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
RS2468232479 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468232495 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468233136 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS2468233250 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468233671 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468233753 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 6A
RS2468235161 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468236072 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468236538 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468240887 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468243373 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468244716 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468244727 TTC21B Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468244789 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468245602 TTN Health Risk Likely pathogenic —
RS2468246033 TTN Health Risk Likely pathogenic —
RS2468246115 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468246502 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468246538 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468246751 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468247057 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468247268 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468247370 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468247392 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468247712 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468248065 SCN1A Health Risk Pathogenic Inborn genetic diseases, Severe myoclonic epilepsy in infancy
RS2468248886 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468252206 TTN Health Risk Likely pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2468253776 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2468254766 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468255187 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468257150 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2468257592 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS2468257785 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468257958 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468257991 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2468258318 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468258442 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468258726 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468259366 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468259742 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468261203 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468261989 RAB3GAP1 Health Risk Likely pathogenic —
RS2468262168 RAB3GAP1 Health Risk Pathogenic —
RS2468264153 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2468265565 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468268326 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468268596 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468269204 CERKL Health Risk Pathogenic —
RS2468271445 SCN1A Health Risk Pathogenic —
RS2468271732 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468271842 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468272048 NR4A2 Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS2468272530 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468272850 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468272893 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468273005 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468273178 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468278781 RAB3GAP1 Health Risk Likely pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS2468278834 RAB3GAP1 Health Risk Likely pathogenic —
RS2468278934 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468279150 NR4A2 Health Risk Likely pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2468280485 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2468281627 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468281737 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS2468281908 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468282575 NR4A2 Health Risk Likely pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2468282641 TTN-AS1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468282675 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2468283124 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468283192 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468283673 RAB3GAP1 Health Risk Pathogenic Martsolf syndrome 2, Martsolf syndrome 2
RS2468284394 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2468285387 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468285695 NR4A2 Health Risk Likely pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2468285722 NR4A2 Health Risk Likely pathogenic Complex neurodevelopmental disorder, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2468286272 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS2468286796 NR4A2 Health Risk Pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2468287434 NFE2L2 Health Risk Conflicting classifications of pathogenicity —
RS2468287811 NR4A2 Health Risk Pathogenic Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
RS2468289077 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468291215 ITGA6 Health Risk Pathogenic —
RS2468291275 ITGA6 Health Risk Pathogenic —
RS2468291331 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468291355 ITGA6 Health Risk Likely pathogenic —
RS2468291432 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468291727 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468291953 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS2468292203 CERKL Health Risk Pathogenic —
RS2468292526 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2468292863 TTN Health Risk Likely pathogenic —
RS2468294294 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Early-onset myopathy with fatal cardiomyopathy
RS2468294830 CERKL Health Risk Likely pathogenic —
RS2468295519 CERKL Health Risk Pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2468295626 CERKL Health Risk Pathogenic —
RS2468295898 CERKL Health Risk Pathogenic —
RS2468296507 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2468297861 ITGA6 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 6
RS2468298444 CERKL Health Risk Likely pathogenic —
RS2468298449 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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