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
RS767453033 NFASC Health Risk Pathogenic Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
RS767453182 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS767453829 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS767454205 PTPN23 Health Risk Pathogenic —
RS767454740 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS767454980 HNRNPK Health Risk Pathogenic —
RS767454994 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Inborn genetic diseases
RS767455462 DPH2 Health Risk Conflicting classifications of pathogenicity Short stature, Global developmental delay
RS767455902 PLCE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephrotic syndrome
RS767455904 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS767457050 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 6 conditions
RS767457600 AGMO Health Risk Likely pathogenic AGMO-related Neurodevelopmental disorder, AGMO-related Neurodevelopmental disorder
RS767458044 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS767458386 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS767459304 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS767459349 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS767460503 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS767460655 DNAAF5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS767460850 GABRA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 78
RS767461697 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS767461889 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS767462752 PNPLA1 Health Risk Likely pathogenic —
RS767464491 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS767464690 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS767465132 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767465603 WDFY3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS767469374 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS767469432 NDUFS7 Health Risk Conflicting classifications of pathogenicity —
RS767469658 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS767470504 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS767471467 PRPH2 Health Risk Conflicting classifications of pathogenicity Patterned dystrophy of the retinal pigment epithelium, PRPH2-related disorder
RS767472181 TRRAP Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 75
RS767473403 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS767474960 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS767474985 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS767475362 CSF1R Health Risk Likely pathogenic Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS767477168 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS767477438 F5 Health Risk Pathogenic/Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS767477904 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS767478543 RPE65 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, RPE65-related recessive retinopathy
RS767479112 OTOF Health Risk Pathogenic —
RS767479170 RET Health Risk Conflicting classifications of pathogenicity Appendicitis, Hereditary cancer-predisposing syndrome
RS767479331 ANO5 Health Risk Conflicting classifications of pathogenicity ANO5-Related Muscle Diseases, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS767479473 TOE1 Health Risk Pathogenic —
RS767480544 CYP27B1 Health Risk Pathogenic/Likely pathogenic Vitamin D-dependent rickets, type 1
RS767480784 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS767481076 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, RAB27A-related disorder
RS767481770 WDPCP Health Risk Likely pathogenic Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS767482247 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS767484358 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS767489236 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS767489857 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS767492080 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS767492134 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS767492436 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS767493706 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS767494597 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS767494615 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS767495365 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS767496065 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767496764 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS767497080 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS767497738 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS767497870 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS767497964 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767497993 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Inborn genetic diseases
RS767498123 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS767498196 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Cardiovascular phenotype
RS767499336 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS767499454 PDSS1 Health Risk Likely pathogenic Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS767500007 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS767500744 MID1 Health Risk Conflicting classifications of pathogenicity X-linked Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome
RS767500770 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS767501069 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS767501966 USH2A Health Risk Pathogenic —
RS767502292 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS767502632 CABP4 Health Risk Conflicting classifications of pathogenicity —
RS767503038 CHRNG Health Risk Pathogenic Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS767503319 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency
RS767503360 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS767503380 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS767504037 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS767505004 TSEN54 Health Risk Pathogenic —
RS76750525 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS767507908 RAPSN Health Risk Likely pathogenic Congenital myasthenic syndrome, Fetal akinesia deformation sequence 1
RS767508005 SLC24A1 Health Risk Likely pathogenic Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS767508472 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS767509386 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS767509745 GPR179 Health Risk Pathogenic —
RS767510451 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS767511678 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS767513098 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS767513261 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS767516148 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS767516734 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS767516791 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS767517186 COL6A3 Health Risk Pathogenic Dystonia 27, Bethlem myopathy 1A
RS767517922 CPT1C Health Risk Pathogenic Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS767518359 OTOA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767518464 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
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