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
RS1893201715 DICER1 Health Risk Pathogenic —
RS189320299 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 1
RS1893203328 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS189320512 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1893206922 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893209726 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893210489 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893211484 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893214804 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893215622 DICER1 Health Risk Pathogenic —
RS1893219311 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893239532 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893250368 CEP152 Health Risk Pathogenic —
RS1893252120 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893253451 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189325962 MTMR14 Health Risk Conflicting classifications of pathogenicity —
RS189328202 TUB Health Risk Conflicting classifications of pathogenicity TUB-related disorder, TUB-related disorder
RS189334432 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS189339918 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189341276 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS189342249 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS189346095 CCDC22 Health Risk Conflicting classifications of pathogenicity —
RS1893478668 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1893496450 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189352647 PCLO Health Risk Conflicting classifications of pathogenicity —
RS189356042 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189356869 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS189358082 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Pigmentary retinal dystrophy
RS189359867 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS189360551 USP53 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS189360899 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS189362155 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS1893731693 RASGRP1 Health Risk Pathogenic —
RS189373768 YEATS2 Health Risk Conflicting classifications of pathogenicity —
RS189374343 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS1893759823 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893775878 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189380942 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS1893833599 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1893835509 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893837432 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Squamous cell carcinoma of the head and neck
RS189384185 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS1893849623 DUOX2 Health Risk Likely pathogenic —
RS1893856377 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1893939580 DUOX2 Health Risk Likely pathogenic —
RS189395222 CRB1 Health Risk Pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS1893958393 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1893959823 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1894017295 SPRED1 Health Risk Pathogenic/Likely pathogenic Legius syndrome, Legius syndrome
RS189402693 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS189402834 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1894040158 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1894049306 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1894051550 LYSET Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS189406424 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, EYS-related disorder
RS1894090980 DUOX2 Health Risk Pathogenic —
RS1894093770 DUOX2 Health Risk Pathogenic —
RS189409574 VWF Health Risk Conflicting classifications of pathogenicity —
RS189411873 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1894119538 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1894120957 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1894132373 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS189416175 TNXB Health Risk Conflicting classifications of pathogenicity TNXB-related disorder, Cardiovascular phenotype
RS189420137 DNAH7 Health Risk Conflicting classifications of pathogenicity DNAH7-related disorder, DNAH7-related disorder
RS1894219449 DUOX2 Health Risk Pathogenic —
RS1894220985 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1894227805 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS189424028 CYP7A1 Health Risk Conflicting classifications of pathogenicity —
RS189427175 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Inborn genetic diseases
RS1894288661 CEP152 Health Risk Pathogenic —
RS1894320928 DUOX2 Health Risk Likely pathogenic —
RS1894328064 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome 9
RS1894337954 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS1894350607 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS1894362961 DUOX2 Health Risk Likely pathogenic —
RS189436499 MTOR Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS189437004 GRIA3 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 94, Syndromic X-linked intellectual disability 94
RS1894381872 REC114 Health Risk Pathogenic Oocyte maturation defect 10, Oocyte maturation defect 10
RS189438534 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, GRIP1-related disorder
RS1894386318 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1894387648 REC114 Health Risk Pathogenic Oocyte maturation defect 10, Oocyte maturation defect 10
RS189440246 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, NEBL-related disorder
RS1894423425 DUOX2 Health Risk Pathogenic —
RS189443180 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS189444354 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS189444981 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS189445085 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS189445371 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS189447069 AP3B2 Health Risk Conflicting classifications of pathogenicity —
RS1894475413 DUOX2 Health Risk Likely pathogenic —
RS189448963 DPYS Health Risk Pathogenic/Likely pathogenic Dihydropyrimidinase deficiency, DPYS-related disorder
RS189449467 CDT1 Health Risk Conflicting classifications of pathogenicity —
RS1894506287 PTPRQ Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS189453524 PIEZO2 Health Risk Conflicting classifications of pathogenicity —
RS1894556452 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Radioulnar synostosis
RS1894564374 UBR7 Health Risk Pathogenic Li-Campeau syndrome, Li-Campeau syndrome
RS1894566397 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Premature closure of fontanelles
RS1894570068 PTPRQ Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS1894570880 SMAD6 Health Risk Likely pathogenic —
RS1894573824 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
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