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
RS1175245492 CFD Health Risk Likely pathogenic —
RS1175257797 FANCC Health Risk Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1175327119 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS1175339508 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1175349754 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS117535117 IL21R Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, IgE responsiveness
RS117535913 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS1175359422 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1175359759 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Hypertrophic cardiomyopathy 26
RS1175373447 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1175384200 ALX4 Health Risk Pathogenic —
RS1175404096 MNX1 Health Risk Pathogenic —
RS117540484 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1175416158 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1175443221 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1175447973 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS117545428 PLCE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nephrotic syndrome
RS1175457710 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1175493477 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1175509707 C8B Health Risk Pathogenic —
RS117551279 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1175530571 CDK13 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, dysmorphic facial features
RS1175537809 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1175543698 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1175545518 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1175546784 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS117555054 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS117555121 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS1175557352 MYH3 Health Risk Likely pathogenic MYH3-related disorder, Freeman-Sheldon syndrome
RS1175562986 ZBTB24 Health Risk Likely pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS1175570663 MYSM1 Health Risk Pathogenic —
RS1175574879 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS117557829 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS1175589172 POGLUT1 Health Risk Pathogenic —
RS1175598290 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1175622794 ADSS1 Health Risk Pathogenic Myopathy, distal
RS1175632662 VPS13A Health Risk Likely pathogenic —
RS1175674325 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1175689296 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS117572522 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, GHRHR-related disorder
RS117574002 DPP6 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 33
RS1175745274 SLC25A19 Health Risk Likely pathogenic Progressive demyelinating neuropathy with bilateral striatal necrosis, Progressive demyelinating neuropathy with bilateral striatal necrosis
RS117575041 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS1175750984 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS117576077 C2 Health Risk Conflicting classifications of pathogenicity Complement component 2 deficiency, Age related macular degeneration 14
RS1175771583 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1175778112 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 47, Immunodeficiency 47
RS117578796 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Malignant lymphoma
RS1175810875 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1175814929 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS117583120 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1175843234 ATP7B Health Risk Likely pathogenic —
RS117587497 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1175877764 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1175879532 CACNA1B Health Risk Pathogenic —
RS1175885498 GMPPB Health Risk Likely pathogenic Myopathy caused by variation in GMPPB, Myopathy caused by variation in GMPPB
RS1175908615 EYS Health Risk Pathogenic —
RS1175912276 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS117592021 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS1175929008 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1175931250 LMOD2 Health Risk Pathogenic Cardiomyopathy, dilated
RS1175936301 LOXHD1 Health Risk Pathogenic —
RS1175936807 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS117593791 ERMARD Health Risk Conflicting classifications of pathogenicity —
RS117595965 SNORD118;TMEM107 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with calcifications and cysts, TMEM107-related disorder
RS117597269 BSCL2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 2, Neuronopathy
RS1175979418 PCDH12 Health Risk Pathogenic Diencephalic-mesencephalic junction dysplasia, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS1175983246 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS1175986621 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS117599771 ASTN2;TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 11
RS117600063 SCARB2 Health Risk Conflicting classifications of pathogenicity Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy
RS1176001640 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1176002553 NTHL1 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS1176007591 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS1176008720 ZNF462 Health Risk Pathogenic —
RS1176020475 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS117603931 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS1176062955 MTR Health Risk Pathogenic MTR-related disorder, Methylcobalamin deficiency type cblG
RS1176071759 COL18A1 Health Risk Pathogenic —
RS1176071790 PAX7 Health Risk Pathogenic/Likely pathogenic Myopathy, congenital
RS1176090269 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1176097396 ABCC8 Health Risk Likely pathogenic —
RS117609949 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1176100000 ITGB4 Health Risk Likely pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS1176104366 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1176112251 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS117611401 SMARCA4 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome, Hereditary cancer-predisposing syndrome
RS1176117951 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1176118785 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1176119481 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS1176128034 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1176131791 ECEL1 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1176136454 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS117614122 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 8
RS1176143542 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1176150416 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS1176176320 BBS10 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Bardet-Biedl syndrome
RS1176180722 CNTNAP2 Health Risk Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS117620008 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS1176211628 PACS1 Health Risk Conflicting classifications of pathogenicity —
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