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
RS1553517274 SCN3A Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1553517323 COL5A2 Health Risk Pathogenic/Likely pathogenic Telecanthus, Joint hypermobility
RS1553517456 MBD5 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1553517670 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553517973 MBD5 Health Risk Pathogenic —
RS1553517984 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1553517991 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1553518087 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1553518208 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553518389 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1553518395 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553518509 MBD5 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Autism spectrum disorder
RS1553518511 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1553518527 MBD5 Health Risk Pathogenic —
RS1553518529 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553518563 MBD5 Health Risk Likely pathogenic —
RS1553518593 MBD5 Health Risk Pathogenic/Likely pathogenic MBD5 associated neurodevelopmental disorder, MBD5 associated neurodevelopmental disorder
RS1553518719 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553518720 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553518726 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1553518752 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1553518813 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553518883 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1553519124 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553519324 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553519454 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553519853 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS1553519860 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553519865 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553519872 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553519902 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520001 SCN1A Health Risk Likely pathogenic —
RS1553520029 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520078 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520084 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520103 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553520105 SCN1A Health Risk Pathogenic Inborn genetic diseases, Early-infantile DEE
RS1553520107 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy 6B, Developmental and epileptic encephalopathy 6B
RS1553520151 SCN1A Health Risk Pathogenic —
RS1553520197 SCN1A Health Risk Likely pathogenic —
RS1553520199 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553520227 SCN1A Health Risk Pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS1553520236 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553520266 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS1553520268 SCN1A Health Risk Pathogenic Autosomal dominant epilepsy, Autosomal dominant epilepsy
RS1553520298 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520318 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520319 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520320 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520321 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553520323 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553520380 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520404 SCN1A Health Risk Likely pathogenic —
RS1553520425 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1553520439 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520442 SCN1A Health Risk Likely pathogenic —
RS1553520446 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553520447 ABCA12 Health Risk Pathogenic —
RS1553520468 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS1553520483 SCN1A Health Risk Likely pathogenic —
RS1553520516 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1553520530 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Severe myoclonic epilepsy in infancy
RS1553520532 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553520581 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553520585 MBD5 Health Risk Pathogenic —
RS1553520609 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553520624 MBD5 Health Risk Likely pathogenic —
RS1553520967 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553520980 SCN1A Health Risk Pathogenic —
RS1553520982 SCN1A Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553520984 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553521017 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553521040 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1553521051 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553521053 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553521078 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553521087 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553521119 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1553521389 CUL3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553521505 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553521507 SCN1A Health Risk Likely pathogenic —
RS1553521524 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS1553521530 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553521533 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553521537 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553521538 SCN1A Health Risk Pathogenic —
RS1553521567 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1553521650 MBD5 Health Risk Likely pathogenic —
RS1553521978 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553522104 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553522133 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553522266 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1553522287 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553522321 SCN1A Health Risk Pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS1553522331 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553522472 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553522517 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553522730 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553522751 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553522866 ABCA12 Health Risk Pathogenic —
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