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rs80338789

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338789(A;A)
Make rs80338789(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63947091
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338789
ebirs80338789
HLIrs80338789
Exacrs80338789
Varsomers80338789
Maprs80338789
PheGenIrs80338789
hapmaprs80338789
1000 genomesrs80338789
hgdprs80338789
ensemblrs80338789
gopubmedrs80338789
geneviewrs80338789
scholarrs80338789
googlers80338789
pharmgkbrs80338789
gwascentralrs80338789
openSNPrs80338789
23andMers80338789
23andMe allrs80338789
SNP Nexus

SNPshotrs80338789
SNPdbers80338789
MSV3drs80338789
GWAS Ctlgrs80338789
Max Magnitude0
ClinVar
Risk rs80338789(A;A)
Alt rs80338789(A;A)
Reference rs80338789(G;G)
Significance Pathogenic
Disease Hypokalemic periodic paralysis 1 Hypokalemic periodic paralysis
Variation info
Gene SCN4A
CLNDBN Hypokalemic periodic paralysis 1 Hypokalemic periodic paralysis, type 2
Reversed 1
HGVS NC_000017.10:g.62024451C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020270.1, RCV000043510.4,


[PMID 16890191] Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.