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
RS1689251604 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1689265228 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1689271621 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689272728 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1689278062 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1689278461 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Early-infantile DEE
RS1689280236 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1689285717 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689294239 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1689298277 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1689298888 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1689300152 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1689304332 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1689309551 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1689321394 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS16893332 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1689333436 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1689339718 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1689344988 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS1689347935 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689350809 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1689352168 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1689357139 SATB2 Health Risk Pathogenic —
RS1689377026 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1689380193 ORC4 Health Risk Pathogenic —
RS1689381070 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1689412281 ORC4 Health Risk Pathogenic —
RS1689427568 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1689488709 SCN3A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1689552727 FASTKD2 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44
RS1689578912 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1689579412 RYR2 Health Risk Likely pathogenic —
RS1689580631 ALS2 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS1689584119 ALS2 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS1689596670 TTN Health Risk Likely pathogenic Tibial muscular dystrophy, Tibial muscular dystrophy
RS1689669178 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689679432 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1689679880 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1689680658 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1689682880 SCN1A Health Risk Pathogenic/Likely pathogenic Autosomal dominant epilepsy, Early-infantile DEE
RS1689684958 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1689685377 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS1689700102 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1689704657 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1689707865 SCN1A Health Risk Pathogenic Microcephaly, Generalized epilepsy with febrile seizures plus
RS1689710741 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1689734633 SATB2 Health Risk Pathogenic —
RS1689734840 SATB2 Health Risk Pathogenic —
RS1689777278 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1689783166 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1689787372 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1689862418 LRP2 Health Risk Likely pathogenic —
RS1689931402 ALS2 Health Risk Pathogenic Juvenile amyotrophic lateral sclerosis, Infantile-onset ascending hereditary spastic paralysis
RS1689940049 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1689981394 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1689985819 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689986058 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1689990205 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1689992185 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1690001575 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1690003122 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1690011364 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1690013843 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS1690057369 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1690065341 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1690066397 ICOS Health Risk Pathogenic Immunodeficiency, common variable
RS1690111134 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1690115787 TTN Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Dilated cardiomyopathy 1G
RS1690127143 RAB3GAP1 Health Risk Pathogenic 18 conditions, 18 conditions
RS1690150292 FASTKD2 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44
RS1690174710 BMPR2 Health Risk Likely pathogenic —
RS1690249361 TET3 Health Risk Likely pathogenic Beck-Fahrner syndrome, Beck-Fahrner syndrome
RS1690250283 TET3 Health Risk Likely pathogenic —
RS1690318147 SYT2 Health Risk Pathogenic Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7
RS1690331819 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1690335308 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1690342079 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1690344942 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1690345764 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1690455297 SYT2 Health Risk Likely pathogenic —
RS16904774 TG Health Risk Pathogenic/Likely pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS16904791 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1690511212 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1690515734 SYT2 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7
RS16905194 ZFAT Health Risk risk factor Autoimmune thyroid disease, susceptibility to
RS1690523978 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1690532210 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1690571577 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group L, Fanconi anemia
RS1690572580 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1690574155 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1690577824 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1690583220 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1690605753 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1690631284 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1690636110 SYT2 Health Risk Likely pathogenic SYT2-related disorder, SYT2-related disorder
RS1690636140 ECEL1 Health Risk Pathogenic —
RS1690665406 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1690668690 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1690677282 GLE1 Health Risk Likely pathogenic —
RS1690729997 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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