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
RS1461476360 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS146148365 LAMA1 Health Risk Conflicting classifications of pathogenicity LAMA1-related disorder, LAMA1-related disorder
RS1461489544 SI Health Risk Pathogenic —
RS146149484 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS1461496815 TFRC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146150325 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS146150499 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS146150511 RBP3 Health Risk Pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS1461515007 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1461515863 ETFA Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS146151670 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS146152324 CELSR2 Health Risk Conflicting classifications of pathogenicity —
RS146152405 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS146152769 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, Kostmann syndrome
RS146152956 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS146153109 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS146153666 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS146154014 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146154135 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1461558597 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS146156360 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS146156426 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS146156937 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS146157131 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1461573611 PAX3 Health Risk Pathogenic —
RS146157416 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS146158125 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, VPS13A-related disorder
RS146158332 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS146158333 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS146159244 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS146159479 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS146160029 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS1461609607 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS146161376 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS146161960 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS146162276 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS146162741 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146163970 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS1461640035 ST3GAL3 Health Risk Pathogenic —
RS146164310 PIGL Health Risk Conflicting classifications of pathogenicity CHIME syndrome, CHIME syndrome
RS146164600 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS146165014 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS1461650439 NEUROG3 Health Risk Pathogenic Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
RS146165279 RCBTB1 Health Risk Conflicting classifications of pathogenicity —
RS1461653218 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS1461653803 ASPM Health Risk Likely pathogenic —
RS146165518 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Age related macular degeneration 5
RS146166400 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1461664423 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1461665171 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic Ectopia lentis et pupillae, See cases
RS146166860 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1461669945 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS146167161 FLT4 Health Risk Conflicting classifications of pathogenicity Hereditary lymphedema type I, Hereditary lymphedema type I
RS146167605 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS146167897 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS146167974 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS146168040 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS1461686325 TTN Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS1461691786 CDHR1 Health Risk Pathogenic —
RS1461692571 RNPC3 Health Risk Pathogenic Isolated growth hormone deficiency, type 5
RS146169480 TEK Health Risk Conflicting classifications of pathogenicity Multiple cutaneous and mucosal venous malformations, Glaucoma 3
RS146170087 C19orf12 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 4, Dystonic disorder
RS146170505 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS146170855 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Optic atrophy
RS146171115 NUS1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IAA
RS146171151 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS146171339 PDE6B Health Risk Pathogenic —
RS146173891 IL2RB Health Risk Conflicting classifications of pathogenicity —
RS146175179 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS146175246 SLC6A9 Health Risk Conflicting classifications of pathogenicity Atypical glycine encephalopathy, Atypical glycine encephalopathy
RS146175329 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, DNAAF11-related disorder
RS146175373 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146175391 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1461754052 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS146175509 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 8
RS146175548 MSTO1 Health Risk Conflicting classifications of pathogenicity —
RS146175795 GCKR Health Risk Conflicting classifications of pathogenicity FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5, Hypertriglyceridemia
RS146175803 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 21
RS146175905 COL5A2 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Ehlers-Danlos syndrome
RS146176004 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1461764618 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS146176718 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS146177203 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, Liddle syndrome 3
RS1461776340 AMH Health Risk Pathogenic —
RS146178619 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS146178681 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS146179135 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS146179360 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS146180064 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS146180208 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS1461803502 NAGA Health Risk Pathogenic Alpha-N-acetylgalactosaminidase deficiency type 1, Alpha-N-acetylgalactosaminidase deficiency type 1
RS146180669 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS146180696 FERMT1 Health Risk Pathogenic Kindler syndrome, FERMT1-related disorder
RS146181116 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS146181245 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS146181477 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS146181686 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS1461832435 TNFAIP3 Health Risk Likely pathogenic Autoinflammatory syndrome, familial
RS146184921 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS146185523 PPFIBP1 Health Risk Pathogenic Microcephaly, Severe intellectual disability
« Prev 1 ... 643 644 645 646 647 648 649 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →