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
RS1423411761 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1423415130 XYLT2 Health Risk Likely pathogenic Spondylo-ocular syndrome, Spondylo-ocular syndrome
RS142342160 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS1423422339 COL2A1 Health Risk Likely pathogenic —
RS142342712 DNAAF19 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
RS1423432874 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS142343372 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS142343910 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS142344106 LYST Health Risk Conflicting classifications of pathogenicity LYST-related disorder, Chédiak-Higashi syndrome
RS1423445315 GNE Health Risk Pathogenic/Likely pathogenic GNE myopathy, Sialuria
RS142344676 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS142345108 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS142346005 PRODH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Proline dehydrogenase deficiency
RS142346622 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS142346902 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A
RS142347031 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS142347597 F8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1423476705 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS142347792 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS1423482308 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS142348542 ATP1A2 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 1, Familial hemiplegic migraine
RS1423486005 COL2A1 Health Risk Pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS142348767 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS142348911 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Inborn genetic diseases
RS1423493534 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS142349400 TBCE Health Risk Pathogenic —
RS142349403 UMPS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary orotic aciduria
RS1423496206 SCHIP1 Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS142349647 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Meckel syndrome
RS1423503309 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1423504237 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS142350563 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1423513108 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS142351929 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
RS1423523072 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1423526043 TRAF3IP1 Health Risk Pathogenic —
RS142352627 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS142352780 GP1BB Health Risk Conflicting classifications of pathogenicity —
RS142352887 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS1423534461 MAP3K1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 46
RS1423536179 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS142353864 MED25 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS142354133 ANKRD1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
RS142354704 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS142355302 ATP6V0D2 Health Risk Conflicting classifications of pathogenicity —
RS1423560123 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Congenital adrenal hyperplasia
RS1423560438 TNFAIP3 Health Risk Pathogenic Autoinflammatory syndrome, familial
RS1423563495 AFG2A Health Risk Likely pathogenic AFG2A-related disorder, AFG2A-related disorder
RS1423565685 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1423567292 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS142356935 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1423570602 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS142358238 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1423583605 OBSL1 Health Risk Pathogenic —
RS1423595663 B4GALNT1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1423596492 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS142360058 WDFY3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, WDFY3-related disorder
RS1423603720 FLG Health Risk Pathogenic —
RS142360465 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Clear cell carcinoma of kidney
RS1423611277 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS1423625765 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS142362933 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1423636259 ACOX1 Health Risk Pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS1423642805 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS142364440 ARR3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1423648586 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS142365855 FANCD2;LOC107303338;VHL Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS142366324 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS142366975 SLC27A4 Health Risk Pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS1423670990 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS1423674851 ABCC6 Health Risk Pathogenic —
RS1423679676 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1423687196 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS142368721 NDUFS4 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS142369181 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1423701653 EFEMP2 Health Risk Pathogenic/Likely pathogenic Cutis laxa, autosomal recessive
RS1423712037 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS142371511 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS142371761 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Inborn genetic diseases
RS142371860 DRC1 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 21, Primary ciliary dyskinesia
RS1423719687 ATP7A Health Risk Conflicting classifications of pathogenicity Intellectual disability, Menkes kinky-hair syndrome
RS142372794 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS142373936 FGF12 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 47
RS142374413 ABCA1 Health Risk Conflicting classifications of pathogenicity —
RS1423753702 WT1 Health Risk Pathogenic Drash syndrome, Wilms tumor 1
RS142375403 ARSL Health Risk Conflicting classifications of pathogenicity X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata
RS142375551 KATNIP Health Risk Conflicting classifications of pathogenicity Joubert syndrome 26, Joubert syndrome 26
RS1423756155 LZTR1 Health Risk Likely pathogenic Noonan syndrome 10, Noonan syndrome 2
RS142375882 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS1423777622 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Hearing loss
RS1423778925 TSHR Health Risk Likely pathogenic —
RS142378119 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS142378484 CTSC Health Risk Conflicting classifications of pathogenicity Papillon-Lefèvre syndrome, Haim-Munk syndrome
RS142378871 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Microcephaly 5
RS142379141 HKDC1 Health Risk Likely pathogenic Retinitis pigmentosa 92, Retinitis pigmentosa 92
RS142379458 GIGYF1 Health Risk Likely pathogenic GIGYF1-associated disorder, GIGYF1-associated disorder
RS142379631 DRC4 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS142380266 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1423803759 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS142381554 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder
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