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Genes:
ABCA10, ABCC11, AC024592.12, ACAT2, ADCY1, ADH4, AKAP13, ALDH7A1, ANKDD1A, ANKRD30A, ANKRD36, ANKRD36C, APIP, APOBEC3H, ARL2, ARMC4, ASAH1, AXDND1, BCAS1, BRD7, BRWD3, BTNL2, C10ORF68, C11orf52, C12orf55, C14orf178, C14orf37, C16orf71, C1orf204, C20orf96, C2orf76, C2orf80, C5AR1, C5orf45, C6orf100, C7orf25, CALCOCO2, CAMKK1, CCDC175, CCHCR1, CD109, CDC27, CDH23, CDK11A, CDRT15, CELA1, CENPE, CENPU, CEP63, CHAF1A, CHAT, CHN2, CILP, COL11A2, COL5A3, CPA6, CR1, CRTAM, CTC1, CYP20A1, CYP2A7, CYP2D7P, DBNDD2, DDX27, DENND2A, DHODH, DHRS4L2, DKKL1, DLL3, DMD, DNAH10, DNAH11, DNAH14, DNPEP, DTX2, EFCAB4A, EPHA1, EXD3, FAM129C, FAM149A, FAM153A, FER1L6, FMN1, FOCAD, FOLH1, FRG1, FRG1B, GALNTL5, GALP, GANC, GYPA, GYPB, GYPE, HAP1, HEG1, HERC6, HERPUD1, HFM1, HHLA1, HIF3A, HLA-A, HLA-B, HLA-C, HLA-DRB1, HMGXB3, ICAM3, IFI35, IGHA2, IGHD2-2, IGHV3-30, IGHV4-28, INO80D, IRAK3, IRF7, ITGA2, ITGA8, JUP, KCNK15, KIAA0319, KIAA0922, KIAA1009, KIAA1731, KIR2DS4, KMT2E, KRT15, LAMC3, LEPROTL1, LGALS8, LILRA1, LILRB3, LILRB4, LINC01118, LIPF, LRP1, LRRK2, LY75-CD302, MAP2K3, MDC1, MINK1, MROH9, MSH3, MUC16, MUC19, MUC3A, MYBPC2, MYO15B, MYO3A, MYOM1, NBPF3, NCAPD2, NCKAP1L, NLE1, NME8, NOM1, NOP58, NRCAM, ORM1, OTOGL, P4HA3, PDE4DIP, PGLYRP3, PKD1L2, PKHD1, PLA2G4D, POMGNT1, PPCDC, PRAME, PRSS46, PTF1A, RBAK-RBAKDN, RHPN2, RRN3, RYK, S100A7L2, SAA1, SAGE1, SEC14L6, SETDB2, SH2D1B, SLC12A1, SLC15A5, SLC5A4, SLFN13, SLU7, STAB1, TBC1D2, TCN2, TCOF1, TEAD4, TGM4, TLN1, TMEFF2, TMEM175, TNK1, TPCN2, TRBV23-1, TRIM69, TTC16, TTC40, TTN, USP48, USP6, UVSSA, VARS2, VSTM1, VWA3B, WDR46, WDR66, WDR78, YIPF1, ZAN, ZBP1, ZDHHC11, ZDHHC13, ZNF177, ZNF695, ZSCAN5C,

Genes at Omim

ABCC11, ACAT2, ADCY1, ALDH7A1, ARMC4, ASAH1, BRWD3, BTNL2, CDH23, CENPE, CEP63, CHAT, CILP, COL11A2, CPA6, CR1, CTC1, DHODH, DLL3, DMD, DNAH11, GYPA, GYPB, HFM1, HLA-A, HLA-B, HLA-C, HLA-DRB1, IRAK3, IRF7, ITGA2, ITGA8, JUP, KIAA0319, LAMC3, LRRK2, MSH3, MYO3A, NME8, OTOGL, POMGNT1, PTF1A, SLC12A1, TCN2, TCOF1, TPCN2, TTN, UVSSA, VARS2, VWA3B,
ABCC11 [Axillary odor, variation in], 117800 (3)
[Colostrum secretion, variation in], 117800 (3)
[Earwax, wet/dry], 117800 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
ADCY1 ?Deafness, autosomal recessive 44, 610154 (3)
ALDH7A1 Epilepsy, pyridoxine-dependent, 266100 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
ASAH1 Farber lipogranulomatosis, 228000 (3)
Spinal muscular atrophy with progressive myoclonic epilepsy, 159950 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
BTNL2 {Sarcoidosis, susceptibility to, 2}, 612387 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CENPE ?Microcephaly 13, primary, autosomal recessive, 616051 (3)
CEP63 ?Seckel syndrome 6, 614728 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (3)
CPA6 Epilepsy, familial temporal lobe, 5, 614417 (3)
Febrile seizures, familial, 11, 614418 (3)
CR1 CR1 deficiency (1)
[Blood group, Knops system], 607486 (3)
{?SLE susceptibility} (1)
{Malaria, severe, resistance to}, 611162 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
DHODH Miller syndrome, 263750 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
GYPA [Blood group, MN] (3)
{Malaria, resistance to}, 611162 (3)
GYPB [Blood group, Ss] (3)
{Malaria, resistance to}, 611162 (3)
HFM1 Premature ovarian failure 9, 615724 (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)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
ITGA2 ?Glycoprotein Ia deficiency, 614200 (1)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KIAA0319 {Dyslexia, susceptibility to, 2}, 600202 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MSH3 Endometrial carcinoma, somatic, 608089 (3)
Familial adenomatous polyposis 4, 617100 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (3)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Retinitis pigmentosa 76, 617123 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TCOF1 Treacher Collins syndrome 1, 154500 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VWA3B ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)

Genes at Clinical Genomics Database

ABCC11, ADCY1, ALDH7A1, ARMC4, ASAH1, BRWD3, CDH23, CENPE, CEP63, CHAT, COL11A2, CPA6, CR1, CTC1, DHODH, DLL3, DMD, DNAH11, GYPA, GYPB, HFM1, HLA-A, HLA-B, IRF7, ITGA8, JUP, LAMC3, LRP1, LRRK2, MSH3, MYO3A, NME8, OTOGL, PKHD1, POMGNT1, PTF1A, SLC12A1, TCN2, TCOF1, TPCN2, TTN, UVSSA, VARS2, VWA3B,
ABCC11 Apocrine gland secretion, variation in
ADCY1 Deafness, autosomal dominant 44
ALDH7A1 Epilepsy, pyridoxine-dependent
ARMC4 Ciliary dyskinesia, primary, 23
ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy
Farber lipogranulomatosis
BRWD3 Mental retardation, X-linked 93
CDH23 Usher syndrome, type 1D /F digenic
Usher syndrome, type 1D
Deafness, autosomal recessive 12
CENPE Microcephaly 13, primary, autosomal recessive
CEP63 Seckel syndrome 6
CHAT Myasthenic syndrome, congenital 6, presynaptic
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
CPA6 Epilepsy, familial temporal lobe, 5
Febrile seizures, familial, 11
CR1 Blood group, Knops system
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DMD Cardiomyopathy, dilated, 3B
Becker muscular dystrophy
Duchenne muscular dystrophy
DNAH11 Ciliary dyskinesia, primary, 7
GYPA Blood group, Erik
Blood group, MN locus
GYPB Blood group, Ss
HFM1 Premature ovarian failure 9
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
IRF7 Immunodeficiency 39
ITGA8 Renal agenesis, bilateral
JUP Naxos disease
Arrhythmogenic right ventricular dysplasia, familial, 12
LAMC3 Cortical malformations, occipital
LRP1 Schizophrenia
LRRK2 Dementia, Lewy body
Parkinson disease 8
MSH3 Endometrial carcinoma
MYO3A Deafness, autosomal recessive 30
NME8 Ciliary dyskinesia, primary, 6
OTOGL Deafness, autosomal recessive 84B
PKHD1 Polycystic kidney disease, autosomal recessive
POMGNT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
PTF1A Pancreatic agenesis 2
Pancreatic and cerebellar agenesis
SLC12A1 Bartter syndrome, antenatal, type 1
TCN2 Transcobalamin II deficiency
TCOF1 Treacher Collins syndrome 1
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TTN Cardiomyopathy, dilated, 1G
Cardiomyopathy, familial hypertrophic 9
UVSSA UV-sensitive syndrome 3
VARS2 Combined oxidative phosphorylation deficiency 20
VWA3B Spinocerebellar ataxia, autosomal recessive 22

Genes at HGMD

Summary

Number of Variants: 238
Number of Genes: 217

Export to: CSV

ABCA10

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 17 rs11657804
dbSNP
67210992 2005.77 T C . 0/1 150 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.26158 0.26160 0.29885 0.30 0.16 None None None None None None None

ABCC11

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 rs11863236
dbSNP
48250026 930.77 G T . 0/1 77 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.12899 0.12900 0.14359 0.56 0.00 None None None None None None None

AC024592.12

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 rs778971
dbSNP
5867748 2955.77 G T . 1/1 87 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.63878 0.63880 0.46529 0.09 0.62 None None None None None None None

ACAT2

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 6 rs25683
dbSNP
160196343 4608.77 A G . 1/1 131 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.36522 0.36520 0.45433 0.04 0.02 None None None None None None None

ADCY1

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 rs45444695
dbSNP
45747949 186.77 G A . 0/1 20 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00859 0.00859 0.01038 0.42 0.03 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 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

AKAP13

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 15 rs116261620
dbSNP
86273745 213.77 A C . 0/1 29 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00160 0.00160 0.00315 0.13 0.65 None None None None None None None

ALDH7A1

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 rs12514417
dbSNP
125887715 346.77 T G . 0/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.09685 0.09685 0.07374 0.20 0.01 None None None None None None None

ANKDD1A

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 15 rs34988193
dbSNP
65235776 768.77 A G . 0/1 48 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.24621 0.24620 0.28673 0.00 0.98 None None None None None None None

ANKRD30A

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 rs200974283
dbSNP
37433982 2356.77 C G . 0/1 207 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00020 0.25 0.05 None None None None None None None
View mm170241ct 10 rs200164455
dbSNP
37433983 2268.77 G T . 0/1 208 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.19 0.05 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 rs2315148
dbSNP
97823845 806.77 A C . 0/1 852 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.61 0.01 None None None None None None None
View mm170241ct 2 rs10194525
dbSNP
97877478 2583.77 G A . 0/1 328 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.02 1.00 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 rs74946480
dbSNP
96619688 4772.77 T G . 0/1 491 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.06 0.30 None None None None None None None
View mm170241ct 2 rs78715705,rs778977672
dbSNP
96616527 447.77 A C . 0/1 493 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.01 0.00 None None None None None None None
View mm170241ct 2 rs62154594
dbSNP
96610921 32738.77 T G . 0/1 2665 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.28 0.41 None None None None None None None

APIP

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 11 rs61734605
dbSNP
34916657 2796.77 C T . 1/1 82 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.11462 0.11460 0.24946 0.07 0.05 None None None None None None None

APOBEC3H

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 22 rs139300
dbSNP
39497509 315.78 A G . 1/1 9 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

ARL2

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 11 rs664226
dbSNP
64789194 83.77 T C . 0/1 11 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.45767 0.45770 0.34562 1.00 0.00 None None None None None None None

ARMC4

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 rs7920186
dbSNP
28257852 51.77 C T . 0/1 128 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.11122 0.11120 0.46 0.00 None None None None None None None

ASAH1

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 rs1071645
dbSNP
17928811 4294.77 C T . 1/1 126 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.42053 0.42050 0.42427 0.19 0.00 None None None None None None None

AXDND1

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 rs11577579
dbSNP
179414105 2503.77 A C . 0/1 161 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.21286 0.21290 0.29785 0.19 0.00 None None None None None None None

BCAS1

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 rs394732
dbSNP
52675188 436.77 G T . 0/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.57608 0.57610 0.46033 1.00 0.00 None None None None None None None

BRD7

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 . 50362654 958.77 C T . 0/1 76 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.06 1.00 None None None None None None None

BRWD3

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 X rs3122407
dbSNP
79943569 12102.77 T C . 1/1 352 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None None

BTNL2

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 6 rs2076530
dbSNP
32363816 1080.77 T C . 0/1 62 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.38698 0.38700 0.39699 1.00 0.00 None None None None None None None

C10ORF68

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 rs4448627
dbSNP
33123824 5519.77 G C . 1/1 158 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.98363 0.98360 0.01772 1.00 0.00 None None None None None None None

C11orf52

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 11 rs7124407
dbSNP
111795085 727.77 C G . 0/1 46 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.33646 0.33650 0.26985 0.29 0.02 None None None None None None None

C12orf55

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 rs7978894
dbSNP
97136218 158.77 T C . 0/1 31 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.42911 0.42910 0.36185 0.88 0.10 None None None None None None None

C14orf178

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 rs8015313
dbSNP
78234796 1135.77 C T . 0/1 76 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.12001 0.12000 0.17433 0.42 0.01 None None None None None None None

C14orf37

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 rs45570237
dbSNP
58598437 205.77 G C . 0/1 15 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00339 0.00340 0.00615 0.08 0.09 None None None None None None None

C16orf71

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 rs859310
dbSNP
4787987 827.77 G A . 1/1 25 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.52816 0.52820 0.44344 0.55 0.00 None None None None None None None
View mm170241ct 16 rs2075469
dbSNP
4794873 442.77 C T . 1/1 12 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.55152 0.55150 0.40049 0.02 0.31 None None None None None None None

C1orf204

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 rs2501340
dbSNP
159824967 819.77 G C . 1/1 24 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.93111 0.93110 0.10075 1.00 0.00 None None None None None None None

C20orf96

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 rs3827147
dbSNP
256727 158.77 T A . 0/1 19 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None None

C2orf76

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 rs1132267
dbSNP
120078778 1668.77 T C . 1/1 50 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.65555 0.65560 0.29676 0.72 0.01 None None None None None None None

C2orf80

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 rs10804166
dbSNP
209036712 3017.77 T C . 1/1 89 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.85683 0.85680 0.10988 0.11 0.01 None None None None None None None

C5AR1

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 rs4467185
dbSNP
47823038 2074.77 G A . 1/1 61 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.96945 0.96940 0.03260 0.24 0.50 None None None None None None None

C5orf45

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 rs1650893
dbSNP
179280379 725.77 T C . 0/1 59 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.34507 1.00 0.00 None None None None None None None

C6orf100

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 6 rs2071790
dbSNP
28911802 1231.77 G A . 1/1 38 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.67772 0.67770 1.00 0.00 None None None None None None None

C7orf25

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 rs647117
dbSNP
42951515 503.77 G A . 1/1 14 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.63039 0.63040 0.07 0.00 None None None None None None None

CALCOCO2

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 rs550510
dbSNP
46926615 422.77 G A . 0/1 54 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.24321 0.24320 0.10534 0.14 0.35 None None None None None None None

CAMKK1

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 rs7214723
dbSNP
3775848 1502.77 T C . 1/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.39537 0.39540 0.35307 0.05 0.19 None None None None None None None

CCDC175

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 rs17834244
dbSNP
60034964 600.77 C T . 0/1 61 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00839 0.00839 0.02409 0.08 0.97 None None None None None None None

CCHCR1

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 6 rs11540822
dbSNP
31118898 872.77 A T . 0/1 53 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.06410 0.06410 0.06332 0.00 0.96 None None None None None None None

CD109

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 6 rs10455097
dbSNP
74493432 2628.77 A C . 0/1 195 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.51558 0.51560 0.44364 1.00 0.00 None None None None None None None

CDC27

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 rs74348171
dbSNP
45214519 931.77 A G . 0/1 588 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None None

CDH23

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 rs3802719
dbSNP
73270982 1633.77 G A . 1/1 47 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.72524 0.72520 0.26035 0.65 0.00 None None None None None None None

CDK11A

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 rs1059830
dbSNP
1650797 1421.77 A G . 0/1 147 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 1.00 0.00 None None None None None None None

CDRT15

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 rs4791565
dbSNP
14139891 741.77 A C . 1/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.02157 0.96900 0.18 0.00 None None None None None None None

CELA1

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 rs117443541
dbSNP
51740409 90.28 T G . 1/1 3 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.36741 0.36740 0.13 0.05 None None None None None None None

CENPE

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 rs148969710
dbSNP
104060947 2161.77 C G . 0/1 180 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00140 0.00140 0.00123 0.12 None None None None None None None

CENPU

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 rs902174
dbSNP
185655171 248.77 C T . 0/1 36 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.33726 0.33730 0.19143 0.28 0.00 None None None None None None None

CEP63

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 rs1127826
dbSNP
134278270 2426.77 C T . 0/1 136 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.32708 0.32710 0.26734 0.71 0.00 None None None None None None None

CHAF1A

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 rs9352
dbSNP
4442336 348.77 C T . 0/1 37 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.56789 0.56790 0.48109 0.05 0.64 None None None None None None T|.

CHAT

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 10 rs4838544
dbSNP
50856652 538.77 G A . 1/1 18 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.96645 0.96650 0.03898 1.00 0.01 None None None None None None None

CHN2

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 rs245881
dbSNP
29186576 1928.77 A G . 1/1 54 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.83227 0.83230 0.68 0.00 None None None None None None None

CILP

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 15 rs2073711
dbSNP
65494212 87.28 A G . 1/1 3 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.49661 0.49660 0.36379 0.10 0.00 None None None None None None None

COL11A2

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 6 rs2855430
dbSNP
33141280 462.77 G A . 0/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.10224 0.10220 0.09618 0.86 None None None None None None None

COL5A3

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 19 rs2287803
dbSNP
10112346 3544.77 T C . 1/1 100 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.92971 0.92970 0.02391 0.00 None None None None None None None

CPA6

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 8 rs17343819
dbSNP
68396915 1178.77 T C . 0/1 96 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.07907 0.07907 0.12410 0.35 0.00 None None None None None None None

CR1

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 rs2296160
dbSNP
207795320 3443.77 A G . 1/1 98 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.82808 0.82810 0.18299 0.87 0.00 None None None None None None None

CRTAM

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 11 rs2272094
dbSNP
122738261 769.77 A G . 0/1 45 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.55032 0.55030 0.37848 1.00 0.06 None None None None None None None

CTC1

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 rs3826543
dbSNP
8132763 452.77 T C . 0/1 40 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.66354 0.66350 0.19913 1.00 0.00 None None None None None None None

CYP20A1

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 2 rs2043449
dbSNP
204116690 2465.77 C T . 0/1 147 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.86941 0.86940 0.11187 0.38 0.01 None None None None None None None

CYP2A7

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 19 rs10425176
dbSNP
41387656 413.77 A T . 1/1 15 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.51817 0.51820 0.20 0.00 None None None None None None None

CYP2D7P

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 22 rs2854741
dbSNP
42537404 469.77 G C . 0/1 33 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.82768 0.82770 0.00 None None None None None None None

DBNDD2

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 20 rs1127497
dbSNP
44038574 460.77 A G . 0/1 40 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.76118 0.76120 0.16398 1.00 0.00 None None None None None None None

DDX27

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 20 rs1130146
dbSNP
47859217 3752.77 G A . 0/1 208 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.27256 0.27260 0.28841 0.04 0.96 None None None None None None None

DENND2A

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 7 rs6464833
dbSNP
140227293 271.77 A G . 0/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.16953 0.16950 0.17665 1.00 0.00 None None None None None None None

DHODH

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 16 rs3213422
dbSNP
72042682 244.77 A C . 0/1 16 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.56410 0.56410 0.45535 0.19 0.01 None None None None None None None

DHRS4L2

Omim - GeneCards - NCBI
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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 14 rs113351006
dbSNP
24458283 137.77 G T . 0/1 9 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.02256 0.02256 0.02145 0.02 0.99 None None None None None None None

DKKL1

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 19 rs2303759
dbSNP
49869051 931.77 T G . 0/1 65 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.31829 0.31830 0.27249 0.00 0.43 None None None None None None None

DLL3

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 19 rs1110627
dbSNP
39994711 129.77 T C . 0/1 14 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.62999 0.63000 0.40989 1.00 0.00 None None None None None None None

DMD

Omim - GeneCards - NCBI
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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 X rs1800275
dbSNP
31893307 1365.77 T G . 0/1 95 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.18331 0.18330 0.20464 0.00 None None None None None None None

DNAH10

Omim - GeneCards - NCBI
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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 12 rs61732737
dbSNP
124360037 1277.77 C T . 0/1 95 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.02496 0.02496 0.01420 0.01 None None None None None None None
View mm170241ct 12 rs10846559
dbSNP
124274474 1483.77 A G . 1/1 42 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.83786 0.83790 0.26941 0.00 None None None None None None None

DNAH11

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 7 rs12537531
dbSNP
21932044 573.77 C T . 0/1 40 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.36841 0.36840 0.36785 0.00 None None None None None None None

DNAH14

Omim - GeneCards - NCBI
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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 1 rs3128658
dbSNP
225273248 5820.77 G T . 1/1 163 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.70208 0.70210 0.17487 0.01 None None None None None None None

DNPEP

Omim - GeneCards - NCBI
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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 2 rs907679
dbSNP
220250147 630.77 A G . 1/1 21 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 1.00000 1.00000 0.00008 0.71 0.00 None None None None None None None

DTX2

Omim - GeneCards - NCBI
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Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs147644708
dbSNP
76129758 11.12 G A LowQual 0/1 47 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.32 0.00 None None None None None None None

EFCAB4A

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 11 rs28558789
dbSNP
829539 197.84 A G . 1/1 7 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.66554 0.66550 0.33928 1.00 0.00 None None None None None None T

EPHA1

Omim - GeneCards - NCBI
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View mm170241ct 7 rs6967117
dbSNP
143088867 1430.77 T C . 1/1 44 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.96026 0.96030 0.07712 1.00 0.00 None None None None None None None

EXD3

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 rs7389423
dbSNP
140250818 443.77 C T . 0/1 33 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.92073 0.92070 0.10805 1.00 0.00 None None None None None None None

FAM129C

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 rs8107859
dbSNP
17648350 229.8 T C . 1/1 7 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.90096 0.90100 0.02124 1.00 0.00 None None None None None None None

FAM149A

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 rs9991339
dbSNP
187088248 1332.77 C T . 0/1 90 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.07089 0.07089 0.07104 0.04 0.19 None None None None None None None

FAM153A

Omim - GeneCards - NCBI
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View mm170241ct 5 rs2014864
dbSNP
177163580 218.78 A G . 1/1 42 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.22444 0.22440 0.93 0.00 None None None None None None None

FER1L6

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 rs7012186
dbSNP
125076589 1155.77 T G . 1/1 32 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.77336 0.77340 0.15575 1.00 0.00 None None None None None None None

FMN1

Omim - GeneCards - NCBI
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View mm170241ct 15 rs2291065
dbSNP
33381000 2377.77 A T . 0/1 184 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.23343 0.23340 0.00 None None None None None None None

FOCAD

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 rs10511687
dbSNP
20764870 2718.77 T C . 0/1 185 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.28095 0.28100 0.35084 0.98 0.00 None None None None None None None
View mm170241ct 9 rs4977881
dbSNP
20988426 7189.77 A G . 1/1 219 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.76857 0.76860 0.25704 1.00 0.00 None None None None None None None

FOLH1

Omim - GeneCards - NCBI
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View mm170241ct 11 rs202676
dbSNP
49227620 7650.77 A G . 0/1 557 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.38638 0.38640 0.32566 0.13 0.00 None None None None None None None

FRG1

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 rs200322789
dbSNP
190876192 138.77 A C . 0/1 572 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.52 None None None None None None None
View mm170241ct 4 . 190876305 28.77 A T LowQual 0/1 494 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.02 None None None None None None None

FRG1B

Omim - GeneCards - NCBI
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View mm170241ct 20 rs60081496
dbSNP
29633900 6341.77 A G . 0/1 2610 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.21 0.00 None None None None None None None
View mm170241ct 20 rs78003242
dbSNP
29625873 2551.77 A C . 0/1 3785 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.01 0.73 None None None None None None None

GALNTL5

Omim - GeneCards - NCBI
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View mm170241ct 7 rs6960270
dbSNP
151680072 3923.77 T C . 1/1 117 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.80112 0.80110 0.18069 0.00 1.00 None None None None None None None

GALP

Omim - GeneCards - NCBI
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View mm170241ct 19 rs3745833
dbSNP
56693620 434.77 C G . 0/1 33 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.32548 0.32550 0.35407 0.04 0.32 None None None None None None None

GANC

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 15 rs8043515
dbSNP
42568547 4032.77 C G . 1/1 118 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.95447 0.95450 0.02061 0.00 None None None None None None None

GYPA

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 rs4449373
dbSNP
145041741 4207.77 T G . 1/1 138 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.87520 0.87520 0.34 0.00 None None None None None None None