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
RS1432815882 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS143282164 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1432822705 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS143282422 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS143282787 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS143282840 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS143283097 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS143283146 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Inborn genetic diseases
RS143283367 DVL1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 2
RS1432841878 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1432850828 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1432861552 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Familial isolated arrhythmogenic right ventricular dysplasia
RS1432866316 DLAT Health Risk Likely pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS143286960 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS143287019 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS143287549 SEC24C Health Risk Conflicting classifications of pathogenicity —
RS143287692 GHR Health Risk Conflicting classifications of pathogenicity Laron-type isolated somatotropin defect, Inborn genetic diseases
RS143288405 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, DSG4-related disorder
RS143288748 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1432889079 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS143290224 ARHGEF10 Health Risk Conflicting classifications of pathogenicity Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS1432916221 COL7A1 Health Risk Likely pathogenic —
RS1432916745 STRC Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS143291739 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS143291877 MAX Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Pheochromocytoma
RS1432921892 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS143292359 APOA5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1432925039 INTS1 Health Risk Pathogenic —
RS1432929984 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS143293179 SPTB Health Risk Conflicting classifications of pathogenicity —
RS143293426 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS143293913 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, TTC19-related disorder
RS143294623 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS143295106 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS143295587 VPS13B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cohen syndrome
RS143295869 GABRG2 Health Risk Conflicting classifications of pathogenicity EPILEPSY, CHILDHOOD ABSENCE
RS143298463 MYO5A Health Risk Conflicting classifications of pathogenicity Cervical cancer, Colorectal cancer
RS1432988639 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS143299210 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS143299941 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143300460 BCHE Health Risk Conflicting classifications of pathogenicity Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS143301088 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS143301610 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS143301836 APOB Health Risk Likely pathogenic Hypobetalipoproteinemia, Familial hypobetalipoproteinemia 1
RS143302176 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS1433023728 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1433028646 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1433029121 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS143303575 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, Familial Autism Spectrum Disorder
RS143303736 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS143304473 ATP2B2 Health Risk Conflicting classifications of pathogenicity —
RS143304751 FLVCR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1433050149 CUX2 Health Risk Conflicting classifications of pathogenicity —
RS1433060674 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1433060710 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS143306360 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS1433065763 COL4A4 Health Risk Likely pathogenic Alport syndrome, Autosomal recessive Alport syndrome
RS143306820 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1433071073 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS143307229 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS143307341 USP36 Health Risk Conflicting classifications of pathogenicity —
RS1433104741 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS143310707 TRAIP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143311349 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS1433117170 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1433120962 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS143312232 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS1433125500 NPR3 Health Risk Likely pathogenic Boudin-Mortier syndrome, Boudin-Mortier syndrome
RS143312683 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS143313688 CTSF Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 13, Inborn genetic diseases
RS1433146066 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1433157966 CCDC88A Health Risk Pathogenic —
RS143315827 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143316368 KIF7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acrocallosal syndrome
RS143316414 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS143316827 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1433170500 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1433172197 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1433173706 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1433176317 AGBL5 Health Risk Pathogenic —
RS143318339 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Hepatoblastoma
RS143318498 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1433188091 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS143318841 MARVELD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143319002 KCNJ8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS143319761 DMXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143319805 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Abortive cerebellar ataxia
RS143320460 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1433205059 PKLR Health Risk Pathogenic/Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS143321447 CPA6 Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 5, Febrile seizures
RS143321584 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS1433216677 CNTNAP2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS143322256 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS143323128 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Inborn genetic diseases
RS143323346 ALOXE3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143324027 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1433241638 COL11A2 Health Risk Pathogenic —
RS1433248622 ASPM Health Risk Likely pathogenic —
RS1433259474 CRELD1 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect, susceptibility to
RS143325951 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
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