SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886041994 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS886041995 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS886041996 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS886041997 CTCF Health Risk Pathogenic Desmoplastic/nodular medulloblastoma, Alveolar rhabdomyosarcoma
RS886041998 NEB Health Risk Pathogenic —
RS886041999 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Inborn genetic diseases
RS886042000 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Intellectual disability
RS886042001 ADNP Health Risk Pathogenic —
RS886042002 PIK3CA Health Risk Pathogenic/Likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, Cowden syndrome
RS886042003 ADNP Health Risk Pathogenic —
RS886042004 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS886042005 SLC6A8 Health Risk Pathogenic —
RS886042006 EYA1 Health Risk Pathogenic —
RS886042007 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS886042008 AGL Health Risk Pathogenic —
RS886042009 COL2A1 Health Risk Pathogenic —
RS886042010 KCNQ2 Health Risk Pathogenic —
RS886042011 SALL1 Health Risk Pathogenic —
RS886042012 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS886042013 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia 1
RS886042014 CDKL5 Health Risk Pathogenic —
RS886042015 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS886042016 ANKRD11 Health Risk Pathogenic —
RS886042017 PURA Health Risk Pathogenic —
RS886042018 EHMT1 Health Risk Pathogenic —
RS886042019 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, KBG syndrome
RS886042020 CEP290 Health Risk Pathogenic —
RS886042021 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS886042022 ANK1 Health Risk Pathogenic —
RS886042023 NEXMIF Health Risk Pathogenic —
RS886042024 CHD7 Health Risk Pathogenic —
RS886042025 PHEX Health Risk Pathogenic —
RS886042026 ADNP Health Risk Pathogenic —
RS886042027 POGZ Health Risk Pathogenic/Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS886042028 MOCS1 Health Risk Pathogenic —
RS886042029 ANKRD11 Health Risk Pathogenic —
RS886042030 KIT Health Risk Pathogenic —
RS886042031 STXBP1 Health Risk Pathogenic —
RS886042032 TSC2 Health Risk Pathogenic —
RS886042033 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS886042034 ABCA4 Health Risk Pathogenic/Likely pathogenic —
RS886042035 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS886042036 ARID1A Health Risk Pathogenic —
RS886042037 SH3PXD2B Health Risk Pathogenic —
RS886042038 TULP1 Health Risk Pathogenic —
RS886042039 CHD7 Health Risk Pathogenic —
RS886042041 EEF1A2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 33
RS886042043 COL2A1 Health Risk Pathogenic/Likely pathogenic —
RS886042044 FH Health Risk Pathogenic —
RS886042045 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS886042046 SLC6A1 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Epilepsy with myoclonic atonic seizures
RS886042047 NSD1 Health Risk Pathogenic —
RS886042048 EHMT1 Health Risk Pathogenic —
RS886042049 TBX1 Health Risk Pathogenic —
RS886042050 JAG1 Health Risk Pathogenic —
RS886042051 IL2RG Health Risk Pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS886042056 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS886042057 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS886042058 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS886042060 GALT Health Risk Pathogenic —
RS886042061 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS886042064 GALT Health Risk Conflicting classifications of pathogenicity Galactosemia, Galactosemia
RS886042066 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS886042070 GALT Health Risk Pathogenic/Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS886042073 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosistype IIIB, Mucopolysaccharidosis
RS886042078 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS886042079 GLB1 Health Risk Likely pathogenic Infantile GM1 gangliosidosis, Infantile GM1 gangliosidosis
RS886042080 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS886042084 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS886042086 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS886042087 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS886042088 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS886042089 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS886042091 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886042092 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS886042093 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy
RS886042094 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS886042095 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS886042097 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS886042098 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS886042104 ERCC8 Health Risk Conflicting classifications of pathogenicity —
RS886042106 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS886042108 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886042109 DMD Health Risk Likely pathogenic —
RS886042110 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886042111 MYH3 Health Risk Likely pathogenic —
RS886042115 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042116 TGM1 Health Risk Likely pathogenic —
RS886042120 GNE Health Risk Pathogenic/Likely pathogenic Sialuria, GNE myopathy
RS886042121 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886042123 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042124 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042125 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS886042128 MMUT Health Risk Pathogenic —
RS886042129 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS886042130 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-related disorder
RS886042132 IFT122 Health Risk Pathogenic —
RS886042134 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS886042136 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS886042140 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
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