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Genes:
AASDH, ABLIM2, AC021860.1, AC068620.1, AC079341.1, AC093677.1, ACOX3, ACSL1, ADAMTS3, ADH1B, ADH1C, ADH4, ADH6, ADRA2C, AFAP1, AFM, AFP, AGA, AGPAT9, ALB, ALPK1, AMBN, AMTN, ANAPC4, ANK2, ANKRD17, ANKRD37, ANTXR2, ANXA10, ARAP2, ARHGAP24, ARHGEF38, ART3, ASB5, ASIC5, ATP10D, ATP8A1, BANK1, BBS12, BMP3, BOD1L1, BTC, C4orf17, C4orf19, C4orf21, C4orf22, C4orf26, C4orf27, C4orf3, C4orf32, C4orf33, C4orf36, C4orf40, C4orf45, C4orf48, C4orf50, CABS1, CBR4, CCDC109B, CCDC110, CCDC96, CCNA2, CDKN2AIP, CDS1, CENPC, CENPE, CENPU, CEP44, CFI, CHRNA9, CLCN3, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNGA1, CNOT6L, COL25A1, COQ2, CORIN, CPEB2, CPZ, CRIPAK, CRMP1, CSN3, CXCL1, CXCL5, CYP4V2, DAPP1, DCAF4L1, DCHS2, DCK, DCLK2, DCTD, DCUN1D4, DDX60L, DGKQ, DOK7, DRD5, DTHD1, EGF, ELF2, ENPEP, ENPP6, EPHA5, EREG, ERVMER34-1, ETFDH, EVC, EVC2, EXOC1, EXOSC9, FABP2, FAM114A1, FAM149A, FAM175A, FAM184B, FAM198B, FAM200B, FAM53A, FAT1, FAT4, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FHDC1, FRAS1, FREM3, FRG1, FRG2, FRYL, FSTL5, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GALNT7, GALNTL6, GAR1, GBA3, GC, GLRA3, GLRB, GNRHR, GPR125, GPR78, GRIA2, GRID2, GRK4, GRSF1, GRXCR1, GSX2, GUCY1A3, GUCY1B3, GUF1, GYPA, GYPB, GYPE, HADH, HELQ, HERC5, HERC6, HGFAC, HMX1, HOPX, HPSE, HSD17B11, HSPA4L, HTT, IBSP, IDUA, IL2, IL21, ING2, INPP4B, INTU, IRF2, KCTD8, KDR, KIAA0922, KIAA1109, KIAA1211, KIAA1239, KIAA1430, KLB, KLHL2, KLHL5, KLKB1, LAP3, LARP1B, LDB2, LETM1, LGI2, LIMCH1, LIN54, LINC00955, LPHN3, LRBA, LRIT3, LRP2BP, LYAR, MAEA, MAML3, MAN2B2, MANBA, MAP9, MARCH1, MED28, MFSD10, MFSD8, MND1, MSANTD1, MTHFD2L, MTTP, MUC7, NAF1, NAP1L5, NCAPG, NDNF, NDST3, NDST4, NEIL3, NEK1, NEUROG2, NFKB1, NFXL1, NIPAL1, NKX1-1, NKX3-2, NMU, NOA1, NOP14, NPNT, NPY2R, NPY5R, NR3C2, NSUN7, NUDT6, NUP54, ODAM, OTOP1, PALLD, PAPSS1, PARM1, PCDH10, PCDH7, PDE5A, PDE6B, PDGFC, PDGFRA, PDLIM5, PF4V1, PHOX2B, PI4K2B, PKD2, PLA2G12A, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPEF2, PPID, PPP2R2C, PRDM5, PRDM8, PRIMPOL, PROL1, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, QDPR, QRFPR, RAPGEF2, RASSF6, RBM47, RBPJ, RFC1, RGS12, RNF175, RNF212, RP11-171N4.2, RP11-503N18.3, RP11-62N21.1, RP11-763F8.1, RP11-766F14.2, RPL9, S100P, SCLT1, SDAD1, SEC24B, SEC24D, SEC31A, SEL1L3, SETD7, SFRP2, SH3BP2, SH3TC1, SHROOM3, SLC25A31, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC4A4, SLC7A11, SLC9B1, SLIT2, SMARCA5, SMARCAD1, SMR3A, SNX25, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPON2, SRP72, STAP1, STIM2, STOX2, STPG2, SYNPO2, TACC3, TBC1D1, TBC1D14, TBC1D19, TBCK, TENM3, TET2, THAP9, THEGL, TIFA, TIGD2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMEM128, TMEM129, TMEM155, TMEM156, TMEM165, TMEM175, TMPRSS11A, TMPRSS11B, TMPRSS11E, TNIP2, TRIM2, TRIML1, TRIML2, TRMT44, TTC29, UBA6, UGT2A1, UGT2A3, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP38, USP53, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WHSC1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF732,

Genes at Omim

ADH1B, ADH1C, ADRA2C, AFP, AGA, ALB, AMBN, ANK2, ANTXR2, BBS12, C4orf26, CENPE, CFI, CNGA1, COL25A1, COQ2, CORIN, CYP4V2, DOK7, DRD5, EGF, ETFDH, EVC, FAT4, FGFR3, FRAS1, GABRA2, GLRB, GNRHR, GRID2, GRXCR1, GUCY1A3, GUF1, GYPA, GYPB, HMX1, HTT, IDUA, IL2, IL21, KDR, KLKB1, LRBA, LRIT3, MANBA, MFSD8, MUC7, NEK1, NFKB1, NKX3-2, NR3C2, PALLD, PDE6B, PDGFRA, PKD2, PLK4, PRDM5, PRDM8, PRSS12, QDPR, RBPJ, RNF212, SEC24D, SH3BP2, SLC2A9, SLC34A2, SLC4A4, SMARCAD1, SOD3, SRP72, TBCK, TENM3, TET2, TLL1, TLR1, TLR2, TLR3, TMEM165, TRIM2, UGT2B17, UVSSA, VEGFC, WDR19, WFS1, ZNF141,
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Alcohol dependence, protection against}, 103780 (3)
{Parkinson disease, susceptibility to}, 168600 (3)
ADRA2C {Congestive heart failure and beta-blocker response, modifier of} (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
AMBN Amelogenesis imperfecta, type IF, 616270 (3)
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Long QT syndrome 4, 600919 (3)
ANTXR2 Hyaline fibromatosis syndrome, 228600 (3)
BBS12 Bardet-Biedl syndrome 12, 615989 (3)
C4orf26 Amelogenesis imperfecta, type IIA4, 614832 (3)
CENPE ?Microcephaly 13, primary, autosomal recessive, 616051 (3)
CFI Complement factor I deficiency, 610984 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
CNGA1 Retinitis pigmentosa 49, 613756 (3)
COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DRD5 Dystonia, primary cervical (3)
{Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Blepharospasm, primary benign}, 606798 (3)
EGF Hypomagnesemia 4, renal, 611718 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
Weyers acrodental dysostosis, 193530 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGFR3 Achondroplasia, 100800 (3)
Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
Hypochondroplasia, 146000 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome, 219000 (3)
GABRA2 {Alcohol dependence, susceptibility to}, 103780 (3)
GLRB Hyperekplexia 2, autosomal recessive, 614619 (3)
GNRHR Hypogonadotropic hypogonadism 7 without anosmia, 146110 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
GRXCR1 Deafness, autosomal recessive 25, 613285 (3)
GUCY1A3 Moyamoya 6 with achalasia, 615750 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
GYPA [Blood group, MN] (3)
{Malaria, resistance to}, 611162 (3)
GYPB [Blood group, Ss] (3)
{Malaria, resistance to}, 611162 (3)
HMX1 Oculoauricular syndrome, 612109 (3)
HTT Huntington disease, 143100 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IL2 Severe combined immunodeficiency due to IL2 deficiency (1)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
KDR Hemangioma, capillary infantile, somatic, 602089 (3)
{Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LRBA Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
MANBA Mannosidosis, beta, 248510 (3)
MFSD8 Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Macular dystrophy with central cone involvement, 616170 (3)
MUC7 {Asthma, protection against}, 600807 (3)
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PKD2 Polycystic kidney disease 2, 613095 (3)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PRDM8 ?Epilepsy, progressive myoclonic, 10, 616640 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
QDPR Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
RBPJ Adams-Oliver syndrome 3, 614814 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SEC24D Cole-Carpenter syndrome 2, 616294 (3)
SH3BP2 Cherubism, 118400 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
SRP72 Bone marrow failure syndrome 1, 614675 (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR1 {Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
TLR2 {Colorectal cancer, susceptibility to}, 114500 (3)
{Leprosy, susceptibility to}, 246300 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Herpes simplex encephalitis, susceptibility to, 2} 613002 (3)
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 (3)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
VEGFC Lymphedema, hereditary, ID, 615907 (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)
WFS1 ?Cataract 41, 116400 (3)
Deafness, autosomal dominant 6/14/38, 600965 (3)
Wolfram syndrome, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)
ZNF141 ?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

ADRA2C, AFP, AGA, ALB, AMBN, ANK2, ANTXR2, BBS12, CENPE, CFI, CNGA1, COL25A1, COQ2, CORIN, CYP4V2, DOK7, EGF, ETFDH, EVC, EVC2, FAT4, FGFR3, FRAS1, GLRB, GNRHR, GRID2, GRXCR1, GUCY1A3, GYPA, GYPB, HADH, HMX1, HTT, IDUA, IL21, KLKB1, LRBA, LRIT3, MANBA, MFSD8, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, ODAM, PDE6B, PDGFRA, PHOX2B, PKD2, PLK4, PRDM5, PRDM8, PRIMPOL, PRSS12, QDPR, RBPJ, SH3BP2, SLC2A9, SLC34A2, SLC4A4, SMARCAD1, SRP72, TENM3, TLL1, TLR3, TMEM165, TRIM2, UVSSA, VEGFC, WDR19, WFS1, ZNF141,
ADRA2C Beta-blocker response, association with
AFP Hereditary persistence of AFP
AFP deficiency, congenital
AGA Aspartylglucosaminuria
ALB Analbuminemia
Dysalbuminemic hyperthyroxinemia
AMBN Amelogenesis imperfecta type IF
ANK2 Cardiac arrhythmia, ankyrin-B-related
Long QT syndrome, 4
ANTXR2 Fibromatosis, juveline hyaline
Hyalinosis, infantile systemic
BBS12 Bardet-Biedl syndrome 12
CENPE Microcephaly 13, primary, autosomal recessive
CFI Complement factor I deficiency
Hemolytic uremic syndrome, atypical
CNGA1 Retinitis pigmentosa 49
COL25A1 Fibrosis of extraocular muscles, congenital 5
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Retinitis pigmentosa, autosomal recessive
Bietti crystalline corneoretinal dystrophy
DOK7 Myasthenic syndrome, congenital 10
EGF Hypomagnesemia 4, renal
ETFDH Glutaric aciduria II
Multiple acyl-CoA dehydrogenase deficiency
EVC Weyers acrofacial dysostosis
Ellis-van Creveld syndrome
EVC2 Weyers acrodental dysostosis
Ellis-van Creveld syndrome
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGFR3 Muenke syndrome
Lacrimoauriculodentodigital syndrome (AD)
Crouzon syndrome with acanthosis nigricans
Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GNRHR Hypogonadotropic hypogonadism 23 with or without anosmia
Hypogonadotropic hypogonadism 7 with or without anosmia
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GRXCR1 Deafness, autosomal recessive 25
GUCY1A3 Moyamoya disease 6 with achalasia
GYPA Blood group, Erik
Blood group, MN locus
GYPB Blood group, Ss
HADH Hyperinsulinemic hypoglycemia, familial, 4
3-hydroxyacyl-CoA dehydrogenase deficiency
HMX1 Oculoauricular syndrome
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KLKB1 Prekallikrein deficiency
LRBA Common variable immunodeficiency 8, with autoimmunity
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MFSD8 Ceroid lipofuscinosis, neuronal, 7
MTTP Abetalipoproteinemia
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
Pseudohypoaldosteronism type I, autosomal dominant
ODAM Amelogenesis imperfecta, hypomaturation type, IIA4
PDE6B Retinitis pigmentosa 40
Night blindness, congenital stationary, autosomal dominant 2
PDGFRA Gastrointestinal stromal tumor
PHOX2B Neuroblastoma, susceptiblity to, 2
Neuroblastoma with Hirschsprung disease
Central hypoventilation syndrome, congenital
PKD2 Polycystic kidney disease 2
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 2
PRDM5 Brittle cornea syndrome 2
PRDM8 Epilepsy, progressive myoclonic, 10
PRIMPOL Myopia 22, autosomal dominant
PRSS12 Mental retardation, autosomal recessive 1
QDPR Hyperphenylalaninemia, BH4-deficient, C
RBPJ Adams-Oliver syndrome 3
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SMARCAD1 Adermatoglyphia
SRP72 Bone marrow failure syndrome 1
TENM3 Microphthalmia, isolated, with coloboma 9
TLL1 Atrial septal defect 6
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TMEM165 Congenital disorder of glycosylation, type IIk
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
UVSSA UV-sensitive syndrome 3
VEGFC Lymphedema, hereditary, ID
WDR19 Senior-Loken syndrome 8
Retinitis pigmentosa
Nephronophthisis 13
Cranioectodermal dysplasia 4
Short-rib thoracic dysplasia 5 with or without polydactyly
WFS1 Wolfram syndrome
ZNF141 Postaxial polydactyly type A, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 5915
Number of Genes: 398

Export to: CSV

AASDH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs6554348
dbSNP
57219592 1158.77 G A . 0/1 81 SYNONYMOUS_CODING LOW SILENT 0.64577 0.64580 0.37152 None None None None None None None
View mm170241ct 4 rs6554354
dbSNP
57237683 4257.77 G A . 0/1 264 SYNONYMOUS_CODING LOW SILENT 0.27796 0.27800 0.38044 None None None None None None None
View mm170241ct 4 rs3796544
dbSNP
57215677 3197.84 G A . 0/1 238 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27796 0.27800 0.38059 0.49 0.00 None None None None None None None

ABLIM2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs2385904
dbSNP
8031471 325.77 A G . 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.73363 0.73360 0.24947 None None None None None None None

AC021860.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs62294474
dbSNP
38628725 48.74 C T . 1/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42632 0.42630 0.00 0.00 None None None None None None None

AC068620.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs2176785
dbSNP
57276739 410.77 G C . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38498 0.38500 0.01 0.42 None None None None None None None

AC079341.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs4833771
dbSNP
122687260 567.77 G A . 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01238 0.01238 0.00 None None None None None None None
View mm170241ct 4 rs13108419
dbSNP
122687238 554.77 A G . 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.29333 0.29330 None None None None None None None
View mm170241ct 4 rs4833772
dbSNP
122687491 373.77 G C . 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60064 0.60060 0.00 None None None None None None None
View mm170241ct 4 rs77005784
dbSNP
122687482 173.77 G A . 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10503 0.10500 0.00 None None None None None None None

AC093677.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs6840665
dbSNP
75023609 1910.77 T C . 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.98622 0.98620 None None None None None None None
View mm170241ct 4 rs2289443
dbSNP
75023709 2062.77 C T . 1/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69429 0.69430 0.00 None None None None None None None

ACOX3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs60183225
dbSNP
8376835 151.77 C G . 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.00060 0.02895 0.02834 None None None None None None None
View mm170241ct 4 rs28627156
dbSNP
8394094 349.77 G A . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.12260 0.12260 0.14240 None None None None None None None

ACSL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs1803898
dbSNP
185701549 916.77 G T . 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.16074 0.16070 0.24704 None None None None None None None
View mm170241ct 4 rs2292898
dbSNP
185686032 1032.77 C T . 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.83147 0.83150 0.25442 None None None None None None None

ADAMTS3

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 rs788908
dbSNP
73414286 1511.77 C T . 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64297 0.64300 0.31570 0.49 0.00 None None None None None None None

ADH1B

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 rs2066702
dbSNP
100229017 2328.77 G A . 0/1 168 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05312 0.05312 0.06420 0.00 1.00 None None None None None None None
View mm170241ct 4 rs1789882
dbSNP
100235053 4875.77 A G . 0/1 346 SYNONYMOUS_CODING LOW SILENT 0.82967 0.82970 0.19151 None None None None None None None
View mm170241ct 4 rs1229984
dbSNP
100239319 4775.77 T C . 1/1 148 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None None

ADH1C

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 rs2241894
dbSNP
100266133 3798.77 T C . 1/1 117 SYNONYMOUS_CODING LOW SILENT 0.47165 0.47160 0.30109 None None None None None None None
View mm170241ct 4 rs283413
dbSNP
100268190 1652.77 A C . 1/1 46 STOP_LOST HIGH MISSENSE 0.99281 0.99280 0.00839 None None None None None None None

ADH4

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 rs1126671
dbSNP
100048414 6322.77 T C . 1/1 181 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84705 0.84700 0.26911 0.69 0.00 None None None None None None None
View mm170241ct 4 rs1126670
dbSNP
100052733 1451.77 C A . 1/1 44 SYNONYMOUS_CODING LOW SILENT 0.84724 0.84720 0.26872 None None None None None None None
View mm170241ct 4 rs2032349
dbSNP
100062819 4100.77 A G . 1/1 118 SYNONYMOUS_CODING LOW SILENT 0.96406 0.96410 0.04121 None None None None None None None
View mm170241ct 4 rs1126673
dbSNP
100045616 1525.77 C T . 1/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None None

ADH6

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 rs4699735
dbSNP
100140306 3043.77 A T . 1/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00031 1.00 0.00 None None None None None None None

ADRA2C

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 rs7434630
dbSNP
3769500 971.77 C T . 0/1 98 SYNONYMOUS_CODING LOW SILENT 0.18970 0.18970 0.16292 None None None None None None None
View mm170241ct 4 rs181208952
dbSNP
3769266 68.78 G C . 0/1 5 SYNONYMOUS_CODING LOW SILENT 0.19669 0.19670 None None None None None None None

AFAP1

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 rs28542374
dbSNP
7783163 1385.77 G A . 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.62540 0.62540 0.40035 None None None None None None None
View mm170241ct 4 rs28669852
dbSNP
7844953 326.77 G A . 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.02855 0.02855 0.05990 None None None None None None None
View mm170241ct 4 rs41264705
dbSNP
7780582 2273.77 C T . 1/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11062 0.11060 0.21667 0.13 0.02 None None None None None None None
View mm170241ct 4 rs61742221
dbSNP
7857230 724.77 C T . 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.17812 0.17810 0.32301 None None None None None None None
View mm170241ct 4 rs11728778
dbSNP
7802292 1390.77 G A . 1/1 46 SYNONYMOUS_CODING LOW SILENT 0.11162 0.11160 0.21936 None None None None None None None

AFM

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 rs151113361
dbSNP
74357800 1199.77 C T . 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.07 0.51 None None None None None None None

AFP

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 rs4235117
dbSNP
74318330 870.77 A G . 1/1 26 SYNONYMOUS_CODING LOW SILENT 0.97704 0.97700 0.02007 None None None None None None None

AGA

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 rs2228119
dbSNP
178359960 3197.84 G C . 1/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92093 0.92090 0.07474 0.45 0.00 None None None None None None None

AGPAT9

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 rs62303973
dbSNP
84519828 1842.77 G A . 0/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02077 0.02077 0.04367 0.00 0.67 None None None None None None None

ALB

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 rs962004
dbSNP
74285239 1182.77 C T . 0/1 76 SYNONYMOUS_CODING LOW SILENT 0.48343 0.48340 0.48170 None None None None None None None

ALPK1

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 rs17044681
dbSNP
113353052 984.77 C T . 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.04932 0.04932 0.10472 None None None None None None None
View mm170241ct 4 rs2074379
dbSNP
113352899 1182.77 G A . 0/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62680 0.62680 0.34623 0.34 0.00 None None None None None None None
View mm170241ct 4 rs61747381
dbSNP
113351822 1162.77 G A . 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.03834 0.03834 0.04060 None None None None None None None
View mm170241ct 4 rs13148353
dbSNP
113352628 737.77 A G . 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65855 0.65850 0.31978 0.27 0.00 None None None None None None None
View mm170241ct 4 rs2074388
dbSNP
113352397 841.77 G A . 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62740 0.62740 0.34615 0.25 0.04 None None None None None None None
View mm170241ct 4 rs231247
dbSNP
113359703 2313.77 A G . 0/1 194 SYNONYMOUS_CODING LOW SILENT 0.66134 0.66130 0.32001 None None None None None None None
View mm170241ct 4 rs11726117
dbSNP
113353285 610.77 T C . 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65855 0.65850 0.31931 0.44 0.00 None None None None None None None

AMBN

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 rs35266919
dbSNP
71468985 1194.77 A G . 0/1 92 SYNONYMOUS_CODING LOW SILENT 0.07608 0.07608 0.17049 None None None None None None None

AMTN

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 rs17676820
dbSNP
71396989 529.77 C T . 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.27376 0.27380 0.35330 None None None None None None None

ANAPC4

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 rs9174
dbSNP
25419283 3003.77 T C . 0/1 241 SYNONYMOUS_CODING LOW SILENT 0.50240 0.50240 0.39782 None None None None None None None
View mm170241ct 4 rs34811474
dbSNP
25408838 1734.77 G A . 0/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07408 0.07408 0.15890 0.10 0.03 None None None None None None None

ANK2

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 rs3112980
dbSNP
114067139 1076.77 G A . 0/1 64 None None None 0.08626 0.08626 0.18 0.07 None None None None None None None

ANKRD17

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 rs2306058
dbSNP
73942678 847.77 C T . 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.17652 0.17650 0.12194 None None None None None None None
View mm170241ct 4 rs6822576
dbSNP
73991006 2242.77 T C . 1/1 72 SYNONYMOUS_CODING LOW SILENT 0.99740 0.99740 0.00369 None None None None None None None

ANKRD37

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 rs4631093
dbSNP
186320880 1565.77 A G . 0/1 141 SYNONYMOUS_CODING LOW SILENT 0.10583 0.10580 0.07035 None None None None None None None
View mm170241ct 4 rs4317244
dbSNP
186320906 1427.77 C G . 0/1 125 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10903 0.10900 0.07299 0.38 0.00 None None None None None None None

ANTXR2

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 rs12647691
dbSNP
80905990 785.77 C G . 0/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80272 0.80270 0.28982 1.00 0.00 None None None None None None None

ANXA10

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 rs6836994
dbSNP
169083694 1521.77 A C . 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53315 0.53310 0.37214 1.00 0.00 None None None None None None None
View mm170241ct 4 rs4405979
dbSNP
169086441 2495.77 A G . 1/1 81 SYNONYMOUS_CODING LOW SILENT 0.53295 0.53290 0.37204 None None None None None None None

ARAP2

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 rs4833069
dbSNP
36081878 7339.77 C T . 1/1 213 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99521 0.99520 0.00746 0.80 0.00 None None None None None None None

ARHGAP24

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 rs11547776
dbSNP
86915923 1420.77 G A . 0/1 113 SYNONYMOUS_CODING LOW SILENT 0.25459 0.25460 0.19476 None None None None None None None
View mm170241ct 4 rs6824722
dbSNP
86844835 547.77 A G . 0/1 51 SYNONYMOUS_CODING LOW SILENT 0.39637 0.39640 0.31655 None None None None None None None
View mm170241ct 4 rs10003909
dbSNP
86915848 1855.77 T C . 0/1 154 SYNONYMOUS_CODING LOW SILENT 0.35443 0.35440 0.29909 None None None None None None None

ARHGEF38

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 rs2276970
dbSNP
106510470 1745.77 A G . 0/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08786 0.08786 0.09526 0.30 0.00 None None None None None None None
View mm170241ct 4 rs6533206
dbSNP
106474096 1375.77 T C . 1/1 44 SYNONYMOUS_CODING LOW SILENT 0.99980 0.99980 None None None None None None None

ART3

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 rs1128864
dbSNP
77033590 1560.77 C T . 0/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48383 0.48380 0.37260 0.05 0.02 None None None None None None None

ASB5

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 rs6827525
dbSNP
177137988 1071.77 C T . 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.51558 0.51560 0.48324 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

ATP10D

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 rs1058793
dbSNP
47584046 3692.77 G A . 0/1 208 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29952 0.29950 0.20760 1.00 0.00 None None None None None None None
View mm170241ct 4 rs11729411
dbSNP
47560163 1667.77 C A . 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.22464 0.22460 0.21329 None None None None None None None
View mm170241ct 4 rs34169638
dbSNP
47560015 490.77 A G . 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08427 0.08427 0.04713 0.12 0.00 None None None None None None None

ATP8A1

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 rs16854624
dbSNP
42629038 1131.77 C T . 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.08267 0.08267 0.10334 None None None None None None None

BANK1

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 rs10516486
dbSNP
102751276 7629.77 C T . 1/1 211 SYNONYMOUS_CODING LOW SILENT 0.54034 0.54030 0.48862 None None None None None None None
View mm170241ct 4 rs10516487
dbSNP
102751076 3996.77 G A . 0/1 287 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21845 0.21850 0.28333 0.17 0.00 None None None None None None None
View mm170241ct 4 rs3733197
dbSNP
102839287 3239.77 G A . 0/1 194 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22684 0.22680 0.29722 0.05 0.07 None None None None None None None
View mm170241ct 4 rs3113676
dbSNP
102965043 2836.77 T C . 1/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99681 0.99680 0.00938 0.40 0.00 None None None None None None None

BBS12

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 rs309370
dbSNP
123664204 2935.77 G A . 0/1 186 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.50639 0.50640 0.41381 0.35 0.00 None None None None None None None
View mm170241ct 4 rs2292493
dbSNP
123664445 2067.77 C T . 0/1 108 SYNONYMOUS_CODING LOW SILENT 0.30052 0.30050 0.10664 None None None None None None None

BMP3

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 rs6831040
dbSNP
81967188 4943.77 C T . 1/1 138 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99880 0.99880 0.00108 0.04 0.15 None None None None None None None

BOD1L1

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 rs142422253
dbSNP
13604027 811.77 G A . 0/1 65 SYNONYMOUS_CODING LOW SILENT 0.00579 0.00579 0.00969 None None None None None None T
View mm170241ct 4 rs1971278
dbSNP
13606576 6500.77 A T . 1/1 178 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72424 0.72420 0.33646 0.00 None None None None None None None
View mm170241ct 4 rs61995957
dbSNP
13605040 2407.77 C T . 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00799 0.00799 0.01507 0.04 None None None None None None None
View mm170241ct 4 rs61995954
dbSNP
13603200 938.77 T G . 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00140 0.00140 0.00546 1.00 None None None None None None None

BTC

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 rs11938093
dbSNP
75675841 5961.77 A T . 0/1 375 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19988 0.19990 0.26703 0.00 0.99 None None None None None None None

C4orf17

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 rs13143848
dbSNP
100443720 1319.77 G A . 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31430 0.31430 0.31739 0.37 0.08 None None None None None None None
View mm170241ct 4 rs17029087
dbSNP
100443800 553.77 G A . 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20607 0.20610 0.24919 0.07 0.19 None None None None None None None
View mm170241ct 4 rs61732380
dbSNP
100443784 694.77 C G . 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.21106 0.21110 0.02122 None None None None None None None
View mm170241ct 4 rs13119384
dbSNP
100443782 1880.77 T C . 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57528 0.57530 0.40827 1.00 0.00 None None None None None None None

C4orf19

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 rs2973275
dbSNP
37592128 793.77 G A . 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12820 0.12820 0.19314 0.22 0.36 None None None None None None None

C4orf21

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs17669218
dbSNP
113524723 2722.77 G A . 0/1 205 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03674 0.03674 0.07243 0.01 0.01 None None None None None None None
View mm170241ct 4 rs7696816
dbSNP
113539969 3131.77 T C . 0/1 215 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41773 0.41770 0.39059 0.84 0.00 None None None None None None None
View mm170241ct 4 rs17605622
dbSNP
113482146 1799.77 G A . 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03734 0.03734 0.07256 0.69 0.03 None None None None None None None

C4orf22

Omim - GeneCards - NCBI
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 4 rs1052325
dbSNP
81884722 6987.77 G A . 1/1 209 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81050 0.81050 0.22293 0.71 0.00 None None None None None None None
View mm170241ct 4 rs2867782
dbSNP
81529518 1742.77 T C . 0/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.95687 0.95690 0.83 0.00 None None None None None None None

C4orf26

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 rs2306175
dbSNP
76489345 1366.77 C T . 0/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24361 0.24360 0.25896 0.09 0.77 None None None None None None None

C4orf27

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 rs1047642
dbSNP
170663235 1369.77 C T . 1/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78954 0.78950 0.21852 1.00 0.00 None None None None None None None
View mm170241ct 4 rs11540095
dbSNP
170678993 581.77 T C . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.77736 0.77740 0.22341 None None None None None None None

C4orf3

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 rs772621094
dbSNP
120221566 2242.77 T G . 0/1 162 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.40 None None None None None None None

C4orf32

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 rs10002700
dbSNP
113066831 93.28 G A . 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99920 0.99920 0.00283 1.00 0.00 None None None None None None None

C4orf33

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 rs337277
dbSNP
130030652 6120.77 A G . 1/1 175 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.69509 0.69510 0.30263 1.00 0.00 None None None None None None None

C4orf36

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 4 rs1550931
dbSNP
87809387 6283.77 G T . 1/1 180 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88339 0.88340 0.09365 1.00 0.00 None None None None None None None