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
RS758116997 CERKL Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS758119014 TYR Health Risk Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS758119168 OTX2 Health Risk Pathogenic Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS758120141 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS758120346 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS758120380 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS758120505 RUNX2 Health Risk Pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS758121289 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS758122659 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS758123382 SMARCD2 Health Risk Pathogenic/Likely pathogenic Specific granule deficiency 2, SMARCD2-related disorder
RS758123475 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS758124326 COL6A3 Health Risk Pathogenic —
RS758124360 SZT2 Health Risk Pathogenic —
RS758124618 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS758124873 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS758125212 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS758125356 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS758125762 HSPG2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS758125850 CRX Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Cone-rod dystrophy 2
RS758128091 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS758128094 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS758128209 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS758128368 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS758128446 PCNT Health Risk Pathogenic —
RS758128834 KCNJ1 Health Risk Likely pathogenic Bartter syndrome, Bartter syndrome
RS758129253 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS758131044 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS758131126 GNB4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases
RS758131874 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS758132052 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS758132730 RECQL Health Risk Conflicting classifications of pathogenicity —
RS758132799 GPI Health Risk Pathogenic/Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS758132842 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 3A (Zellweger), PEX12-related disorder
RS758133069 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS758134774 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS758134778 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Muscular dystrophy
RS758134921 CEP135 Health Risk Likely pathogenic —
RS758135569 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrullinemia, type II
RS758136052 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS758136826 PAX3 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS758137319 ETFB Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS758137485 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS758137643 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS758138124 FGFR1 Health Risk Conflicting classifications of pathogenicity Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS758140794 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS758142635 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758142728 TCAP Health Risk Pathogenic Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
RS758143691 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Amyloidosis
RS758143705 KIF2A Health Risk Conflicting classifications of pathogenicity —
RS758144859 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS758146135 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS758147167 MYH3 Health Risk Likely pathogenic —
RS758147741 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758147990 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS758150381 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS758150843 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758150853 ATP13A2 Health Risk Pathogenic Inborn genetic diseases, Kufor-Rakeb syndrome
RS758151170 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758151481 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, DNMT3A-related disorder
RS758152252 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS758153898 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS758154733 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS758155107 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS758155716 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS758156613 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS758157294 KNL1 Health Risk Likely pathogenic Microcephaly 4, primary
RS758158685 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS758158889 INTS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with cataracts
RS758158942 GRIA3 Health Risk Conflicting classifications of pathogenicity —
RS758159521 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS758159686 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS758161226 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS758163128 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS758163506 MAPK7 Health Risk Pathogenic Scoliosis, isolated
RS758166013 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS758166055 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS758166168 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Primary dilated cardiomyopathy
RS758166174 ABCA12 Health Risk Pathogenic —
RS758166864 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS758166890 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS758166967 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS758166991 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS758167759 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS758168827 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758169026 VCP Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS758169152 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Congenital myasthenic syndrome 17
RS758169489 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS758169847 USH1C Health Risk Pathogenic —
RS758169976 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS758170522 IQSEC1 Health Risk Likely pathogenic Intellectual developmental disorder with short stature and behavioral abnormalities, Intellectual developmental disorder with short stature and behavioral abnormalities
RS758173527 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS75817442 SMC3 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 3, Inborn genetic diseases
RS758175953 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS758176077 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS758176356 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, AFF4-related disorder
RS758179285 MEGF8 Health Risk Pathogenic MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS758180192 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS758180621 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758180890 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
RS758181047 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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