SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1396334985 SPTB Health Risk Likely pathogenic SPTB-related disorder, SPTB-related disorder
RS139633545 LAMP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Danon disease
RS139633601 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
RS139633955 KCNQ1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 1, Long QT syndrome 1
RS1396340484 LRP5 Health Risk Pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS1396345163 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS139635308 CSF1R Health Risk Conflicting classifications of pathogenicity Brain abnormalities, neurodegeneration
RS139635339 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS139635469 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS139636269 KATNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139636676 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1396377821 CYP11B2 Health Risk Pathogenic/Likely pathogenic CYP11B2-related disorder, Corticosterone 18-monooxygenase deficiency
RS1396379503 SHANK3 Health Risk Pathogenic/Likely pathogenic Phelan-McDermid syndrome, Inborn genetic diseases
RS139638161 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS139638257 PDE6C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139638488 BMP8B;OXCT2 Health Risk Conflicting classifications of pathogenicity —
RS139638496 SPATA31D1 Health Risk Conflicting classifications of pathogenicity —
RS1396386114 TYRP1 Health Risk Pathogenic —
RS1396390185 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS139639078 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1396400378 CCDC88C Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS139640247 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS139640415 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Intellectual disability
RS1396407521 CCL11 Health Risk risk factor Inherited susceptibility to asthma, Inherited susceptibility to asthma
RS139641675 APEX2 Health Risk Conflicting classifications of pathogenicity —
RS139641883 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis
RS139642328 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1396423880 COL4A4 Health Risk Pathogenic —
RS139642944 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS139643304 MNS1 Health Risk Likely pathogenic Heterotaxy, visceral
RS139643362 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS1396439708 PCNT Health Risk Likely pathogenic —
RS139644798 RARS1 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 9, Inborn genetic diseases
RS139645527 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS139646169 LMBR1 Health Risk Conflicting classifications of pathogenicity Polydactyly of a triphalangeal thumb, Inborn genetic diseases
RS139646620 CFAP52 Health Risk Conflicting classifications of pathogenicity Situs inversus, CFAP52-related disorder
RS139646715 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS139646807 ENTPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 64, Hereditary spastic paraplegia
RS1396471922 OBSL1 Health Risk Likely pathogenic 3M syndrome 2, 3M syndrome 2
RS139647347 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS1396473895 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Mucolipidosis type II
RS139647623 RDH5 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS1396476288 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS139647897 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS139648092 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Self-limited epilepsy with centrotemporal spikes
RS1396484162 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS139648899 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS139649449 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, CLCN7-related disorder
RS139649540 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS1396496270 NRAS Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS139649754 HSPD1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hypomyelinating leukodystrophy 4
RS139650842 NDUFV2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS139651403 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1L1-related disorder
RS139651937 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1396519956 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1396521687 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS139652451 PDE6C Health Risk Conflicting classifications of pathogenicity Cone dystrophy 4, Achromatopsia
RS139652783 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS139652960 PKD1 Health Risk Likely pathogenic —
RS139653847 TTC21B Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Nephronophthisis
RS139653980 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Tip-toe gait
RS139654544 ROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS139654844 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS139654946 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS139655160 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS139655526 VPS33B Health Risk Conflicting classifications of pathogenicity VPS33B-related disorder, VPS33B-related disorder
RS139655691 CTNNA1 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 2, CTNNA1-related disorder
RS139655790 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS1396561273 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139656817 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS139657057 TLE6 Health Risk Conflicting classifications of pathogenicity —
RS1396571187 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS139657121 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Seizure
RS139658279 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 10
RS139659129 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS1396595519 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS139659618 ARHGAP31 Health Risk Conflicting classifications of pathogenicity ARHGAP31-related disorder, Inborn genetic diseases
RS1396602090 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS139660235 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS139661019 LRP1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS139661242 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS1396625189 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1396633264 CEP63 Health Risk Likely pathogenic —
RS139663513 KIF1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic ataxia 2
RS139664153 MYO6 Health Risk Conflicting classifications of pathogenicity MYO6-related disorder, MYO6-related disorder
RS139664696 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-related disorder, FLNB-related disorder
RS1396652277 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS139665824 VPS13C Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS1396658541 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS139666355 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ALPK3-related disorder
RS139666795 MAP3K7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1396671238 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS139668142 FBN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Congenital contractural arachnodactyly
RS139668453 SEMA5A Health Risk Conflicting classifications of pathogenicity —
RS139668562 FOXD4 Health Risk Conflicting classifications of pathogenicity —
RS139668636 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, PCDH15-related disorder
RS1396689726 NEB Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS1396693199 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS139669564 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS139670073 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
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