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
RS760362633 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760363054 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases
RS760363108 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS760363252 RECQL4 Health Risk Pathogenic/Likely pathogenic Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome
RS760364037 SBDS Health Risk Conflicting classifications of pathogenicity Shwachman-Diamond syndrome 1, Melanoma
RS760364824 NDUFAF5 Health Risk Likely pathogenic —
RS760364969 FANCI Health Risk Likely pathogenic FANCI-related disorder, Fanconi anemia complementation group I
RS760368705 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, KIF1B-related disorder
RS760370189 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS760371606 DENND5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760372711 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS760372994 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS760373107 USP9X Health Risk Conflicting classifications of pathogenicity USP9X-related disorder, USP9X-related disorder
RS760373259 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 45
RS760373690 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS760374212 PTPN11 Health Risk Conflicting classifications of pathogenicity —
RS760375583 EYS Health Risk Pathogenic —
RS760375604 MFN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS760375622 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS760376139 NOTCH1 Health Risk Conflicting classifications of pathogenicity Pulmonary arterial hypertension, Adams-Oliver syndrome 5
RS760376992 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS760377093 HAX1 Health Risk Conflicting classifications of pathogenicity Kostmann syndrome, Kostmann syndrome
RS760377475 FAT4 Health Risk Conflicting classifications of pathogenicity —
RS760378316 KPNA7 Health Risk Conflicting classifications of pathogenicity Mild intellectual disability, Mild intellectual disability
RS760379293 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS760379846 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, PRF1-related disorder
RS760380736 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS760381933 CPLANE1 Health Risk Pathogenic —
RS760382778 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS760382908 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS760383043 RBM8A Health Risk Pathogenic Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
RS760383112 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS760383433 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760383931 KIZ Health Risk Conflicting classifications of pathogenicity —
RS760383946 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS760384315 CSRP3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS760384855 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS760386662 DHTKD1 Health Risk Pathogenic/Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, Charcot-Marie-Tooth disease axonal type 2Q
RS760387652 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760387660 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS76038845 TELO2 Health Risk Likely pathogenic —
RS760388849 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS760389988 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS760390019 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS760390497 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS760391023 PSAP Health Risk Likely pathogenic Combined PSAP deficiency, Combined PSAP deficiency
RS760391254 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS760391381 NDUFS4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS760391436 SLC38A8 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Leber congenital amaurosis
RS760391688 TRPM1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS760395277 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS760395465 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS760395614 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS760395633 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS760397052 COCH Health Risk Conflicting classifications of pathogenicity —
RS760398697 TPK1 Health Risk Pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS760398733 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS760398912 FAT4 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Hennekam lymphangiectasia-lymphedema syndrome 2
RS760399253 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS760400112 TSHR Health Risk Pathogenic —
RS760400353 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760401552 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Cardiovascular phenotype
RS760401643 SLC14A1 Health Risk Likely pathogenic SLC14A1-related disorder, SLC14A1-related disorder
RS760403428 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS760403492 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS760404534 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS760404694 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS760404861 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS760404952 LTBP2 Health Risk Pathogenic —
RS760405772 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS760406178 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS760407609 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS760407686 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS760408686 PNLIP Health Risk Pathogenic —
RS760408746 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS760408755 POLR3A Health Risk Pathogenic —
RS760409547 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS760409743 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS760410085 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS760410794 PCNT Health Risk Pathogenic —
RS760412099 DOCK6 Health Risk Pathogenic —
RS760412752 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS760412982 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS760413281 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS760413427 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS760413481 LIPA Health Risk Pathogenic Wolman disease, Wolman disease
RS760413505 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS760413721 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Inborn genetic diseases
RS760415289 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS760415988 MOCS2 Health Risk Pathogenic —
RS760416360 TAOK2 Health Risk Conflicting classifications of pathogenicity —
RS760417941 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, Homocystinuria
RS760418372 TRPM1 Health Risk Pathogenic —
RS760419335 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS760419507 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS760419678 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Cardiovascular phenotype
RS760420191 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS760420806 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS760421834 TERF2IP Health Risk Conflicting classifications of pathogenicity —
RS760423461 PCNT Health Risk Likely pathogenic PCNT-related disorder, PCNT-related disorder
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