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rs80338960

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338960(A;G)
Make rs80338960(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63943006
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338960
ebirs80338960
HLIrs80338960
Exacrs80338960
Varsomers80338960
Maprs80338960
PheGenIrs80338960
hapmaprs80338960
1000 genomesrs80338960
hgdprs80338960
ensemblrs80338960
gopubmedrs80338960
geneviewrs80338960
scholarrs80338960
googlers80338960
pharmgkbrs80338960
gwascentralrs80338960
openSNPrs80338960
23andMers80338960
23andMe allrs80338960
SNP Nexus

SNPshotrs80338960
SNPdbers80338960
MSV3drs80338960
GWAS Ctlgrs80338960
Max Magnitude0
ClinVar
Risk rs80338960(G;G)
Alt rs80338960(G;G)
Reference rs80338960(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.62020366T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020273.1,