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rs724159982

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs724159982(A;C)
Make rs724159982(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position35033497
GeneSCN1B
is asnp
is mentioned by
dbSNPrs724159982
dbSNP (classic)rs724159982
ClinGenrs724159982
ebirs724159982
HLIrs724159982
Exacrs724159982
Gnomadrs724159982
Varsomers724159982
LitVarrs724159982
Maprs724159982
PheGenIrs724159982
Biobankrs724159982
1000 genomesrs724159982
hgdprs724159982
ensemblrs724159982
geneviewrs724159982
scholarrs724159982
googlers724159982
pharmgkbrs724159982
gwascentralrs724159982
openSNPrs724159982
23andMers724159982
SNPshotrs724159982
SNPdbers724159982
MSV3drs724159982
GWAS Ctlgrs724159982
Max Magnitude0
ClinVar
Risk rs724159982(C;C)
Alt rs724159982(C;C)
Reference Rs724159982(A;A)
Significance Pathogenic
Disease Generalized epilepsy with febrile seizures plus
Variation info
Gene SCN1B
CLNDBN Generalized epilepsy with febrile seizures plus, type 1
Reversed 0
HGVS NC_000019.9:g.35524401A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009835.4,