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rs80338791

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338791(A;A)
Make rs80338791(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941803
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338791
ebirs80338791
HLIrs80338791
Exacrs80338791
Varsomers80338791
Maprs80338791
PheGenIrs80338791
hapmaprs80338791
1000 genomesrs80338791
hgdprs80338791
ensemblrs80338791
gopubmedrs80338791
geneviewrs80338791
scholarrs80338791
googlers80338791
pharmgkbrs80338791
gwascentralrs80338791
openSNPrs80338791
23andMers80338791
23andMe allrs80338791
SNP Nexus

SNPshotrs80338791
SNPdbers80338791
MSV3drs80338791
GWAS Ctlgrs80338791
Max Magnitude0
ClinVar
Risk rs80338791(A;A)
Alt rs80338791(A;A)
Reference rs80338791(G;G)
Significance Pathogenic
Disease Hyperkalemic Periodic Paralysis Type 1
Variation info
Gene SCN4A
CLNDBN Hyperkalemic Periodic Paralysis Type 1
Reversed 1
HGVS NC_000017.10:g.62019163C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020277.1,