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
RS794727046 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS794727049 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS794727051 AGL Health Risk Pathogenic —
RS794727053 TBXAS1 Health Risk Pathogenic/Likely pathogenic Ghosal hematodiaphyseal dysplasia, Ghosal hematodiaphyseal dysplasia
RS794727058 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Clear cell carcinoma of kidney
RS794727059 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727060 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Nonpapillary renal cell carcinoma
RS794727061 COL6A2 Health Risk Likely pathogenic —
RS794727062 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS794727063 CDKL5 Health Risk Pathogenic —
RS794727064 CDKL5 Health Risk Pathogenic —
RS794727065 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727066 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS794727069 OPA1 Health Risk Pathogenic/Likely pathogenic —
RS794727070 MKS1 Health Risk Likely pathogenic Joubert syndrome 28, Meckel syndrome
RS794727073 ALG1 Health Risk Pathogenic/Likely pathogenic Congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS794727076 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS794727078 NEXN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS794727082 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS794727083 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS794727084 F11 Health Risk Conflicting classifications of pathogenicity —
RS794727086 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS794727091 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS794727092 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS794727093 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS794727095 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS794727097 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS794727098 TRIP11 Health Risk Conflicting classifications of pathogenicity TRIP11-related disorder, Achondrogenesis
RS794727099 FGD1 Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS794727103 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS794727108 B3GLCT Health Risk Pathogenic —
RS794727109 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727110 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS794727111 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS794727112 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS794727113 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS794727114 COL5A1 Health Risk Pathogenic —
RS794727115 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS794727116 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS794727117 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS794727118 CACNB4 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS794727119 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS794727120 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS794727121 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727122 TP63 Health Risk Pathogenic —
RS794727123 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS794727124 CREBBP Health Risk Pathogenic —
RS794727127 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS794727128 SCN8A Health Risk Pathogenic/Likely pathogenic SCN8A-related disorder, Early-infantile DEE
RS794727130 RET Health Risk Pathogenic —
RS794727131 RET Health Risk Conflicting classifications of pathogenicity 6 conditions, Multiple endocrine neoplasia
RS794727134 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS794727136 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Inborn genetic diseases
RS794727137 OCRL Health Risk Likely pathogenic —
RS794727139 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 43
RS794727143 KMT2D Health Risk Pathogenic —
RS794727146 ADGRG1 Health Risk Conflicting classifications of pathogenicity —
RS794727152 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS794727153 STRA6 Health Risk Pathogenic —
RS794727154 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS794727155 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
RS794727158 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS794727160 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS794727162 CBS Health Risk Conflicting classifications of pathogenicity HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS794727163 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS794727165 GLB1 Health Risk Conflicting classifications of pathogenicity Infantile GM1 gangliosidosis, Mucopolysaccharidosis
RS794727166 PDE6A Health Risk Pathogenic Retinitis pigmentosa 43, Leber congenital amaurosis
RS794727170 DMD Health Risk Pathogenic —
RS794727171 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS794727172 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS794727173 OPA1 Health Risk Conflicting classifications of pathogenicity Optic atrophy, Optic atrophy
RS794727174 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS794727176 NSD1 Health Risk Pathogenic Sotos syndrome, Acute myeloid leukemia
RS794727178 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS794727181 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS794727182 OCRL Health Risk Pathogenic Lowe syndrome, Lowe syndrome
RS794727183 ABCB4 Health Risk Pathogenic/Likely pathogenic ABCB4-related disorder, Low phospholipid associated cholelithiasis
RS794727185 COL2A1 Health Risk Pathogenic —
RS794727187 PRKCSH Health Risk Pathogenic —
RS794727188 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727189 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS794727190 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS794727193 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS794727195 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS794727197 CDHR1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Cone dystrophy
RS794727198 HADHA Health Risk Pathogenic —
RS794727199 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS794727200 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS794727202 COL2A1 Health Risk Conflicting classifications of pathogenicity 15 conditions, 15 conditions
RS794727206 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS794727208 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS794727215 FOXP1 Health Risk Pathogenic —
RS794727216 FOXP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Inborn genetic diseases
RS794727219 HADHA Health Risk Pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS794727220 ABCA4 Health Risk Pathogenic —
RS794727225 COL2A1 Health Risk Pathogenic —
RS794727228 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS794727231 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS794727236 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS794727237 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
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