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
RS765217736 USH2A Health Risk Likely pathogenic —
RS765219004 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS765219776 ADA2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Sneddon syndrome
RS765221332 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS765223725 NPAT Health Risk Conflicting classifications of pathogenicity —
RS765224300 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765224364 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS765224443 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS765227211 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS765227276 TUT1 Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS765227366 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS765227931 KIAA0586 Health Risk Likely pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS765230559 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS765230689 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS765231294 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS765231668 COL2A1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS765231758 MME Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS765232270 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS765232439 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS765232909 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS765233016 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS765233032 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS765233946 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS765235179 TTI2 Health Risk Pathogenic Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome, Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
RS765235194 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS765235486 KCTD7 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS765235707 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS765235945 OCA2 Health Risk Pathogenic OCA2-related disorder, OCA2-related disorder
RS765237563 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS765237801 PCLO Health Risk Pathogenic —
RS765238394 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS765239220 SPTBN1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental delay
RS765239404 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765240540 SLC12A3 Health Risk Conflicting classifications of pathogenicity —
RS765240700 ARL13B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 8, Joubert syndrome 8
RS765241115 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS765242131 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS765243124 COL17A1 Health Risk Pathogenic COL17A1-related disorder, Epithelial recurrent erosion dystrophy
RS765244598 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS765245807 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS765246704 SLC10A1 Health Risk Conflicting classifications of pathogenicity SLC10A1-related disorder, Hypercholanemia
RS765246909 B3GAT3 Health Risk Conflicting classifications of pathogenicity Larsen-like syndrome, B3GAT3 type
RS765247025 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS765247380 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS765248215 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS765249238 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS765250980 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Orofaciodigital syndrome type 6
RS765251030 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Inborn genetic diseases
RS765251347 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS765251445 PNPLA8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765251991 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS765253165 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS765254190 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS765255206 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS765255437 SAG Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS765256075 CCDC88C Health Risk Pathogenic —
RS765256758 CLDN16 Health Risk Likely pathogenic Primary hypomagnesemia, Primary hypomagnesemia
RS765257420 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS765257439 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS765257706 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS765257726 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS765257753 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS765257824 PIEZO1 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS765257989 MYO1F Health Risk Conflicting classifications of pathogenicity —
RS765258483 KAT6A Health Risk Conflicting classifications of pathogenicity —
RS765258547 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS765259371 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS765259892 KIF1B Health Risk Conflicting classifications of pathogenicity —
RS765259917 TAP2 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, Inborn genetic diseases
RS765261158 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS765262083 ANO5 Health Risk Pathogenic —
RS765263589 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS765263617 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS765263670 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS765263671 NPHP1 Health Risk Pathogenic Nephronophthisis, Joubert syndrome with renal defect
RS765264117 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS765264494 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS765265404 ACTB Health Risk Pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS765266179 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS765266988 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS765267560 FLNB Health Risk Conflicting classifications of pathogenicity —
RS765268971 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS765269619 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS765269946 GLE1 Health Risk Likely pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal arthrogryposis-anterior horn cell disease syndrome
RS765271127 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS765271720 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS765273768 TCOF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ehlers-Danlos syndrome
RS765273968 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS765274194 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS765274398 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS765274435 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS765274871 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS765274952 LRP6 Health Risk Pathogenic —
RS765275156 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS765275884 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS765276365 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS765276419 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS765276422 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS765276497 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS765277254 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
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