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
RS375189210 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Iron-refractory iron deficiency anemia
RS375189396 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS375190395 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS375191740 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS375191868 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Gastric cancer
RS375194057 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375195621 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS375195936 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS375198512 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Inborn genetic diseases
RS375198596 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375198950 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS375199214 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hearing impairment
RS375199386 MYO15A Health Risk Conflicting classifications of pathogenicity MYO15A-related disorder, Inborn genetic diseases
RS375199636 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS375199947 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS375200447 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS375200566 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Inborn genetic diseases
RS375200637 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS375200875 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS375201229 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS375202101 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375204371 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS375204972 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS375205018 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS375205158 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS375205991 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS375206873 GHRHR Health Risk Conflicting classifications of pathogenicity —
RS375207660 RBM10 Health Risk Pathogenic TARP syndrome, TARP syndrome
RS375208564 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS375209004 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X
RS375209098 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375209295 OPA1 Health Risk Conflicting classifications of pathogenicity OPA1-related disorder, OPA1-related disorder
RS375209383 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375209947 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS375210532 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS375211888 ALDH6A1 Health Risk Conflicting classifications of pathogenicity Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS375212414 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS375212459 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375213599 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS375213838 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS375213868 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS375214976 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS375215281 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, COLQ-related disorder
RS375215524 MTFMT Health Risk Likely pathogenic —
RS375215583 ASXL1 Health Risk Conflicting classifications of pathogenicity Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS375215655 PAGR1 Health Risk Conflicting classifications of pathogenicity lethal neurodevelopmental disorder, Neurodevelopmental disorder
RS375216188 LHX4 Health Risk Conflicting classifications of pathogenicity Short stature-pituitary and cerebellar defects-small sella turcica syndrome, LHX4-related disorder
RS375217032 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS375217280 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS375217284 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS375218091 RAPSN Health Risk Likely pathogenic Arthrogryposis multiplex congenita, Fetal akinesia deformation sequence 1
RS375218798 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375221757 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS375221786 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS375222168 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS375223745 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS375223901 USH2A Health Risk Conflicting classifications of pathogenicity —
RS375224787 SPINK5 Health Risk Pathogenic Netherton syndrome, Netherton syndrome
RS375225009 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS375225755 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS375225974 HDAC4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS375227932 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS375229257 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS375229316 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS375229869 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS375230548 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS375231416 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS375233428 WNT5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375233918 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, BNAR syndrome
RS375234125 ASNS Health Risk Conflicting classifications of pathogenicity Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS375234343 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS375234781 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, Microcytic anemia
RS375235184 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS375235470 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS375236875 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS375237454 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS375237762 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Inborn genetic diseases
RS375237841 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Lysosomal acid lipase deficiency
RS375238384 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS375238770 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS375239013 CHRNA2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 4, Autosomal dominant nocturnal frontal lobe epilepsy
RS375239471 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related disorder
RS375240261 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375241473 F8 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease
RS375242946 CYP11B2 Health Risk Conflicting classifications of pathogenicity Corticosterone 18-monooxygenase deficiency, Glucocorticoid-remediable aldosteronism
RS375243763 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS375244209 HSPB1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS375244468 VWA3B Health Risk Conflicting classifications of pathogenicity —
RS375244642 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS375244907 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS375244948 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS375246252 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS375247004 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS375247413 ABCA1 Health Risk Likely pathogenic Cardiovascular phenotype, Colorectal cancer
RS375251871 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, SMCHD1-related disorder
RS375252709 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375253473 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Autosomal recessive nonsyndromic hearing loss 2
RS375253675 CCN6 Health Risk Pathogenic —
RS375253690 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS375253942 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
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