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
RS1553523037 ABCA12 Health Risk Likely pathogenic —
RS1553523093 ABCA12 Health Risk Pathogenic —
RS1553523138 SCN1A Health Risk Pathogenic Inborn genetic diseases, Seizure
RS1553523142 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553523204 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1553523425 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS1553523630 ABCA12 Health Risk Likely pathogenic —
RS1553523940 CUL3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Pseudohypoaldosteronism type 2E
RS1553524697 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553524807 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1553524865 SCN1A Health Risk Pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS1553524889 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1553524977 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553525023 SCN1A Health Risk Likely pathogenic —
RS1553525036 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553525062 SCN1A Health Risk Pathogenic —
RS1553525146 SCN1A Health Risk Pathogenic —
RS1553525210 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553525267 SCN1A Health Risk Likely pathogenic —
RS1553525313 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1553525325 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1553525337 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS1553525358 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1553525592 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553525671 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1553525756 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553525857 PIKFYVE Health Risk Pathogenic/Likely pathogenic —
RS1553526002 ABCA12 Health Risk Pathogenic —
RS1553526116 TTN Health Risk Likely pathogenic —
RS1553526134 TTN Health Risk Likely pathogenic —
RS1553526162 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, See cases
RS1553526228 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1553526619 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553526733 SMARCAL1 Health Risk Likely pathogenic —
RS1553526884 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553527439 UNC80 Health Risk Pathogenic —
RS1553527930 SCN3A Health Risk Pathogenic Developmental and epileptic encephalopathy, 62
RS1553528016 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553529426 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553529427 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5
RS1553529461 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553529527 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Early-infantile DEE
RS1553530144 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553531134 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Severe myoclonic epilepsy in infancy
RS1553531178 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553531217 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553531385 SCN1A Health Risk Pathogenic Seizure, Seizure
RS1553531410 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553531682 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553531703 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1553532356 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553532470 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553532582 SCN1A Health Risk Likely pathogenic —
RS1553532671 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1553532782 SCN1A Health Risk Likely pathogenic —
RS1553534041 SCN1A Health Risk Pathogenic Seizure, Seizure
RS1553534233 SCN1A Health Risk Likely pathogenic —
RS1553534296 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553534421 FASTKD1 Health Risk Pathogenic Glaucoma 1, open angle
RS1553535063 NDUFB3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553535161 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1553535216 NRXN1 Health Risk Likely pathogenic —
RS1553535457 SCN3A Health Risk Conflicting classifications of pathogenicity SCN3A-related disorder, Developmental and epileptic encephalopathy
RS1553535841 CUL3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant pseudohypoaldosteronism type 1, NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES
RS1553535902 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1553536007 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1553536267 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553536305 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553537027 OBSL1 Health Risk Pathogenic —
RS1553537132 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS1553537332 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1553537512 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553538469 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553538488 OBSL1 Health Risk Likely pathogenic 3M syndrome 2, Short stature
RS1553538835 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553538888 SATB2 Health Risk Likely pathogenic —
RS1553538917 SATB2 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS1553538919 SATB2 Health Risk Pathogenic/Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1553539391 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553539620 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553539686 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553539777 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553539995 TTN Health Risk Pathogenic/Likely pathogenic Primary familial dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1553540207 SCN1A Health Risk Pathogenic —
RS1553540213 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553540263 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1553540282 SCN1A Health Risk Pathogenic —
RS1553540294 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553540342 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1553540382 SCN1A Health Risk Pathogenic —
RS1553540389 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1553540464 SCN1A Health Risk Likely pathogenic —
RS1553540503 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553540508 SCN1A Health Risk Pathogenic —
RS1553540620 IHH Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS1553540975 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553541028 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1553541066 SCN1A Health Risk Likely pathogenic —
RS1553541172 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Seizure
RS1553541193 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
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