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
RS369922919 ABCA4 Health Risk Pathogenic —
RS369923535 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS369923774 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS369924229 ADA2 Health Risk Pathogenic/Likely pathogenic Deficiency of adenosine deaminase 2, Sneddon syndrome
RS369924450 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS369925168 EEF2 Health Risk Conflicting classifications of pathogenicity —
RS369925361 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Marshall syndrome
RS369925503 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS369925690 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS369925943 TRMU Health Risk Conflicting classifications of pathogenicity —
RS369925993 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS369928148 MBTPS1 Health Risk Conflicting classifications of pathogenicity —
RS369930119 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS369930361 DNAH9 Health Risk Likely pathogenic DNAH9-related disorder, Ciliary dyskinesia
RS369930675 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS369930821 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Intellectual disability
RS369931526 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Gray platelet syndrome
RS369931782 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS369932282 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS369932305 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS369933152 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369933531 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS369933664 ALAD Health Risk Conflicting classifications of pathogenicity Porphobilinogen synthase deficiency, Porphobilinogen synthase deficiency
RS369935020 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Retinal dystrophy
RS369935287 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS369935445 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS369935650 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS369936231 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS369937337 PCARE Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 54
RS369937589 SERPINH1 Health Risk Conflicting classifications of pathogenicity —
RS369937649 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS369937650 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS369939552 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS369940136 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS369941201 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS369941408 STUB1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS369941827 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS369942106 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS369942555 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369943481 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS369943756 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369944396 PSAT1 Health Risk Conflicting classifications of pathogenicity Neu-Laxova syndrome 2, PSAT deficiency
RS369946755 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369946779 RAD51D Health Risk Pathogenic Breast-ovarian cancer, familial
RS369946986 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS369947231 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS369947439 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369947678 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, Amyotrophic lateral sclerosis
RS369947687 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS369947899 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS369948107 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS369949055 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
RS369950120 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS369950284 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS369950711 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS369951364 NAXD Health Risk Conflicting classifications of pathogenicity —
RS369951498 CPLANE1 Health Risk Conflicting classifications of pathogenicity —
RS369951554 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, SETD2-related disorder
RS369952232 TOM1 Health Risk Conflicting classifications of pathogenicity —
RS369953134 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS369953763 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone methyl oxidase type II deficiency, Hypoaldosteronism
RS369954495 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369954815 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Collagen 6-related myopathy
RS369955835 SLC35C1 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency type II, Leukocyte adhesion deficiency type II
RS369956166 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS369956511 RPL15 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 12, RPL15-related disorder
RS369957092 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS369957508 SPG21 Health Risk Pathogenic/Likely pathogenic Mast syndrome, Mast syndrome
RS369957704 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS369957746 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS369958726 TBC1D24 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS369958857 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS369959066 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS369960027 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369960115 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases
RS369960390 CBLIF Health Risk Conflicting classifications of pathogenicity Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS369960952 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
RS369961557 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS369961682 NDUFS8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS369961779 ERCC8 Health Risk Pathogenic —
RS369961807 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS369965266 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS369965539 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS369966011 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS369966222 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS369966295 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS369966550 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS369966669 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS369967804 GORAB Health Risk Pathogenic/Likely pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS369968343 PTCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369968997 HOMER2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369969697 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS369969903 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS369969967 MYO7A Health Risk Conflicting classifications of pathogenicity MYO7A-related disorder, MYO7A-related disorder
RS369970075 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS369970893 VWF Health Risk Conflicting classifications of pathogenicity Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS369970969 XRCC4 Health Risk Conflicting classifications of pathogenicity Short stature, microcephaly
RS369971694 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS369971712 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS369971838 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
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