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Genes:
AAGAB, ABHD17C, AC019294.1, ACAN, ACSBG1, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AGBL1, AKAP13, ALDH1A2, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANPEP, ANXA2, AP4E1, APH1B, AQP9, AQR, ARHGAP11A, ARID3B, ARNT2, ARRDC4, ATP10A, ATP8B4, BAHD1, BBS4, BCL2A1, BCL2L10, BNIP2, BUB1B, C15ORF37, C15orf39, C15orf40, C15orf41, C15orf52, C15orf54, C15orf56, C15orf61, C2CD4B, CASC4, CASC5, CCDC33, CCPG1, CD276, CDAN1, CELF6, CERS3, CGNL1, CHD2, CHRFAM7A, CHRNA7, CHRNB4, CHSY1, CILP, CPEB1, CRABP1, CRTC3, CSPG4, CTD-2054N24.2, CTSH, CYFIP1, CYP19A1, DAPK2, DENND4A, DIS3L, DISP2, DKFZP779J2370, DLL4, DMXL2, DNAJA4, DUOX1, DUOX2, DUOXA2, DYX1C1, EFTUD1, EHD4, EIF2AK4, EXD1, FAM169B, FAM174B, FAM189A1, FAM214A, FAM81A, FAM96A, FANCI, FBN1, FEM1B, FES, FMN1, FSD2, FSIP1, GABRA5, GABRB3, GABRG3, GANC, GATM, GCOM1, GDPGP1, GJD2, GLCE, GLDN, GNB5, GOLGA6L2, GOLGA8B, GOLGA8I, GOLGA8R, HCN4, HERC1, HERC2, HEXA, HYKK, IDH3A, IGDCC3, IGDCC4, IGF1R, IGHV1OR15-1, IGHV1OR15-9, IL16, IMP3, IQCH, IQGAP1, IREB2, ISG20, ISL2, ISLR, ITGA11, IVD, JMJD7-PLA2G4B, KBTBD13, KIAA1024, KIAA1199, KIF23, KIF7, KLHL25, KNSTRN, LACTB, LARP6, LINS, LIPC, LOXL1, LRRC49, LRRK1, LYSMD4, MAN2A2, MAN2C1, MAPKBP1, MCTP2, MEF2A, MEGF11, MESP1, MESP2, MFGE8, MGA, MTFMT, MTHFS, MTMR10, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, NARG2, NDUFAF1, NEDD4, NEO1, NIPA1, NMB, NOX5, NPAP1, NRG4, NTRK3, NUTM1, OCA2, OR4M2, OR4N4, OTUD7A, PAK6, PARP16, PATL2, PCSK6, PDIA3, PEAK1, PEX11A, PGPEP1L, PIF1, PLA2G4D, PLA2G4E, PLA2G4F, PLIN1, PML, POLR2M, PPCDC, PRC1, PSMA4, RAB8B, RASGRF1, RASL12, RCCD1, RFX7, RGMA, RNF111, RORA, RP11-133K1.2, RP11-351M8.1, RP11-625H11.1, RP11-89K11.1, RPAP1, RYR3, SEMA4B, SEMA6D, SENP8, SH2D7, SHC4, SHF, SKOR1, SLC12A1, SLC12A6, SLC27A2, SLC28A1, SLC28A2, SLCO3A1, SMAD3, SNX1, SORD, SPATA5L1, SPESP1, SPG11, SPG21, SPINT1, SPRED1, SPTBN5, SQRDL, SRP14, ST20, STARD9, STOML1, STRA6, SV2B, SYNM, TARSL2, TBC1D2B, TGM5, TGM7, THBS1, TICRR, TIPIN, TJP1, TLE3, TLN2, TM2D3, TM6SF1, TMC3, TMED3, TMEM87A, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TTLL13, TYRO3, UACA, UBE2Q2, UBR1, UNC13C, UNC45A, USP3, USP8, VPS13C, VPS33B, WDR72, WDR73, WDR76, WDR93, WHAMM, ZFYVE19, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZNF774, ZSCAN2,

Genes at Omim

AAGAB, ACAN, ADAMTS17, AGBL1, AP4E1, ARNT2, BBS4, BUB1B, C15orf41, CASC5, CDAN1, CERS3, CHD2, CHRNA7, CHSY1, CILP, CYP19A1, DLL4, DMXL2, DUOX2, DUOXA2, DYX1C1, EIF2AK4, FANCI, FBN1, GABRB3, GATM, HCN4, HERC1, HERC2, HEXA, IGF1R, IVD, KBTBD13, KIF7, LIPC, LOXL1, MEF2A, MESP2, MTFMT, MYO1E, MYO5A, NDUFAF1, NIPA1, OCA2, PLIN1, PML, SLC12A1, SLC12A6, SMAD3, SORD, SPG11, SPRED1, STRA6, TGM5, TPM1, TRIP4, TRPM1, TRPM7, TTBK2, UBR1, VPS13C, VPS33B, WDR72, WDR73,
AAGAB Keratoderma, palmoplantar, punctate type IA, 148600 (3)
ACAN Osteochondritis dissecans, short stature, and early-onset osteoarthritis, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
ADAMTS17 Weill-Marchesani-like syndrome, 613195 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
AP4E1 Spastic paraplegia 51, autosomal recessive, 613744 (3)
Stuttering, familial persistent, 1, 184450 (3)
ARNT2 ?Webb-Dattani syndrome, 615926 (3)
BBS4 Bardet-Biedl syndrome 4, 615982 (3)
BUB1B Colorectal cancer, somatic, 114500 (3)
Mosaic variegated aneuploidy syndrome 1, 257300 (3)
[Premature chromatid separation trait], 176430 (3)
C15orf41 Dyserythropoietic anemia, congenital, type Ib, 615631 (3)
CASC5 Microcephaly 4, primary, autosomal recessive, 604321 (3)
CDAN1 Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
CERS3 Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
CHD2 Epileptic encephalopathy, childhood-onset, 615369 (3)
CHRNA7 Schizophrenia, neurophysiologic defect in (2)
CHSY1 Temtamy preaxial brachydactyly syndrome, 605282 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
CYP19A1 Aromatase deficiency, 613546 (3)
Aromatase excess syndrome, 139300 (3)
DLL4 Adams-Oliver syndrome 6, 616589 (3)
DMXL2 ?Polyendocrine-polyneuropathy syndrome, 616113 (3)
DUOX2 Thryoid dyshormonogenesis 6, 607200 (3)
DUOXA2 Thyroid dyshormonogenesis 5, 274900 (3)
DYX1C1 Ciliary dyskinesia, primary, 25, 615482 (3)
{Dyslexia, susceptibility to, 1}, 127700 (3)
EIF2AK4 Pulmonary venoocclusive disease 2, 234810 (3)
FANCI Fanconi anemia, complementation group I, 609053 (3)
FBN1 Acromicric dysplasia, 102370 (3)
Aortic aneurysm, ascending, and dissection (3)
Ectopia lentis, familial, 129600 (3)
Geleophysic dysplasia 2, 614185 (3)
MASS syndrome, 604308 (3)
Marfan lipodystrophy syndrome, 616914 (3)
Marfan syndrome, 154700 (3)
Stiff skin syndrome, 184900 (3)
Weill-Marchesani syndrome 2, dominant, 608328 (3)
GABRB3 Epileptic encephalopathy, early infantile, 43, 617113 (3)
{Epilepsy, childhood absence, susceptibility to, 5}, 612269 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
HCN4 Brugada syndrome 8, 613123 (3)
Sick sinus syndrome 2, 163800 (3)
HERC1 Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HEXA GM2-gangliosidosis, several forms, 272800 (3)
Tay-Sachs disease, 272800 (3)
[Hex A pseudodeficiency], 272800 (3)
IGF1R Insulin-like growth factor I, resistance to, 270450 (3)
IVD Isovaleric acidemia, 243500 (3)
KBTBD13 Nemaline myopathy 6, autosomal dominant, 609273 (3)
KIF7 ?Al-Gazali-Bakalinova syndrome, 607131 (3)
?Hydrolethalus syndrome 2, 614120 (3)
Acrocallosal syndrome, 200990 (3)
Joubert syndrome 12, 200990 (3)
LIPC Hepatic lipase deficiency, 614025 (3)
[High density lipoprotein cholesterol level QTL 12], 612797 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
LOXL1 {Exfoliation syndrome, susceptibility to}, 177650 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MTFMT Combined oxidative phosphorylation deficiency 15, 614947 (3)
MYO1E Glomerulosclerosis, focal segmental, 6, 614131 (3)
MYO5A Griscelli syndrome, type 1, 214450 (3)
NDUFAF1 Mitochondrial complex I deficiency, 252010 (3)
NIPA1 Spastic paraplegia 6, autosomal dominant, 600363 (3)
OCA2 Albinism, brown oculocutaneous, 203200 (3)
Albinism, oculocutaneous, type II, 203200 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
PLIN1 Lipodystrophy, familial partial, type 4, 613877 (3)
PML Leukemia, acute promyelocytic, PML/RARA type (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SMAD3 Loeys-Dietz syndrome 3, 613795 (3)
SORD ?Cataract, congenital (2)
SPG11 Amyotrophic lateral sclerosis 5, juvenile, 602099 (3)
Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3)
Spastic paraplegia 11, autosomal recessive, 604360 (3)
SPRED1 Legius syndrome, 611431 (3)
STRA6 Microphthalmia, isolated, with coloboma 8, 601186 (3)
Microphthalmia, syndromic 9, 601186 (3)
TGM5 Peeling skin syndrome 2, 609796 (3)
TPM1 Cardiomyopathy, dilated, 1Y, 611878 (3)
Cardiomyopathy, hypertrophic, 3, 115196 (3)
Left ventricular noncompaction 9, 611878 (3)
TRIP4 ?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3)
Spinal muscular atrophy with congenital bone fractures 1, 616866 (3)
TRPM1 Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TRPM7 {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TTBK2 Spinocerebellar ataxia 11, 604432 (3)
UBR1 Johanson-Blizzard syndrome, 243800 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
VPS33B Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
WDR72 Amelogenesis imperfecta, type IIA3, 613211 (3)
WDR73 Galloway-Mowat syndrome, 251300 (3)

Genes at Clinical Genomics Database

AAGAB, ACAN, ADAMTS17, AGBL1, AP4E1, ARNT2, BBS4, BUB1B, CDAN1, CERS3, CHD2, CHSY1, CYP19A1, DLL4, DMXL2, DUOX2, DUOXA2, DYX1C1, EIF2AK4, FANCI, FBN1, GABRB3, GATM, HCN4, HERC2, HEXA, IGF1R, IVD, KBTBD13, KIF7, LIPC, MESP2, MTFMT, MYO1E, MYO5A, NDUFAF1, NIPA1, OCA2, PLIN1, SLC12A1, SLC12A6, SMAD3, SPG11, SPG21, SPRED1, STRA6, TGM5, TPM1, TRIP4, TRPM1, TTBK2, UBR1, VPS13C, WDR72, WDR73, ZNF592,
AAGAB Keratoderma, palmoplantar, punctate type IA
ACAN Osteochondritis dissecans, short stature, and early-onset osteoarthritis
Spondyloepiphyseal dysplasia, Kimberley type
Spondyloepimetaphyseal dysplasia, aggrecan type
ADAMTS17 Weill-Marchesani-like syndrome
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
AP4E1 Spastic paraplegia 51, autosomal recessive
Stuttering, familial persistent, 1
ARNT2 Webb-Datani syndrome
BBS4 Bardet-Biedl syndrome 4
BUB1B Premature chromatid separation trait
Mosaic variegated aneuploidy syndrome
CDAN1 Anemia, dyserythropoietic congenital, type Ia
CERS3 Ichthyosis, congenital, autosomal recessive 9
CHD2 Epileptic encephalopathy, childhood-onset
CHSY1 Temtamy preaxial brachydactyly syndrome
CYP19A1 Aromatase deficiency
DLL4 Adams-Oliver syndrome 6
DMXL2 Polyendocrine-polyneuropathy syndrome
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
DYX1C1 Ciliary dyskinesia, primary 25
EIF2AK4 Pulmonary venoocclusive disease 2
FANCI Fanconi anemia, complementation group I
FBN1 Marfan lipodystrophy syndrome
Shprintzen-Goldberg syndrome
MASS syndrome
Marfan syndrome
GABRB3 Epilepsy, childhood absence, susceptibility to, 5
GATM Cerebral creatine deficiency syndrome 3
HCN4 Sick sinus syndrome 2
Brugada syndrome 8
HERC2 Mental retardation, autosomal recessive 38
Skin/hair/eye pigmentation 1
HEXA Hexosaminidase A deficiency
GM2-gangliosidosis
Tay-Sachs disease
IGF1R Insulin-like growth factor I, resistance to
IVD Isovaleric acidemia
KBTBD13 Nemaline myopathy 6
KIF7 Al-Gazali-Bakalinova syndrome
Joubert syndrome 12
Acrocallosal syndrome
Hydrolethalus syndrome 2
LIPC Hepatic lipase deficiency
MESP2 Spondylocostal dysostosis 2, autosomal recessive
MTFMT Combined oxidative phosphorylation deficiency 15
MYO1E Focal segmental glomerulosclerosis 6
MYO5A Griscelli syndrome, type 1
NDUFAF1 Mitochondrial complex I deficiency
NIPA1 Spastic paraplegia 6
OCA2 Skin/hair/eye pigmentation 1
Albinism, brown oculocutaneous
Albinism, oculocutaneous, type II
PLIN1 Lipodystrophy, familial partial, type 4
SLC12A1 Bartter syndrome, antenatal, type 1
SLC12A6 Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SMAD3 Loeys-Dietz syndrome, type 3
Aneurysms-osteoarthritis syndrome
SPG11 Spastic paraplegia 11
Charcot-Marie-Tooth disease, axonal, type 2X
Amyotrophic lateral sclerosis 5, juvenile recessive
SPG21 Spastic paraplegia 21 (Mast syndrome)
SPRED1 Legius syndrome
STRA6 Microphthalmia, isolated, with coloboma 8
Microphthalmia, syndromic 9
TGM5 Peeling skin syndrome 2
TPM1 Cardiomyopathy, familial hypertrophic, 3
Cardiomyopathy, dilated, 1Y
TRIP4 Spinal muscular atrophy with congenital bone fractures 1 (AR)
TRPM1 Night blindness, congenital stationary, type 1C
TTBK2 Spinocerebellar ataxia 11
UBR1 Johanson-Blizzard syndrome
VPS13C Parkinson disease 23, autosomal recessive, early onset
WDR72 Amelogenesis imperfecta, hypomaturation type, IIA3
WDR73 Galloway-Mowat syndrome
ZNF592 Spinocerebellar ataxia, autosomal recessive 5

Genes at HGMD

Summary

Number of Variants: 4348
Number of Genes: 292

Export to: CSV

AAGAB

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 15 rs7173826
dbSNP
67528374 5166.77 T G . 0/1 407 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36342 0.36340 0.25390 0.48 0.99 None None None None None None None

ABHD17C

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 15 rs62007944
dbSNP
80987812 400.77 T C . 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.97744 0.97740 0.01825 None None None None None None None

AC019294.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 15 rs12904654
dbSNP
76030993 126.85 A G . 0/1 7 SYNONYMOUS_STOP LOW SILENT 0.30272 0.30270 None None None None None None None

ACAN

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 15 rs938608
dbSNP
89398605 1591.77 G T . 1/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45268 0.45270 0.40313 0.01 0.84 None None None None None None None
View mm170241ct 15 rs1568116
dbSNP
89392745 1620.77 T C . 1/1 46 SYNONYMOUS_CODING LOW SILENT 0.99561 0.99560 0.00990 None None None None None None None
View mm170241ct 15 rs3743399
dbSNP
89398330 2394.77 G A . 1/1 70 SYNONYMOUS_CODING LOW SILENT 0.00040 0.75900 0.13242 None None None None None None None
View mm170241ct 15 rs1042631
dbSNP
89402239 2651.77 T C . 1/1 85 SYNONYMOUS_CODING LOW SILENT 0.73642 0.73640 0.18514 None None None None None None None
View mm170241ct 15 rs3817428
dbSNP
89415247 3125.77 C G . 1/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11422 0.11420 0.20206 0.00 0.70 None None None None None None None
View mm170241ct 15 rs4932439
dbSNP
89401109 2912.77 A G . 1/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76038 0.76040 0.13224 1.00 0.01 None None None None None None None
View mm170241ct 15 rs1042630
dbSNP
89402051 994.77 A G . 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64597 0.64600 0.26503 0.20 0.01 None None None None None None None
View mm170241ct 15 rs2272023
dbSNP
89391160 678.77 C A . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.69429 0.69430 0.20369 None None None None None None None
View mm170241ct 15 rs2351491
dbSNP
89398105 2254.77 C T . 1/1 70 SYNONYMOUS_CODING LOW SILENT 0.35004 0.35000 0.47549 None None None None None None None
View mm170241ct 15 rs698621
dbSNP
89402596 3080.77 T G . 1/1 95 SYNONYMOUS_CODING LOW SILENT 0.45148 0.45150 0.45219 None None None None None None None
View mm170241ct 15 rs3743398
dbSNP
89398407 2410.77 C T . 1/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08167 0.08167 0.14704 0.04 0.99 None None None None None None None
View mm170241ct 15 rs938609
dbSNP
89398631 1321.77 T A . 1/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39217 0.39220 0.43306 0.07 0.22 None None None None None None None
View mm170241ct 15 rs3825994
dbSNP
89401615 1896.77 T G . 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.53255 0.53250 0.35216 None None None None None None None
View mm170241ct 15 rs2882676
dbSNP
89400339 2165.77 A C . 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42412 0.42410 0.43105 0.19 0.12 None None None None None None None

ACSBG1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 15 rs2304824
dbSNP
78466127 1010.77 T C . 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52676 0.52680 0.43674 0.87 0.00 None None None None None None None

ADAMTS17

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 15 rs61752832
dbSNP
100649248 404.77 G A . 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.08526 0.08526 0.08811 None None None None None None None
View mm170241ct 15 rs12907333
dbSNP
100672237 1283.77 T G . 1/1 40 SYNONYMOUS_CODING LOW SILENT 0.99760 0.99760 0.00162 None None None None None None None
View mm170241ct 15 rs2573652
dbSNP
100514614 248.77 T C . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67951 0.67950 0.28556 1.00 0.00 None None None None None None None
View mm170241ct 15 rs7496640
dbSNP
100821467 75.77 G A . 0/1 5 SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.38498 None None None None None None None
View mm170241ct 15 rs4965613
dbSNP
100801698 235.8 G A . 1/1 11 SYNONYMOUS_CODING LOW SILENT 0.69209 0.69210 0.32600 None None None None None None None
View mm170241ct 15 rs4369638
dbSNP
100794363 3989.77 C T . 1/1 114 SYNONYMOUS_CODING LOW SILENT 0.82149 0.82150 0.25465 None None None None None None None
View mm170241ct 15 rs7496668
dbSNP
100821576 38.77 G A . 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48463 0.48460 0.36257 0.16 0.00 None None None None None None None

ADAMTS7

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 15 rs1809421
dbSNP
79058572 202.84 T G . 1/1 7 SYNONYMOUS_CODING LOW SILENT 0.00080 0.00080 0.06722 None None None None None None None
View mm170241ct 15 rs7495616
dbSNP
79054900 282.78 C G . 1/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66653 0.66650 0.26927 1.00 0.00 None None None None None None None
View mm170241ct 15 rs3743057
dbSNP
79089007 425.77 T C . 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.79253 0.79250 0.25304 None None None None None None None

ADAMTSL3

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 15 rs8031704
dbSNP
84651185 1130.77 C A . 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.37600 0.37600 0.40989 None None None None None None None
View mm170241ct 15 rs7176737
dbSNP
84651290 1976.77 T C . 1/1 61 SYNONYMOUS_CODING LOW SILENT 0.86921 0.86920 0.16600 None None None None None None None
View mm170241ct 15 rs4842923
dbSNP
84581904 1093.77 T C . 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.68610 0.68610 0.38175 None None None None None None None
View mm170241ct 15 rs4483821
dbSNP
84488636 981.77 A G . 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67931 0.67930 0.43749 0.57 0.00 None None None None None None None
View mm170241ct 15 rs12439867
dbSNP
84581889 277.77 G A . 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.38638 0.38640 0.28833 None None None None None None None
View mm170241ct 15 rs4144691
dbSNP
84539619 4680.77 C G . 1/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80751 0.80750 0.15170 1.00 0.00 None None None None None None None
View mm170241ct 15 rs2277849
dbSNP
84639350 706.77 C T . 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26038 0.26040 0.29263 0.04 0.63 None None None None None None None
View mm170241ct 15 rs4842838
dbSNP
84582124 2203.77 G T . 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68570 0.68570 0.38182 1.00 0.00 None None None None None None None

ADPGK

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 rs11634630
dbSNP
73067234 3770.77 T C . 1/1 113 SYNONYMOUS_CODING LOW SILENT 0.96006 0.96010 0.03962 None None None None None None None
View mm170241ct 15 rs8023358
dbSNP
73052845 1283.77 A G . 0/1 94 SYNONYMOUS_CODING LOW SILENT 0.19569 0.19570 0.17421 None None None None None None None
View mm170241ct 15 rs34149613
dbSNP
73044863 601.77 G A . 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05491 0.05491 0.09826 0.42 0.00 None None None None None None None
View mm170241ct 15 rs8024644
dbSNP
73052840 1489.77 T C . 0/1 103 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20627 0.20630 0.18299 0.29 0.28 None None None None None None None

AEN

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 rs8027765
dbSNP
89169858 1936.77 A G . 1/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75839 0.75840 0.18626 1.00 0.00 None None None None None None None
View mm170241ct 15 rs8026929
dbSNP
89169703 433.77 C G . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07588 0.07588 0.09263 0.00 0.71 None None None None None None None
View mm170241ct 15 rs3743475
dbSNP
89172558 1947.77 G C . 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.75240 0.75240 0.19457 None None None None None None None

AGBL1

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 rs8028043
dbSNP
87217613 949.77 A G . 1/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89217 0.89220 0.11030 1.00 0.00 None None None None None None None
View mm170241ct 15 rs1566088
dbSNP
86806029 2416.77 C T . 0/1 150 SYNONYMOUS_CODING LOW SILENT 0.30818 None None None None None None None
View mm170241ct 15 rs1353578
dbSNP
86800209 687.77 C T . 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.53974 0.53970 0.35463 None None None None None None None
View mm170241ct 15 rs4362360
dbSNP
86940622 1635.77 T C . 0/1 115 SYNONYMOUS_CODING LOW SILENT 0.74421 0.74420 0.39279 None None None None None None None
View mm170241ct 15 rs1006030
dbSNP
87531281 972.77 A C . 0/1 119 SYNONYMOUS_CODING LOW SILENT 0.82069 0.82070 0.19396 None None None None None None None
View mm170241ct 15 rs10520618
dbSNP
86807761 1962.77 A G . 0/1 108 SYNONYMOUS_CODING LOW SILENT 0.50539 0.50540 0.47409 None None None None None None None
View mm170241ct 15 rs11858435
dbSNP
86814866 1251.77 A G . 0/1 101 SYNONYMOUS_CODING LOW SILENT 0.68211 0.68210 0.26808 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 rs16943792
dbSNP
86284342 159.77 C T . 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.23662 0.23660 0.17767 None None None None None None None
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
View mm170241ct 15 rs7179919
dbSNP
86125304 254.77 C T . 0/1 24 SYNONYMOUS_CODING LOW SILENT 0.19229 0.19230 0.12610 None None None None None None None
View mm170241ct 15 rs114703106
dbSNP
86123809 927.77 C T . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00200 0.00200 0.00646 0.01 0.56 None None None None None None None
View mm170241ct 15 rs2291049
dbSNP
86087309 2588.77 T C . 1/1 80 None None None 0.74421 0.74420 None None None None None None None

ALDH1A2

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 rs72739147
dbSNP
58571401 1210.77 A T . 0/1 63 None None None 0.12260 0.12260 0.01 0.00 None None None None None None None
View mm170241ct 15 rs4646626
dbSNP
58256127 989.77 C T . 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37280 0.37280 0.47193 0.33 0.00 None None None None None None None

ALPK3

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 rs3803406
dbSNP
85383839 1920.77 G A . 1/1 55 SYNONYMOUS_CODING LOW SILENT 0.74361 0.74360 0.32490 None None None None None None None
View mm170241ct 15 rs167379
dbSNP
85401419 2083.77 T C . 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.84784 0.84780 0.16228 None None None None None None None
View mm170241ct 15 rs306197
dbSNP
85401259 1297.77 C T . 1/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80471 0.80470 0.21088 0.84 0.00 None None None None None None None
View mm170241ct 15 rs11857356
dbSNP
85360101 586.77 T C . 1/1 20 SYNONYMOUS_CODING LOW SILENT 0.86482 0.86480 0.14436 None None None None None None None
View mm170241ct 15 rs34407151
dbSNP
85382307 288.77 G A . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00539 0.00539 0.01054 0.03 0.46 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 rs2414865
dbSNP
65236875 485.77 T C . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.55292 0.55290 0.45293 None None None None None None None
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

ANKRD34C

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 rs8038778
dbSNP
79586361 1130.77 T C . 0/1 81 SYNONYMOUS_CODING LOW SILENT 0.68371 0.68370 None None None None None None None

ANKRD63

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 rs4924446
dbSNP
40573716 283.78 A G . 1/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99701 0.99700 1.00 0.00 None None None None None None None

ANPEP

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 rs25651
dbSNP
90335788 358.77 C T . 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35064 0.35060 0.37537 1.00 0.00 None None None None None None None
View mm170241ct 15 rs25654
dbSNP
90334240 685.77 A G . 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.31350 0.31350 0.33221 None None None None None None None
View mm170241ct 15 rs8192297
dbSNP
90344352 239.77 T C . 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22085 0.22080 0.14202 0.11 0.00 None None None None None None None

ANXA2

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 rs12904657
dbSNP
60690089 440.77 A G . 1/1 14 SYNONYMOUS_CODING LOW SILENT 0.79433 0.79430 0.25341 None None None None None None None
View mm170241ct 15 rs4775262
dbSNP
60666686 1995.77 C T . 0/1 155 None None None 0.09645 0.09645 None None None None None None None

AP4E1

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 rs2306331
dbSNP
51217361 4038.77 T C . 1/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44090 0.44090 0.43713 1.00 0.00 None None None None None None None
View mm170241ct 15 rs3825798
dbSNP
51294832 647.77 G A . 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.20407 0.20410 0.18963 None None None None None None None

APH1B

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 rs1047552
dbSNP
63597857 544.77 T G . 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08007 0.08007 0.03867 0.00 0.10 None None None None None None None

AQP9

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 rs2249783
dbSNP
58471368 800.77 C T . 1/1 27 SYNONYMOUS_CODING LOW SILENT 0.83646 0.83650 0.09948 None None None None None None None
View mm170241ct 15 rs1867380
dbSNP
58476281 3540.77 A G . 1/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84285 0.84290 0.09940 1.00 0.00 None None None None None None None

AQR

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 rs9920529
dbSNP
35256624 2049.77 C G . 1/1 57 None None None 0.70088 0.70090 None None None None None None None
View mm170241ct 15 rs8035240
dbSNP
35149008 3618.77 C T . 1/1 101 SYNONYMOUS_CODING LOW SILENT 0.97744 0.97740 0.02611 None None None None None None None
View mm170241ct 15 rs17237242
dbSNP
35174718 2098.77 G A . 0/1 142 SYNONYMOUS_CODING LOW SILENT 0.01438 0.01438 0.01338 None None None None None None None

ARHGAP11A

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 rs61733063
dbSNP
32925274 3336.77 G A . 0/1 244 SYNONYMOUS_CODING LOW SILENT 0.02157 0.02157 0.02000 None None None None None None None
View mm170241ct 15 rs181899708
dbSNP
32921956 441.77 G A . 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.02137 0.02137 0.01707 None None None None None None None
View mm170241ct 15 rs28754599
dbSNP
32929908 3793.77 C T . 0/1 249 SYNONYMOUS_CODING LOW SILENT 0.02835 0.02835 0.02777 None None None None None None None

ARID3B

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 rs574173186,rs770169890
dbSNP
74836289 350.73 T TCAG . 0/1 24 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE 0.00499 0.00499 None None None None None None None

ARNT2

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 rs79914316
dbSNP
80873642 1434.77 C G . 0/1 102 SYNONYMOUS_CODING LOW SILENT 0.08886 0.08886 0.04329 None None None None None None None

ARRDC4

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 rs4965046
dbSNP
98504100 581.77 G C . 1/1 18 SYNONYMOUS_CODING LOW SILENT 0.76238 0.76240 0.23067 None None None None None None None
View mm170241ct 15 rs61747226
dbSNP
98512431 1437.77 C T . 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01577 0.01577 0.03203 0.01 1.00 None None None None None None None
View mm170241ct 15 rs12101554
dbSNP
98504326 331.77 A G . 1/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76218 0.76220 0.26056 0.32 0.00 None None None None None None None
View mm170241ct 15 rs112100339
dbSNP
98504322 350.77 C T . 1/1 10 SYNONYMOUS_CODING LOW SILENT 0.16873 0.16870 None None None None None None None

ATP10A

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 rs17116056
dbSNP
25969090 1273.77 G T . 0/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08427 0.08427 0.11410 0.01 0.97 None None None None None None None
View mm170241ct 15 rs2076744
dbSNP
25926179 1180.77 C T . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28215 0.28210 0.24735 0.06 0.00 None None None None None None None
View mm170241ct 15 rs2076743
dbSNP
25926186 1895.77 G A . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.67792 0.67790 0.31993 None None None None None None None
View mm170241ct 15 rs1047700
dbSNP
25924539 270.77 T C . 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.26637 0.26640 0.22836 None None None None None None None
View mm170241ct 15 rs3816800
dbSNP
25925094 214.77 C G . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44609 0.44610 0.49047 0.92 0.00 None None None None None None None
View mm170241ct 15 rs10873607
dbSNP
25961964 1661.77 A G . 1/1 51 SYNONYMOUS_CODING LOW SILENT 0.99221 0.99220 0.00600 None None None None None None None
View mm170241ct 15 rs2066703
dbSNP
25962058 282.77 G A . 0/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06470 0.06470 0.09127 0.01 0.90 None None None None None None None
View mm170241ct 15 rs75541743
dbSNP
25981223 450.77 C G . 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.00120 0.01178 0.02015 None None None None None None None

ATP8B4

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 rs4774549
dbSNP
50152583 1810.77 G T . 1/1 51 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None

BAHD1

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 rs3803357
dbSNP
40751555 2165.77 C A . 1/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67572 0.67570 0.41450 0.01 0.01 None None None None None None None

BBS4

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 rs12914333
dbSNP
73023937 4903.77 T C . 1/1 150 SYNONYMOUS_CODING LOW SILENT 0.96046 0.96050 0.04396 None None None None None None None

BCL2A1

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 rs1138358
dbSNP
80263345 6549.77 A C . 1/1 187 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45887 0.45890 0.36291 1.00 0.00 None None None None None None None