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
RS1574001405 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1574003784 CHRNA1 Health Risk Likely pathogenic —
RS1574004452 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574005235 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1574005451 REEP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1574005699 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574006637 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS1574006857 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy 6B
RS1574007140 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1574007436 CHRNA1 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS1574011727 CHRNA1 Health Risk Likely pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1574014358 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1574016452 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1574039742 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574042462 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy
RS1574047005 CNNM4 Health Risk Likely pathogenic Jalili syndrome, Jalili syndrome
RS1574047454 CNNM4 Health Risk Likely pathogenic Jalili syndrome, Jalili syndrome
RS1574050861 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1574051096 GFPT1 Health Risk Likely pathogenic —
RS1574051206 SCN1A Health Risk Pathogenic —
RS1574051496 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574051665 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574052179 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574052546 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Generalized epilepsy with febrile seizures plus
RS1574058076 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1574060250 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574060717 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574060743 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1574061044 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574066113 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1574066341 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1574066599 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS1574068971 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Generalized epilepsy with febrile seizures plus
RS1574069096 SCN1A Health Risk Likely pathogenic —
RS1574069132 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574070639 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1574070787 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1574077466 CERKL Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1574077569 REEP1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 31, Spastic paraplegia
RS1574081963 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1574083547 TTN Health Risk Pathogenic/Likely pathogenic Primary familial dilated cardiomyopathy, Cardiovascular phenotype
RS1574084195 PDE11A Health Risk Likely pathogenic Pigmented nodular adrenocortical disease, primary
RS1574087037 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Cardiovascular phenotype
RS1574097294 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1574099951 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1574100501 RAB3GAP1 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 1, Warburg micro syndrome 1
RS1574121486 LRP2 Health Risk Likely pathogenic —
RS1574132879 LRP2 Health Risk Pathogenic —
RS1574152522 TBR1 Health Risk Likely pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1574152672 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS1574159505 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS1574166948 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1574168611 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574169179 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574170908 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574172286 SCN1A Health Risk Likely pathogenic —
RS1574182550 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574183148 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS1574192005 SCN1A Health Risk Pathogenic Seizure, Early-infantile DEE
RS1574192998 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574197 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS1574201555 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574201591 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574202324 SCN1A Health Risk Pathogenic SCN1A-related disorder, Severe myoclonic epilepsy in infancy
RS1574208760 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574209023 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1574212904 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS1574214734 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS1574216450 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1574217232 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574223964 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1574224274 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574225593 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574226259 CALCRL Health Risk Pathogenic Lymphatic malformation 8, Lymphatic malformation 8
RS1574234690 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Generalized epilepsy with febrile seizures plus
RS1574240716 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574263047 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574263819 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574264671 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1574264920 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1574265144 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1574265485 SCN1A Health Risk Likely pathogenic —
RS1574266171 KCNH1 Health Risk Likely pathogenic —
RS1574266328 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1574266490 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1574266816 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, SCN1A Seizure Disorders
RS1574270768 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS1574271602 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574271644 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574271827 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1574272192 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574277160 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1574281711 SCN1A Health Risk Pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS1574282312 SCN1A Health Risk Likely pathogenic —
RS1574291210 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574302195 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1574303761 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS1574312497 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1574315873 MECR Health Risk Pathogenic Dystonia, childhood-onset
RS1574322133 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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