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
RS1293342751 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1293351659 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
RS1293371764 VPS13A Health Risk Likely pathogenic —
RS1293372026 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1293390303 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS1293404628 FKRP Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS1293420539 EYA4 Health Risk Pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS1293427858 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS1293448832 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1293450628 MED23 Health Risk Pathogenic Intellectual disability, autosomal recessive 18
RS1293467045 MOS Health Risk Likely pathogenic Oocyte/zygote/embryo maturation arrest 20, Oocyte/zygote/embryo maturation arrest 20
RS1293471595 COL2A1 Health Risk Pathogenic —
RS1293477494 F7 Health Risk Pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS1293481687 TMEM67 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1293482406 PHEX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1293496023 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1293504009 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1293512916 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS1293515155 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1293522591 SZT2 Health Risk Pathogenic —
RS1293528130 SLC25A38 Health Risk Pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1293549383 ATP7B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Wilson disease
RS1293600145 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS1293617484 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1293618149 COL9A3 Health Risk Pathogenic —
RS1293619630 USH2A Health Risk Pathogenic Usher syndrome, Retinitis pigmentosa 39
RS1293620319 GNAT1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1293654827 RP1 Health Risk Pathogenic —
RS1293658262 IGSF1 Health Risk Likely pathogenic —
RS1293658639 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1293675104 MAP3K20 Health Risk Pathogenic Myopathy, centronuclear
RS1293701269 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1293713568 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1293733346 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1293736497 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1293743818 TUBB1 Health Risk Pathogenic Macrothrombocytopenia, isolated
RS1293760338 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1293775732 CLDN16 Health Risk Likely pathogenic Renal hypomagnesemia 5 with ocular involvement, Renal hypomagnesemia 5 with ocular involvement
RS1293789661 CLCN2 Health Risk Pathogenic Familial hyperaldosteronism type II, Epilepsy
RS1293819249 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1293824666 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS1293826790 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1293831035 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1293851600 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1293852552 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS1293857367 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1293893301 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS1293898535 BPTF Health Risk Conflicting classifications of pathogenicity —
RS1293901426 MLIP Health Risk Pathogenic Myopathy with myalgia, increased serum creatine kinase
RS1293906490 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1293908408 DLL3 Health Risk Pathogenic —
RS1293915082 CHST14 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, musculocontractural type
RS1293916143 SETD2 Health Risk Likely pathogenic Acute megakaryoblastic leukemia without down syndrome, Acute megakaryoblastic leukemia without down syndrome
RS1293925787 RINT1 Health Risk Pathogenic —
RS1293936199 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1293947350 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1293971731 SLC26A4 Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 4
RS1293979204 HCN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1293996279 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS1294025132 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1294029121 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1294044448 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS1294045208 NSUN2 Health Risk Pathogenic —
RS1294054951 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS1294058368 TOPORS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1294061925 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS1294100541 EXOC6B Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 3
RS1294102203 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1294102415 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1294116781 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1294136105 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS1294139623 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1294150954 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Neurodevelopmental delay
RS1294168838 MLYCD Health Risk Pathogenic Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS1294210561 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS1294213097 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS1294215890 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS1294221028 MCFD2 Health Risk Pathogenic Factor 5 and Factor VIII, combined deficiency of
RS12942386 MKS1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1294240905 SGSH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis
RS1294262903 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS1294265690 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1294268789 PEX1 Health Risk Pathogenic Zellweger spectrum disorders, Zellweger spectrum disorders
RS1294269013 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1294270968 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1294272918 SHANK3 Health Risk Pathogenic/Likely pathogenic Autistic behavior, Phelan-McDermid syndrome
RS1294289633 ERCC6 Health Risk Pathogenic —
RS1294295448 FAM161A Health Risk Pathogenic —
RS1294326404 LDLRAP1 Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1294330944 CERKL Health Risk Pathogenic —
RS1294340795 CNGB3 Health Risk Pathogenic —
RS1294360179 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1294369944 SLC45A2 Health Risk Pathogenic Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS1294383261 ARV1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 38
RS1294387014 MAGI2 Health Risk Conflicting classifications of pathogenicity —
RS1294402003 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS1294405938 TRMU Health Risk Conflicting classifications of pathogenicity TRMU-related disorder, TRMU-related disorder
RS1294413650 HSPG2 Health Risk Likely pathogenic Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1294424179 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Melanoma
RS1294428066 CSPP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 21, Meckel-Gruber syndrome
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