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Genes:
ABCA4, ABCA7, ABCB4, AC096644.1, ACSF2, ACSM1, ADA, ADCK5, ADCY8, AIM1L, ANAPC1, ANKRD24, ANKRD36, ANKRD36C, ANO7, AQPEP, ARHGAP26, ARHGEF37, ARID4B, ARMC3, ASIC5, ATF1, ATP11A, ATP6V0A2, ATP8B1, ATP8B3, B3GALTL, BIN3, BMP8A, BTNL9, C10orf53, C17orf49, CABP5, CAMSAP1, CAND2, CAPN2, CARHSP1, CAST, CBWD1, CCDC7, CCDC88C, CDH17, CELA3B, CEP89, CLEC2D, COG3, COL14A1, COL16A1, COL26A1, COL6A5, COLGALT2, COPE, CREBRF, CTU2, CYP11B2, DBH, DGKA, DMXL2, DNAAF3, DNAJC16, DNMT3B, DSP, DYRK4, DYSF, EHMT2, EI24, EIF4B, ELMSAN1, EP400, FAM126A, FAM182B, FAM198A, FAM3B, FANCD2, FCRLB, FKBP2, FLNB, FLOT1, FMNL2, FOLH1, FOXP3, FRG1, FRG1B, FSTL1, GAB4, GAD2, GAREML, GCOM1, GDPD2, GEMIN5, GGA2, GGT1, GIPC1, GLTPD2, GRAMD1A, GRIK4, GRM6, GTPBP10, HEATR4, HECW1, HEG1, HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DRB1, HLA-F, HPS5, HTRA4, IRF2, IRGQ, ITGA1, ITGA11, ITGA4, ITGA5, ITPR3, KIAA1549L, KIAA1731, KLK3, KRT6A, KRT72, KRT75, KRT84, LASP1, LENG8, LGI4, LHFPL3, LIG1, LMNA, LPHN3, LRP1, LRP1B, LRRC16A, LSG1, MALRD1, MAST1, MBD4, MBTPS2, MEF2A, MGAM, MLF1, MLXIPL, MMAB, MMEL1, MRO, MROH2A, MRPL22, MRPL30, MS4A7, MTF1, MUC12, MUC16, MYH13, MYH7, MYO1B, MYOM2, NAV2, NCAPD2, NCAPG, NCKAP1, NDNF, NEK10, NEURL4, NFASC, NID2, NLRP13, NME3, NMS, NPC1, NUP85, OBSL1, OC90, ODF2, PARP4, PARVB, PCSK5, PGS1, PI4KA, PIEZO1, PIH1D1, PIK3R2, PITRM1, PIWIL4, PKD1L1, PKN2, PLAC8L1, PLCB1, PLD2, PLD5, PLXNA2, PLXNB2, POLR2A, PRDM2, PRIM2, PRSS50, PSG8, PTPRA, PXDN, QSOX2, RAB44, RAP1GAP2, RBM19, RNF212, RP11-80A15.1, RPS14, RYR3, SDHA, SEC14L6, SERPINB11, SGCG, SH3BP1, SH3YL1, SIRPA, SIRPB1, SLC12A2, SLC12A7, SLC7A11, SLC9A9, SLCO4C1, SMARCAD1, SMARCAL1, SNAPC4, SORBS1, SORCS2, SPEF2, SRGAP2, SUFU, SUPT16H, SVOPL, SYT9, TBC1D32, TBC1D9B, TEAD1, TIAM1, TIMM44, TLE4, TLK1, TMED4, TMEM184B, TMTC1, TMX1, TNNI2, TRAV29DV5, TRPM5, TTC3, TTC40, TTL, UBA6, USO1, VAV1, VAV3, VCAN, VEGFB, VPS8, VWF, WDR19, WDR64, ZC3H11A, ZFAND5, ZIC4, ZNF419, ZNF609, ZNF695, ZYX,

Genes at Omim

ABCA4, ABCA7, ABCB4, ADA, ARHGAP26, ATP6V0A2, ATP8B1, CAST, CCDC88C, CYP11B2, DBH, DMXL2, DNAAF3, DNMT3B, DSP, DYSF, FAM126A, FANCD2, FLNB, FOXP3, GGT1, GRM6, HLA-A, HLA-B, HLA-C, HLA-DRB1, HPS5, ITPR3, KRT6A, KRT75, LIG1, LMNA, MBTPS2, MEF2A, MLF1, MMAB, MYH7, NPC1, NPC1, OBSL1, PI4KA, PIEZO1, PIK3R2, PLCB1, PXDN, RNF212, RPS14, SDHA, SGCG, SLC9A9, SMARCAD1, SMARCAL1, SUFU, TEAD1, TNNI2, VCAN, VWF, WDR19,
ABCA4 Cone-rod dystrophy 3, 604116 (3)
Fundus flavimaculatus, 248200 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ABCB4 Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Gallbladder disease 1, 600803 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, 616295 (3)
CCDC88C ?Spinocerebellar ataxia 40, 616053 (3)
Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
{Low renin hypertension, susceptibility to} (3)
DBH Dopamine beta-hydroxylase deficiency, 223360 (3)
[Dopamine-beta-hydroxylase activity levels, plasma] (3)
DMXL2 ?Polyendocrine-polyneuropathy syndrome, 616113 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DYSF Miyoshi muscular dystrophy 1, 254130 (3)
Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Myopathy, distal, with anterior tibial onset, 606768 (3)
FAM126A Leukodystrophy, hypomyelinating, 5, 610532 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
{Diabetes mellitus, type I, susceptibility to}, 222100 (3)
GGT1 Glutathioninuria (1)
GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
{Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Pemphigoid, susceptibility to} (2)
{Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
ITPR3 {Diabetes, type 1, susceptibility to}, 222100 (2)
KRT6A Pachyonychia congenita 3, 615726 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LIG1 DNA ligase I deficiency (3)
LMNA Cardiomyopathy, dilated, 1A, 115200 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Hutchinson-Gilford progeria, 176670 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Malouf syndrome, 212112 (3)
Mandibuloacral dysplasia, 248370 (3)
Muscular dystrophy, congenital, 613205 (3)
Muscular dystrophy, limb-girdle, type 1B, 159001 (3)
Restrictive dermopathy, lethal, 275210 (3)
MBTPS2 ?Olmsted syndrome, X-linked, 300918 (3)
IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (3)
NPC1 {Nasopharyngeal carcinoma 1} (2)
OBSL1 3-M syndrome 2, 612921 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphedema, hereditary, III, 616843 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PXDN Corneal opacification and other ocular anomalies, 269400 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SGCG Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
SLC9A9 ?{Autism susceptibility 16}, 613410 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
SMARCAL1 Schimke immunoosseous dysplasia, 242900 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
Medulloblastoma, desmoplastic, 155255 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
VCAN Wagner syndrome 1, 143200 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WDR19 ?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Nephronophthisis 13, 614377 (3)
Senior-Loken syndrome 8, 616307 (3)

Genes at Clinical Genomics Database

ABCA4, ABCB4, ADA, ATP6V0A2, ATP8B1, CAST, CCDC88C, CYP11B2, DBH, DMXL2, DNMT3B, DSP, DYSF, FAM126A, FANCD2, FLNB, FOXP3, GRIK4, GRM6, HLA-A, HLA-B, HPS5, KRT6A, KRT75, LMNA, LRP1, MBTPS2, MMAB, MYH7, NPC1, OBSL1, PI4KA, PIEZO1, PIK3R2, PLCB1, PXDN, SDHA, SGCG, SLC9A9, SMARCAD1, SMARCAL1, SUFU, TEAD1, TNNI2, VCAN, VWF, WDR19,
ABCA4 Fundus flavimaculatus
Retinal dystrophy, early-onset severe
Stargardt disease 1
Retinitis pigmentosa 19
Cone-rod dystrophy 3
ABCB4 Gallbladder disease 1
Cholestasis, familial intrahepatic, of pregnancy
Cholestasis, oral contraceptives induced
Low phospholipid-associated cholelithiasis 1
Cholestasis, progressive familial intrahepatic 3
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ATP6V0A2 Wrinkly skin syndrome
Cutis laxa, autosomal recessive, type IIA
ATP8B1 Intrahepatic cholestasis of pregnancy
Cholestasis, progressive familial intrahepatic 1
Familial intrahepatic cholestasis, recurrent
CAST Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (PLACK)
CCDC88C Spinocerebellar ataxia 40
CYP11B2 Glucocorticoid-remediable aldosteronism
Corticosterone methyloxidase type II deficiency
Corticosterone methyloxidase type I deficiency
DBH Dopamine beta-hydroxylase deficiency
DMXL2 Polyendocrine-polyneuropathy syndrome
DNMT3B Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DYSF Myopathy, distal, with anterior tibial onset
Muscular dystrophy, limb-girdle, type 2B
Miyoshi muscular dystrophy 1
FAM126A Leukodystrophy, hypomyelinating, 5
FANCD2 Fanconi anemia, complementation group D2
FLNB Atelosteogenesis, type III
Atelosteogenesis, type I
Boomerang dysplasia
Spondylocarpotarsal synostosis syndrome
Larsen syndrome
FOXP3 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX)
GRIK4 Response to antidepressant treatment with citalopram
GRM6 Night blindness, congenital stationary, type 1B
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HPS5 Hermansky-Pudlak syndrome 5
KRT6A Pachyonychia congenita 3
KRT75 Pseudofolliculitis barbae
LMNA Lipodystrophy, familial partial, 2 (Dunnigan type)
Malouf syndrome
Limb-girdle muscular dystrophy type 1B
Muscular dystrophy, congenital, LMNA-related
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Emery-Dreiffus muscular dystrophy, autosomal dominant
Heart-hand syndrome, Slovenian type
Cardiomyopathy, dilated, 1A
LRP1 Schizophrenia
MBTPS2 Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
IFAP syndrome with or without BRESHECK syndrome
Keratosis follicularis spinulosa decalvans, X-linked
MMAB Methylmalonic acidemia, cblB type
MYH7 Myopathy, myosin storage, autosomal recessive
Myopathy, distal
Cardiomyopathy, familial hypertrophic
Cardiomyopathy, dilated, 1S
NPC1 Niemann-Pick disease, type D
Niemann-Pick disease, type C1
OBSL1 Three M syndrome 2
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PLCB1 Epileptic encephalopathy, early infantile, 12
PXDN Corneal opacification with other ocular anomalies
SDHA Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
Cardiomyopathy, dilated, 1GG
Gastrointestinal stromal tumors
Paragangliomas 5
SGCG Muscular dystrophy, limb-girdle, type 2C
SLC9A9 Autism susceptibility 16
SMARCAD1 Adermatoglyphia
SMARCAL1 Schimke immunoosseous dysplasia
SUFU Basal cell nevus syndrome
Medulloblastoma
TEAD1 Sveinsson choreoretinal atrophy
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
VCAN Wagner syndrome 1
VWF von Willebrand disease, type 3
von Willebrand disease, type 2A
von Willebrand disease, type 1
WDR19 Senior-Loken syndrome 8
Retinitis pigmentosa
Nephronophthisis 13
Cranioectodermal dysplasia 4
Short-rib thoracic dysplasia 5 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 273
Number of Genes: 264

Export to: CSV

ABCA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1801555
dbSNP
94466659 266.77 A G . 0/1 12 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.30112 0.30110 0.29886 None None None None None None None

ABCA7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs881768
dbSNP
1056065 202.77 A G . 0/1 19 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.44209 0.44210 0.45937 None None None None None None None

ABCB4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs2109505
dbSNP
87079406 1106.77 T A . 0/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.26138 0.26140 0.22490 None None None None None None None

AC096644.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1361256
dbSNP
220607685 4395.77 G A . 1/1 130 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.81010 0.81010 None None None None None None None

ACSF2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs2305998
dbSNP
48549791 600.77 C G . 0/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.18570 0.18570 0.24427 None None None None None None None

ACSM1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 16 rs3743690
dbSNP
20635418 2085.77 C T . 1/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.18371 0.18370 0.09722 None None None None None None None

ADA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs394105
dbSNP
43264927 844.77 C T . 1/1 28 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.98223 0.98220 0.01538 None None None None None None None

ADCK5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs7843675
dbSNP
145617910 355.77 A G . 0/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.11821 0.11820 0.14409 None None None None None None None

ADCY8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs12547243
dbSNP
131921956 1916.77 A G . 0/1 162 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.54473 0.54470 0.42642 None None None None None None None

AIM1L

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs11247919
dbSNP
26664968 712.77 C T . 0/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.28614 0.28610 0.42081 None None None None None None None

ANAPC1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs4848197,rs77448997
dbSNP
112605302 1251.77 C T . 0/1 140 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.56250 0.56250 None None None None None None None

ANKRD24

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs61742016
dbSNP
4207964 822.77 C T . 0/1 63 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.04253 0.04253 0.04275 None None None None None None None

ANKRD36

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs5008284
dbSNP
97833342 3450.77 G A . 0/1 488 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 2 rs79756591
dbSNP
97820478 1460.77 G A . 0/1 295 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKRD36C

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs62153754
dbSNP
96601364 7751.77 C T . 0/1 659 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.00 0.00 None None None None None None None

ANO7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2074840
dbSNP
242141719 359.77 C T . 0/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.41474 0.41470 0.36491 None None None None None None None

AQPEP

Omim - GeneCards - NCBI
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs10078748
dbSNP
115341611 6783.77 G T . 1/1 209 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.77676 0.77680 0.18315 None None None None None None None

ARHGAP26

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs258819
dbSNP
142593652 962.77 C T . 1/1 28 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.99641 0.99640 0.00377 None None None None None None None

ARHGEF37

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs57292511
dbSNP
148996328 762.77 G A . 0/1 59 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.05751 0.05751 0.00410 None None None None None None None

ARID4B

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs12731746
dbSNP
235392546 2945.77 T C . 0/1 188 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.44868 0.44870 0.46463 None None None None None None None

ARMC3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs11817610
dbSNP
23297301 1807.77 C T . 0/1 158 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.47916 None None None None None None None

ASIC5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs6848883
dbSNP
156787340 5623.77 G A . 1/1 160 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.84844 0.84840 0.16333 None None None None None None None

ATF1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs1129406
dbSNP
51203371 1001.77 C T . 0/1 80 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.39337 0.39340 0.44687 None None None None None None None

ATP11A

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs1290177
dbSNP
113536132 400.77 T C . 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.56490 0.56490 0.46179 None None None None None None None

ATP6V0A2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs7135542
dbSNP
124229429 1731.77 T C . 1/1 54 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.79952 0.79950 0.30463 None None None None None None None

ATP8B1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 18 rs319438
dbSNP
55364852 1182.77 A G . 1/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.99461 0.99460 0.00692 None None None None None None None

ATP8B3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs3764606
dbSNP
1784944 208.77 A G . 0/1 13 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.42951 0.42950 0.47849 None None None None None None None

B3GALTL

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs4943266
dbSNP
31821992 4656.77 T C . 1/1 124 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.97544 0.97540 0.03601 None None None None None None None

BIN3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs11550509
dbSNP
22526559 581.77 G A . 0/1 45 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.09884 0.09884 0.18878 None None None None None None None

BMP8A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs6526
dbSNP
39977575 140.18 C T . 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

BTNL9

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs3806869
dbSNP
180485353 1865.77 G A . 0/1 127 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.07029 0.07029 0.06666 None None None None None None None

C10orf53

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs1133837
dbSNP
50901938 662.77 C T . 0/1 48 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.35304 0.35300 0.44049 None None None None None None None

C17orf49

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs14309
dbSNP
6919093 939.77 T C . 1/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.75739 0.75740 0.22774 None None None None None None None

CABP5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs8105198
dbSNP
48543862 637.77 G A . 1/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.78674 0.78670 0.22897 None None None None None None None

CAMSAP1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs35981196
dbSNP
138742077 1501.77 C G . 0/1 116 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.12161 0.12160 0.18507 None None None None None None None

CAND2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs4684883
dbSNP
12861586 1158.77 T C . 0/1 80 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.14836 0.14840 0.13982 None None None None None None None

CAPN2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs17596
dbSNP
223905532 1454.77 G A . 1/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.59545 0.59540 0.33746 None None None None None None None

CARHSP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 16 rs2231706
dbSNP
8953030 248.77 C T . 0/1 15 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.00619 0.00619 0.01301 None None None None None None None

CAST

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs7724759
dbSNP
96076487 1779.77 G A . 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.17492 0.17490 0.24704 None None None None None None None

CBWD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 . 154795 4941.77 T C . 1/1 196 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.78694 0.23615 None None None None None None None

CCDC7

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 10 rs7897978
dbSNP
32745262 2175.77 T C . 0/1 160 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.16094 0.16090 0.14163 None None None None None None None

CCDC88C

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs1970912
dbSNP
91773568 273.77 T C . 0/1 18 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.48043 0.48040 0.42060 None None None None None None None

CDH17

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs35792427
dbSNP
95161102 2273.77 G A . 0/1 148 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.12680 0.12680 0.09995 None None None None None None None

CELA3B

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs1803531
dbSNP
22310824 416.77 T C . 1/1 13 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.89317 0.89320 0.05368 None None None None None None None

CEP89

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs10411735
dbSNP
33444707 792.77 C T . 0/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.39836 0.39840 0.35007 None None None None None None None

CLEC2D

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs3764021
dbSNP
9833628 2874.77 C T . 0/1 168 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.46466 0.46470 0.49831 None None None None None None None

COG3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 13 rs3014960
dbSNP
46077381 2043.77 G A . 1/1 57 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.90336 0.90340 0.09573 None None None None None None None

COL14A1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs61733751
dbSNP
121354621 562.77 T C . 0/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.01737 0.01737 0.01599 None None None None None None None

COL16A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2228550
dbSNP
32164206 566.77 T G . 1/1 17 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.62580 0.62580 0.30447 None None None None None None None

COL26A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs17135626
dbSNP
101194424 109.77 C T . 0/1 6 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.29054 0.29050 0.35818 None None None None None None None

COL6A5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs10212372
dbSNP
130104206 449.77 A G . 0/1 42 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.40176 0.40180 None None None None None None None

COLGALT2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2296713
dbSNP
183909717 719.77 G A . 0/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.17232 0.17230 0.15762 None None None None None None None

COPE

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs3177137
dbSNP
19023853 682.77 T C . 0/1 50 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.35004 0.35000 0.44303 None None None None None None None

CREBRF

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs1129146
dbSNP
172550204 3887.77 C T . 0/1 265 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.15336 0.15340 0.14386 None None None None None None None

CTU2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 16 rs2290896
dbSNP
88779032 44.77 G C . 0/1 6 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.09465 0.09465 0.10802 None None None None None None None

CYP11B2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 8 rs149682756
dbSNP
143996122 201.77 G A . 0/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.00319 0.00320 0.00324 None None None None None None None

DBH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs1108580
dbSNP
136505114 546.77 A G . 0/1 39 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.42991 0.42990 0.42680 None None None None None None None

DGKA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs11834873
dbSNP
56345408 935.77 T G . 0/1 63 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.10763 0.10760 0.10749 None None None None None None None
View mm170241ct 12 rs1136082
dbSNP
56335107 1678.77 A G . 1/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.84764 0.84760 0.14663 None None None None None None None

DMXL2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 15 rs76659258
dbSNP
51748564 1319.77 A G . 0/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.01398 0.01398 0.02662 None None None None None None None

DNAAF3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs7260320
dbSNP
55672784 191.84 A G . 1/1 6 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.22704 0.22700 0.23335 None None None None None None None

DNAJC16

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs2236215
dbSNP
15892415 1170.77 A C . 0/1 96 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.28814 0.28810 0.35876 None None None None None None None

DNMT3B

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs2424922
dbSNP
31386449 340.77 T C . 0/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.75579 0.75580 0.42227 None None None None None None None

DSP

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs1016835
dbSNP
7576527 2761.77 G A . 0/1 168 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.73542 0.73540 0.25188 None None None None None None None

DYRK4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs3741925
dbSNP
4705317 471.77 C T . 0/1 23 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.23622 0.23620 0.22743 None None None None None None None

DYSF

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2303606
dbSNP
71838597 279.77 C A . 0/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.44948 0.44950 0.47155 None None None None None None None

EHMT2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs535586
dbSNP
31860337 2734.77 T C . 1/1 82 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.83327 0.83330 0.25190 None None None None None None None

EI24

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs4627097
dbSNP
125452313 1027.77 A G . 0/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.34046 0.34050 0.35699 None None None None None None None

EIF4B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs8916
dbSNP
53433486 2770.77 C T . 1/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.75379 0.75380 0.19484 None None None None None None None

ELMSAN1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 14 rs2075025
dbSNP
74196686 330.77 T C . 0/1 39 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.60403 0.60400 0.44585 None None None None None None None

EP400

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 12 rs61944617
dbSNP
132528724 333.77 C T . 0/1 23 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.00559 0.00559 0.00369 None None None None None None None

FAM126A

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs3735231
dbSNP
23015831 1596.77 T C . 0/1 126 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.37480 0.37480 0.34451 None None None None None None None

FAM182B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 20 rs75063166
dbSNP
25829342 1829.77 T C . 0/1 177 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

FAM198A

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs658958
dbSNP
43073761 1176.77 G A . 1/1 37 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.43830 0.43830 0.38371 None None None None None None None

FAM3B

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View mm170241ct 21 rs417708
dbSNP
42717662 3330.77 T C . 1/1 113 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.91154 0.91150 0.11256 None None None None None None None

FANCD2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 3 rs72492997
dbSNP
10088266 1063.77 G T . 0/1 172 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

FCRLB

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 1 rs11585450
dbSNP
161696782 68.77 G C . 0/1 7 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.31450 0.31450 0.36719 None None None None None None None

FKBP2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs654573
dbSNP
64011441 869.77 T C . 1/1 27 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.97684 0.97680 0.02039 None None None None None None None

FLNB

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View mm170241ct 3 rs2362904
dbSNP
58112488 386.77 C T . 0/1 30 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.64856 0.64860 0.40243 None None None None None None None

FLOT1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 6 rs1136719
dbSNP
30695920 999.77 C T . 0/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.09465 0.09465 0.07773 None None None None None None None

FMNL2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs4664114
dbSNP
153378459 1304.77 T C . 0/1 134 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.69070 0.69070 0.34572 None None None None None None None

FOLH1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 11 rs79155991
dbSNP
49208319 347.77 G A . 0/1 182 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.00885 None None None None None None None

FOXP3

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View mm170241ct X rs2232367
dbSNP
49113312 1137.77 G A . 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.01483 0.01483 0.02973 None None None None None None None

FRG1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs756764605
dbSNP
190883085 271.77 C T . 0/1 483 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

FRG1B

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View mm170241ct 20 rs747524520
dbSNP
29632719 10280.77 C T . 0/1 3334 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 20 rs80066412
dbSNP
29625984 7089.77 T C . 0/1 1760 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

FSTL1

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View mm170241ct 3 rs139355917
dbSNP
120121656 985.77 G A . 0/1 56 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.00240 0.00240 0.00661 None None None None None None None

GAB4

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View mm170241ct 22 rs4819925
dbSNP
17446991 318.77 C T . 0/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.82528 0.82530 0.18408 None None None None None None None

GAD2

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View mm170241ct 10 rs1556234
dbSNP
26559571 679.77 G C . 0/1 52 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.04513 0.04513 0.07720 None None None None None None None

GAREML

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View mm170241ct 2 rs4665830
dbSNP
26399214 2163.77 G A . 1/1 71 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.81170 0.81170 0.26456 None None None None None None None

GCOM1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 15 rs2958059
dbSNP
57918090 1818.77 A G . 1/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None

GDPD2

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View mm170241ct X rs2296542
dbSNP
69652762 1637.77 A G . 1/1 44 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.85192 0.85190 0.17012 None None None None None None None

GEMIN5

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View mm170241ct 5 rs816736
dbSNP
154271948 536.77 G A . 0/1 41 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.95148 0.95150 0.04767 None None None None None None None

GGA2

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View mm170241ct 16 rs1071685
dbSNP
23521643 655.77 G C . 1/1 19 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.69090 0.69090 None None None None None None None

GGT1

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View mm170241ct 22 rs2330843
dbSNP
25010872 20.8 A T LowQual 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None

GIPC1

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View mm170241ct 19 rs1127307
dbSNP
14589378 592.77 C T . 0/1 39 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.24820 0.24820 0.22851 None None None None None None None

GLTPD2

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View mm170241ct 17 rs12951761
dbSNP
4693054 821.77 G A . 0/1 62 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.51258 0.51260 0.44769 None None None None None None None

GRAMD1A

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View mm170241ct 19 rs2290647
dbSNP
35506729 205.77 G A . 0/1 14 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.25539 0.25540 0.30418 None None None None None None None

GRIK4

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View mm170241ct 11 rs2156634
dbSNP
120776001 993.77 G A . 1/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.87800 0.87800 0.11927 None None None None None None None

GRM6

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 5 rs2067011
dbSNP
178415937 86.77 A G . 0/1 9 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.50699 0.50700 0.49446 None None None None None None None