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
RS1173478186 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1173479131 STRA6 Health Risk Likely pathogenic —
RS1173482035 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS1173483373 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1173494063 CUL7 Health Risk Likely pathogenic 3-M syndrome, 3-M syndrome
RS1173495538 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS117350233 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, ATP2A1-related disorder
RS1173504533 BBS12 Health Risk Pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS1173511942 LRP2 Health Risk Pathogenic —
RS1173514495 LAS1L Health Risk Pathogenic Wilson-Turner syndrome, Wilson-Turner syndrome
RS1173518955 COL1A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1173523308 ATR Health Risk Pathogenic —
RS1173532574 CHRNB1 Health Risk Conflicting classifications of pathogenicity CHRNB1-related disorder, Congenital myasthenic syndrome 2A
RS117356004 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1173575355 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1173576141 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1173578471 GABRA1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS117358479 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1173590589 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1173594490 GYG1 Health Risk Likely pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS1173600555 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1173602413 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS117360770 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1173610818 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrin deficiency
RS1173617248 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1173623580 ATP7B Health Risk Conflicting classifications of pathogenicity —
RS1173631586 CEP250 Health Risk Pathogenic —
RS1173649955 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Inborn genetic diseases
RS1173663404 FANCL Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS1173681603 IGF1R Health Risk Pathogenic/Likely pathogenic Intellectual disability, Growth delay due to insulin-like growth factor I resistance
RS1173685095 COL4A3;MFF-DT Health Risk Likely pathogenic —
RS1173704265 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS117370446 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4
RS1173705310 RLBP1 Health Risk Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy, Retinitis pigmentosa
RS1173707321 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1173716957 HHAT Health Risk Pathogenic Chondrodysplasia-pseudohermaphroditism syndrome, Chondrodysplasia-pseudohermaphroditism syndrome
RS1173722715 ABCA12 Health Risk Pathogenic —
RS1173733121 ETFB Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1173748968 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1173771882 AEBP1 Health Risk Pathogenic —
RS1173779851 OTOGL Health Risk Pathogenic —
RS1173818227 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS117382379 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Inborn genetic diseases
RS1173826571 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1173829042 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1173833392 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1173853484 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1B
RS117385606 GJB3 Health Risk Conflicting classifications of pathogenicity Deafness, digenic
RS1173889040 IPO8 Health Risk Pathogenic VISS syndrome, VISS syndrome
RS1173899198 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS117390152 DCHS1 Health Risk Conflicting classifications of pathogenicity DCHS1-related disorder, DCHS1-related disorder
RS117390537 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS1173940446 SDHA Health Risk Pathogenic/Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1173941971 TNFAIP3 Health Risk Pathogenic —
RS1173945551 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS11739468 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS117394753 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS1173948061 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS11739510 AP3B1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS117400534 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS117400594 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS1174006665 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1174011798 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1174023229 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1174027832 VPS33B Health Risk Pathogenic —
RS1174029281 BEST1 Health Risk Pathogenic —
RS1174029388 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1174034398 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1174034883 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1174042673 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1174052172 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia 20, Primary ciliary dyskinesia 20
RS1174060268 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1174065588 DRC4 Health Risk Pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS1174079177 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1174104045 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS117411391 OTOGL Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS1174120641 PDE6B Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1174121102 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1B
RS1174122105 ABCA12 Health Risk Pathogenic —
RS1174145893 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS117419007 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS1174193938 RP1 Health Risk Likely pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa
RS1174222059 CNGA1 Health Risk Pathogenic —
RS1174225838 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS117422805 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS1174228917 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1174232828 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS117423374 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, Inflammatory bowel disease 28
RS117423733 POGLUT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1174255706 VRK1 Health Risk Pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS1174260635 ABCB11 Health Risk Conflicting classifications of pathogenicity —
RS1174268388 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1174270999 BRCA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1174303167 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1174316105 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1174331239 MYO18B Health Risk Pathogenic —
RS1174332682 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS117433399 LAMA1 Health Risk Conflicting classifications of pathogenicity LAMA1-related disorder, LAMA1-related disorder
RS1174344987 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1174348338 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
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