SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS966425412 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS966429123 MAP2K1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS966434923 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS966437723 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS966550650 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BRCA1-related cancer predisposition
RS966575531 TTN Health Risk Likely pathogenic 6 conditions, 6 conditions
RS966601664 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS966621865 TECTA Health Risk Pathogenic Deafness, neurosensory autosomal recessive 21
RS966636123 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS966673017 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS966681982 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS966695764 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS966707448 NFIB Health Risk Pathogenic —
RS966793401 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS966817615 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS966888627 CEP152 Health Risk Pathogenic Seckel syndrome 5, Seckel syndrome 5
RS966900131 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS966918577 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS966964402 USH2A Health Risk Pathogenic —
RS966965226 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS967010243 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS967027857 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS967041673 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS967045461 DOCK6 Health Risk Pathogenic —
RS967071645 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS967101692 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS967105970 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS967111310 DARS1 Health Risk Likely pathogenic Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS967125703 NHLRC1 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS967208601 MBTPS1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, kondo-fu type
RS967210854 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS967275526 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS967339760 FREM2 Health Risk Pathogenic —
RS967339926 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS967342981 NSD1 Health Risk Conflicting classifications of pathogenicity NSD1-related disorder, NSD1-related disorder
RS967367446 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS967371351 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS967375653 ATN1 Health Risk Likely pathogenic Congenital hypotonia, epilepsy
RS967392340 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS967424883 TECTA Health Risk Conflicting classifications of pathogenicity —
RS967458408 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS967461896 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS967504449 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS967522314 OPHN1 Health Risk Conflicting classifications of pathogenicity —
RS967535162 SERPINF1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS967542291 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS967571395 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS967577305 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Inborn genetic diseases
RS967649457 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS967658213 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS967689898 GAMT Health Risk Pathogenic/Likely pathogenic Cerebral creatine deficiency syndrome, Inborn genetic diseases
RS967704371 NBAS Health Risk Conflicting classifications of pathogenicity NBAS-related disorder, NBAS-related disorder
RS967720287 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS967738491 PTPN23 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Brain atrophy
RS967738788 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS967744523 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Osteogenesis imperfecta
RS967765514 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS967779006 CEP250 Health Risk Conflicting classifications of pathogenicity —
RS967792092 TMEM67 Health Risk Pathogenic RHYNS syndrome, RHYNS syndrome
RS967810918 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS967814478 PIGL Health Risk Pathogenic/Likely pathogenic —
RS967826828 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Inborn genetic diseases
RS9678281 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS967833178 ASPM Health Risk Pathogenic —
RS967859778 TUBGCP6 Health Risk Pathogenic —
RS967867731 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, CHD2-related disorder
RS967875404 LCAT Health Risk Pathogenic LCAT deficiency, Cardiovascular phenotype
RS967889413 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS967905996 CHST14 Health Risk Pathogenic —
RS967937256 BMP4 Health Risk Conflicting classifications of pathogenicity Microphthalmia with brain and digit anomalies, Orofacial cleft 11
RS967959245 PXDN Health Risk Pathogenic Anterior segment dysgenesis, Anterior segment dysgenesis 7
RS967975662 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS967986192 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS967990798 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS968023665 TMEM216 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS968080956 ABCA3 Health Risk Likely pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS968086975 MUTYH;TOE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS968110677 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with or without anomalies of the brain
RS968119159 SNX10 Health Risk Pathogenic —
RS968172696 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS968221254 GLB1 Health Risk Pathogenic/Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS968230475 FLNA Health Risk Conflicting classifications of pathogenicity Wolff-Parkinson-White pattern, Frontometaphyseal dysplasia
RS968244943 CTCF Health Risk Conflicting classifications of pathogenicity CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS968248232 EPHB4 Health Risk Likely pathogenic —
RS968273154 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS968327265 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS968360568 TANC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with autistic features and language delay
RS968415184 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS968442498 TUBB1 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia, isolated
RS968447029 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS968474929 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS968499207 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Pigmented paravenous retinochoroidal atrophy
RS968524490 LIMS2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2W, Autosomal recessive limb-girdle muscular dystrophy type 2W
RS968544783 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS968625343 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS968628450 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS968662562 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS968676193 PLK4 Health Risk Pathogenic —
RS968692633 CEP290 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis, Joubert syndrome
RS968741434 ALG8 Health Risk Pathogenic/Likely pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
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