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rs879253789

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879253789(C;T)
Make rs879253789(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position63941922
GeneSCN4A
is asnp
is mentioned by
dbSNPrs879253789
ebirs879253789
HLIrs879253789
Exacrs879253789
Varsomers879253789
Maprs879253789
PheGenIrs879253789
hapmaprs879253789
1000 genomesrs879253789
hgdprs879253789
ensemblrs879253789
gopubmedrs879253789
geneviewrs879253789
scholarrs879253789
googlers879253789
pharmgkbrs879253789
gwascentralrs879253789
openSNPrs879253789
23andMers879253789
23andMe allrs879253789
SNP Nexus

SNPshotrs879253789
SNPdbers879253789
MSV3drs879253789
GWAS Ctlgrs879253789
Max Magnitude0
ClinVar
Risk rs879253789(T;T)
Alt rs879253789(T;T)
Reference rs879253789(C;C)
Significance Pathogenic
Disease Congenital myasthenic syndrome
Variation info
Gene SCN4A
CLNDBN Congenital myasthenic syndrome
Reversed 1
HGVS NC_000017.10:g.62019282G>A
CLNSRC
CLNACC RCV000235032.1,