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rs80338959

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338959(A;G)
Make rs80338959(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63943036
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338959
ebirs80338959
HLIrs80338959
Exacrs80338959
Varsomers80338959
Maprs80338959
PheGenIrs80338959
hapmaprs80338959
1000 genomesrs80338959
hgdprs80338959
ensemblrs80338959
gopubmedrs80338959
geneviewrs80338959
scholarrs80338959
googlers80338959
pharmgkbrs80338959
gwascentralrs80338959
openSNPrs80338959
23andMers80338959
23andMe allrs80338959
SNP Nexus

SNPshotrs80338959
SNPdbers80338959
MSV3drs80338959
GWAS Ctlgrs80338959
Max Magnitude0
ClinVar
Risk rs80338959(G;G)
Alt rs80338959(G;G)
Reference rs80338959(A;A)
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.62020396T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020272.1,