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
RS759326778 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS759327087 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS759327672 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS759329385 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS759330 BGLAP Health Risk association Nephrolithiasis, calcium oxalate
RS759330790 ARSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Chondrodysplasia punctata
RS759331139 RARS2 Health Risk Pathogenic/Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6
RS759331186 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS759331923 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS759332741 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759333796 PDXK Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS759336529 SLC12A3 Health Risk Pathogenic —
RS759337168 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS759337224 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS759337318 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS759338220 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759338401 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS759338755 C6 Health Risk Likely pathogenic —
RS759339012 NR2E3 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS759339072 NKX2-5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial septal defect 7
RS759339985 NLRP5 Health Risk Pathogenic/Likely pathogenic Inherited oocyte maturation defect, Oocyte/zygote/embryo maturation arrest 19
RS759341398 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS759344174 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS759344534 SOBP Health Risk Conflicting classifications of pathogenicity —
RS759347899 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS759347960 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS759348667 TRIM37 Health Risk Pathogenic —
RS759348679 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS759349379 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS759349569 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS759350161 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Seckel syndrome 1
RS759350468 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS759350875 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS759351686 FASLG Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS759351997 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS759353324 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS759353736 B4GALNT1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 26
RS759354804 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS759356342 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS759356936 PAX2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS759359491 RDH5 Health Risk Pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS759359754 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759359831 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS759359836 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS759360026 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS759360650 SERPINI1 Health Risk Conflicting classifications of pathogenicity Familial encephalopathy with neuroserpin inclusion bodies, Familial encephalopathy with neuroserpin inclusion bodies
RS759360751 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS759361904 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS759362569 POLR3F Health Risk Conflicting classifications of pathogenicity —
RS759363072 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS759363496 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS759365400 FAM161A Health Risk Pathogenic —
RS759365458 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS759365467 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS759365577 CDKN1C Health Risk Pathogenic/Likely pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS759366568 OTOF Health Risk Likely pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS759367270 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS759370186 TRPM1 Health Risk Pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS759370330 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS759370463 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS75937132 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS759372918 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS759373136 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS759373140 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759374475 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS759374919 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Polyps
RS759375404 PRMT9 Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS759376012 TRIM32 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, TRIM32-related disorder
RS759376422 FGFR1 Health Risk Conflicting classifications of pathogenicity 7 conditions, Hypogonadotropic hypogonadism 2 with or without anosmia
RS759376455 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Cardiovascular phenotype
RS759377639 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency
RS759377924 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Bartter syndrome
RS759378094 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS759378585 OPTN Health Risk Conflicting classifications of pathogenicity Primary open angle glaucoma, Amyotrophic lateral sclerosis type 12
RS759378757 TECPR2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS759378949 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, FANCM-related disorder
RS759379027 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS759379314 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS759380292 CNGB1 Health Risk Pathogenic —
RS759380419 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS759380437 DNMT3A Health Risk Likely pathogenic Acute myeloid leukemia, Tatton-Brown-Rahman overgrowth syndrome
RS759380520 PHIP Health Risk Pathogenic/Likely pathogenic Syndromic intellectual disability, Syndromic intellectual disability
RS759380758 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS759380807 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759381152 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759383268 TBX6 Health Risk Conflicting classifications of pathogenicity —
RS759383948 HSD3B2 Health Risk Pathogenic —
RS759384300 CYP11B2 Health Risk Pathogenic —
RS759384989 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS759388741 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS759388890 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS759389193 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS759390226 PI4K2A Health Risk Pathogenic Neurodevelopmental disorder with hyperkinetic movements, seizures
RS75939033 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Rod-cone dystrophy
RS759390416 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS759390822 RIN2 Health Risk Pathogenic RIN2 syndrome, RIN2 syndrome
RS759392396 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS759393540 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Hypertrophic cardiomyopathy
RS759393722 TRPV6 Health Risk Likely pathogenic Hyperparathyroidism, transient neonatal
RS759394379 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
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