Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908557

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908557(A;A)
Make rs121908557(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63957514
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908557
ebirs121908557
HLIrs121908557
Exacrs121908557
Varsomers121908557
Maprs121908557
PheGenIrs121908557
hapmaprs121908557
1000 genomesrs121908557
hgdprs121908557
ensemblrs121908557
gopubmedrs121908557
geneviewrs121908557
scholarrs121908557
googlers121908557
pharmgkbrs121908557
gwascentralrs121908557
openSNPrs121908557
23andMers121908557
23andMe allrs121908557
SNP Nexus

SNPshotrs121908557
SNPdbers121908557
MSV3drs121908557
GWAS Ctlgrs121908557
Max Magnitude0
OMIM603967
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121908557(A;A)
Alt rs121908557(A;A)
Reference rs121908557(G;G)
Significance Pathogenic
Disease Normokalemic periodic paralysis Hyperkalemic Periodic Paralysis Type 1
Variation info
Gene SCN4A
CLNDBN Normokalemic periodic paralysis, potassium-sensitive Hyperkalemic Periodic Paralysis Type 1
Reversed 1
HGVS NC_000017.10:g.62034874C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006282.4, RCV000206996.1,