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
RS1181631215 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS118163237 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS1181632862 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1181633993 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1181638652 FN1 Health Risk Pathogenic/Likely pathogenic Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia - Sutcliffe type
RS1181644535 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1181648787 FAM161A Health Risk Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1181654735 TTC7A Health Risk Likely pathogenic Gastrointestinal defect and immunodeficiency syndrome, Multiple gastrointestinal atresias
RS118166702 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
RS1181672712 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1181684993 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS118169528 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS1181703281 GORAB Health Risk Pathogenic —
RS1181733510 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1181742615 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS118174667 COLGALT1 Health Risk Conflicting classifications of pathogenicity COLGALT1-related disorder, COLGALT1-related disorder
RS118174674 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS118175546 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, TH-related disorder
RS1181756021 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1181790213 COL11A2 Health Risk Pathogenic —
RS1181822928 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS1181841660 GFM1 Health Risk Pathogenic —
RS1181854686 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1181863323 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS1181877748 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS118187988 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS118188023 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS1181898358 SETD5 Health Risk Pathogenic —
RS1181901214 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Sensorineural hearing loss disorder
RS1181915653 CTNNA1 Health Risk Pathogenic/Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS118192098 MT-TK Health Risk Pathogenic Leigh syndrome, MERRF syndrome
RS118192099 MT-TK Health Risk Likely pathogenic MERRF/MELAS overlap syndrome, MERRF syndrome
RS118192100 MT-TK Health Risk Likely pathogenic Cardiomyopathy and Deafness, Leigh syndrome
RS118192101 MT-TK Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial disease
RS118192117 RYR1 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Central core myopathy
RS118192123 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192125 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS118192127 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192129 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS118192131 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS118192132 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS118192133 RYR1 Health Risk Pathogenic Central core myopathy, RYR1-related disorder
RS118192134 RYR1 Health Risk Pathogenic Central core myopathy, RYR1-related disorder
RS118192136 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS118192139 RYR1 Health Risk Pathogenic/Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192140 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS118192142 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS118192143 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS118192144 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS118192146 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS118192147 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192148 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192149 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS118192150 RYR1 Health Risk Pathogenic/Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192151 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192153 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192154 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS118192155 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192156 RYR1 Health Risk Pathogenic Central core myopathy, RYR1-related disorder
RS118192162 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS118192163 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS118192164 RYR1 Health Risk Pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS118192165 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS118192166 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia of anesthesia
RS118192168 RYR1 Health Risk Likely pathogenic Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS118192169 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS118192171 RYR1 Health Risk Likely pathogenic Neuromuscular disease, congenital
RS118192172 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS118192173 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS118192174 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Clubfoot
RS118192175 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS118192176 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS118192177 RYR1 Health Risk Pathogenic Malignant hyperthermia, susceptibility to
RS118192178 RYR1 Health Risk Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192179 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, RYR1-related disorder
RS118192180 RYR1 Health Risk Pathogenic/Likely pathogenic Central core myopathy, RYR1-related disorder
RS118192181 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS118192183 RYR1 Health Risk Pathogenic Central core myopathy, RYR1-related disorder
RS118192184 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS118192185 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192186 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS118192188 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192194 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS118192195 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS118192197 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS118192199 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192200 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192201 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192202 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192203 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS118192204 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192205 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS118192206 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192207 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192208 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192209 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS118192211 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS118192212 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizure, Developmental and epileptic encephalopathy
RS118192215 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS118192216 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
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