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rs80338955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338955(A;A)
Make rs80338955(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position63957473
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338955
ebirs80338955
HLIrs80338955
Exacrs80338955
Varsomers80338955
Maprs80338955
PheGenIrs80338955
hapmaprs80338955
1000 genomesrs80338955
hgdprs80338955
ensemblrs80338955
gopubmedrs80338955
geneviewrs80338955
scholarrs80338955
googlers80338955
pharmgkbrs80338955
gwascentralrs80338955
openSNPrs80338955
23andMers80338955
23andMe allrs80338955
SNP Nexus

SNPshotrs80338955
SNPdbers80338955
MSV3drs80338955
GWAS Ctlgrs80338955
Max Magnitude0
ClinVar
Risk rs80338955(A;A)
Alt rs80338955(A;A)
Reference rs80338955(C;C)
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.62034833G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020265.1,