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rs80338790

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338790(C;C)
Make rs80338790(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941814
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338790
ebirs80338790
HLIrs80338790
Exacrs80338790
Varsomers80338790
Maprs80338790
PheGenIrs80338790
hapmaprs80338790
1000 genomesrs80338790
hgdprs80338790
ensemblrs80338790
gopubmedrs80338790
geneviewrs80338790
scholarrs80338790
googlers80338790
pharmgkbrs80338790
gwascentralrs80338790
openSNPrs80338790
23andMers80338790
23andMe allrs80338790
SNP Nexus

SNPshotrs80338790
SNPdbers80338790
MSV3drs80338790
GWAS Ctlgrs80338790
Max Magnitude0
ClinVar
Risk rs80338790(C;C)
Alt rs80338790(C;C)
Reference rs80338790(T;T)
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.62019174A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020275.1,