Have questions? Visit https://www.reddit.com/r/SNPedia

rs80338951

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338951(C;T)
Make rs80338951(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position63968322
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338951
ebirs80338951
HLIrs80338951
Exacrs80338951
Varsomers80338951
Maprs80338951
PheGenIrs80338951
hapmaprs80338951
1000 genomesrs80338951
hgdprs80338951
ensemblrs80338951
gopubmedrs80338951
geneviewrs80338951
scholarrs80338951
googlers80338951
pharmgkbrs80338951
gwascentralrs80338951
openSNPrs80338951
23andMers80338951
23andMe allrs80338951
SNP Nexus

SNPshotrs80338951
SNPdbers80338951
MSV3drs80338951
GWAS Ctlgrs80338951
Max Magnitude0
ClinVar
Risk rs80338951(T;T)
Alt rs80338951(T;T)
Reference rs80338951(C;C)
Significance Pathogenic
Disease Hypokalemic periodic paralysis 1 Congenital myasthenic syndrome Congenital myasthenic syndrome
Variation info
Gene SCN4A
CLNDBN Hypokalemic periodic paralysis 1 Congenital myasthenic syndrome, acetazolamide-responsive Congenital myasthenic syndrome
Reversed 1
HGVS NC_000017.10:g.62045682G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020280.1, RCV000201211.1, RCV000235040.1,