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rs80338961

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80338961(A;T)
Make rs80338961(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941799
GeneSCN4A
is asnp
is mentioned by
dbSNPrs80338961
ebirs80338961
HLIrs80338961
Exacrs80338961
Varsomers80338961
Maprs80338961
PheGenIrs80338961
hapmaprs80338961
1000 genomesrs80338961
hgdprs80338961
ensemblrs80338961
gopubmedrs80338961
geneviewrs80338961
scholarrs80338961
googlers80338961
pharmgkbrs80338961
gwascentralrs80338961
openSNPrs80338961
23andMers80338961
23andMe allrs80338961
SNP Nexus

SNPshotrs80338961
SNPdbers80338961
MSV3drs80338961
GWAS Ctlgrs80338961
Max Magnitude0
ClinVar
Risk rs80338961(T;T)
Alt rs80338961(T;T)
Reference rs80338961(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.62019159T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020278.1,