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
RS755081350 MACF1 Health Risk Likely pathogenic Short stature, Short stature
RS755081860 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS755082450 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS755082537 PC Health Risk Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS755082861 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS755083879 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
RS755084205 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS755084885 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS755085498 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS755085531 RNF168 Health Risk Pathogenic —
RS755086950 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755087362 TGM5 Health Risk Likely pathogenic Peeling skin syndrome 1, Peeling skin syndrome 1
RS755087869 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS755088410 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS755088564 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Self-limited epilepsy with centrotemporal spikes
RS755089224 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS755089331 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS755090824 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS755090999 GCM2 Health Risk Conflicting classifications of pathogenicity Familial hypoparathyroidism, GCM2-related disorder
RS755091270 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS755091615 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS755092516 FKTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Walker-Warburg congenital muscular dystrophy
RS755092627 GHRHR Health Risk Pathogenic —
RS755092814 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS755094018 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS755094572 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS755094682 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 3
RS755095253 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS755095881 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS755097302 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS755097467 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 16
RS755098861 ZBTB20 Health Risk Pathogenic —
RS755099137 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS755099305 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS755099565 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS755099716 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS755100317 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS755101379 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS755102336 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS755103128 CEP78 Health Risk Pathogenic —
RS755103579 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755103680 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS755103812 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS755103814 KDM6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755104393 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS755104973 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS755105138 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS755105367 PMPCB Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 6, Multiple mitochondrial dysfunctions syndrome 6
RS755106004 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS755107067 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS755107410 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS755107633 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS755108467 SERPING1 Health Risk Pathogenic/Likely pathogenic —
RS755109848 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Alport syndrome
RS755110383 F10 Health Risk Likely pathogenic Hereditary factor X deficiency disease, Hereditary factor X deficiency disease
RS755110736 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS755112036 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS755113185 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS755113500 EPCAM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS755117226 FGA Health Risk Pathogenic Congenital afibrinogenemia, Familial visceral amyloidosis
RS755117644 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS755117847 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS755119833 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS755119869 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS755120064 ATAD3A Health Risk Likely pathogenic —
RS755122338 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755122577 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS755122704 NARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS75512464 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, Orthostatic hypotension 1
RS755124649 CD36 Health Risk Conflicting classifications of pathogenicity CD36-related disorder, CD36-related disorder
RS755124691 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS755124887 SACS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS755125202 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, Glycogen storage disease type X
RS755125969 VPS13B Health Risk Pathogenic Cohen syndrome, Inborn genetic diseases
RS755126393 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS755126464 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS755126540 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS755127868 SETD1A Health Risk Pathogenic Neurodevelopmental disorder with speech impairment and dysmorphic facies, Epilepsy
RS755127902 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS755128532 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS755128667 RNF43 Health Risk Likely pathogenic Sessile serrated polyposis cancer syndrome, RNF43-related disorder
RS755129205 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS755130575 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, NRXN1-related disorder
RS755131121 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Inborn genetic diseases
RS755131489 SCYL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755132744 NPHS1 Health Risk Conflicting classifications of pathogenicity NPHS1-related disorder, Finnish congenital nephrotic syndrome
RS755132837 POLE2 Health Risk Conflicting classifications of pathogenicity —
RS755133567 ATP8A2 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia, intellectual disability
RS755134019 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS755134660 CSF1R Health Risk Conflicting classifications of pathogenicity —
RS755135545 SLC7A9 Health Risk Conflicting classifications of pathogenicity —
RS755135552 CLCN7 Health Risk Pathogenic —
RS755135568 DNAAF4 Health Risk Pathogenic —
RS755135715 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755135948 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS755136231 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS755137259 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS755137786 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS755138368 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS755138493 ACTL6B Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 76
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