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
RS533548757 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS533551639 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS533555352 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS533560027 ANKZF1 Health Risk Conflicting classifications of pathogenicity —
RS533565295 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS533567836 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS533568822 DTNA Health Risk Conflicting classifications of pathogenicity Meniere disease, Left ventricular noncompaction 1
RS533573408 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS533575514 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS533583323 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS533584507 PNPLA1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS533602128 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS533602337 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS533606326 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS533612423 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS533614940 POLG2 Health Risk Pathogenic —
RS533651991 LPIN1 Health Risk Pathogenic/Likely pathogenic Myoglobinuria, acute recurrent
RS533659013 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Intellectual developmental disorder
RS533659697 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS533667536 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS533671711 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Coffin-Siris syndrome
RS533676935 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS533696377 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas
RS533700989 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinal dystrophy
RS533701597 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS533704173 ALG8 Health Risk Likely pathogenic Autosomal dominant polycystic liver disease, ALG8 congenital disorder of glycosylation
RS533707792 DBT Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS533720034 TWNK Health Risk Likely pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS533729683 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS533752647 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Inborn genetic diseases
RS533755016 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS533755473 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS533757341 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS533757634 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS533761290 INTU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS533762549 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS533766104 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS533773105 LORICRIN Health Risk Conflicting classifications of pathogenicity —
RS533778042 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS533791946 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS533798702 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS533806629 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS533812435 KIF2A Health Risk Conflicting classifications of pathogenicity —
RS533814143 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS533820347 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, OTOG-related disorder
RS533830027 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Joubert syndrome
RS533830556 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS533833167 CFL2 Health Risk Pathogenic Nemaline myopathy 7, Nemaline myopathy 7
RS533837914 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS533854462 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS533882082 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS533884784 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS533885672 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS533896621 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Dyslipidemia
RS533902090 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS533903357 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS533910472 PIEZO1 Health Risk Conflicting classifications of pathogenicity Hydrops fetalis, Polyhydramnios
RS533916138 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS533917998 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS533923552 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS533933463 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS533935135 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS533940465 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS533942394 GCM2 Health Risk Likely pathogenic —
RS533944505 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS533954733 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS533957132 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS533959068 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS533959092 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS533959758 TGM1 Health Risk Pathogenic —
RS533967323 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS533967597 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS533979613 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS533995497 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS533997742 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS534003014 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Myopathy
RS534010648 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS534011584 TRIM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R
RS534013804 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS534014297 SERPINB7 Health Risk Pathogenic Palmoplantar keratoderma, Nagashima type
RS534031166 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS534033649 AUTS2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder due to AUTS2 deficiency, Inborn genetic diseases
RS534038231 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS534045685 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS534046290 NBEA Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without early-onset generalized epilepsy, Inborn genetic diseases
RS534048899 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS534052238 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS534053819 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS534065676 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS534067035 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS534094626 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS534095433 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS534102944 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
RS534103042 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS534111713 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS534113568 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS534116066 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS534127494 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS534132522 PDE6C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS534139966 WASHC5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ritscher-Schinzel syndrome 1
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