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
RS751589863 RDH12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 13
RS751589956 TULP1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Leber congenital amaurosis 15
RS751589999 ZNF142 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS751590073 ASL Health Risk Likely pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS751590336 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS751591418 ABCC8 Health Risk Pathogenic —
RS751591632 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS751591853 APC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751592419 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS751592819 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS751592993 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS751593187 B4GALNT1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS751594548 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS751598619 EXT2 Health Risk Pathogenic/Likely pathogenic Exostoses, multiple
RS751599201 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS751599203 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, BCKDHB-related disorder
RS751600209 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS751600310 MTHFS;ST20-MTHFS Health Risk Conflicting classifications of pathogenicity —
RS751600686 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS751600886 PHKG2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXc, PHKG2-related disorder
RS751600925 KCNV2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS751602407 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS751603525 SKIC3 Health Risk Pathogenic —
RS751603831 MOCS1 Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS751603969 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS751604155 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS751604696 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS751604761 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS751604858 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS751605791 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS751608665 CLCNKB Health Risk Conflicting classifications of pathogenicity Bartter disease type 3, Bartter disease type 4B
RS751609154 RD3 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 12, Leber congenital amaurosis 12
RS75160992 CYB5A Health Risk Conflicting classifications of pathogenicity —
RS751610164 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS751610198 CAD Health Risk Pathogenic Developmental and epileptic encephalopathy, 50
RS751610641 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Neurodevelopmental abnormality
RS751610886 DNAAF4 Health Risk Pathogenic/Likely pathogenic DNAAF4-related disorder, Primary ciliary dyskinesia 25
RS751612997 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS751613059 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS751613983 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS751615449 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, AKAP9-related disorder
RS751618728 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS751619487 RAB23 Health Risk Conflicting classifications of pathogenicity Carpenter syndrome, RAB23-related Carpenter syndrome
RS751621364 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS751621733 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS751622198 HFM1 Health Risk Pathogenic Premature ovarian failure 9, Premature ovarian failure 9
RS751622656 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS751623760 ERCC6 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS751624492 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS751625937 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS751625944 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS751627340 IRF2BPL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751627510 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS751628735 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS751628774 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS751628871 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS751629013 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS751629184 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 3, NPHP3-related Meckel-like syndrome
RS751629274 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751629543 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Autosomal recessive retinitis pigmentosa
RS751629644 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS75163090 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS751631188 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS751631278 NUBPL Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 21
RS751632633 PUS1 Health Risk Likely pathogenic Myopathy, lactic acidosis
RS751633537 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS751635016 ADA Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency
RS751635650 RP1 Health Risk Pathogenic Retinitis pigmentosa 1, Retinitis pigmentosa 1
RS751636782 CRELD1 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect, susceptibility to
RS751637699 COQ8A Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS751637843 SCN8A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS751637847 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS751638632 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS751638930 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS751639011 KIF11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751639773 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS751640004 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS751640052 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS751641438 COG5 Health Risk Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS751641518 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Drash syndrome
RS751641706 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751642419 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS751643248 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS751643938 OGDHL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Yoon-Bellen neurodevelopmental syndrome
RS751644763 NMNAT1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Cone-rod dystrophy
RS751646059 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS751646100 VPS13B Health Risk Pathogenic —
RS751646311 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS751646468 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS751647405 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Inborn genetic diseases
RS751648064 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS751649145 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS751649334 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS751650356 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS751650834 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751651742 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS751651780 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751651833 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS751653049 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS751653739 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
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