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rs121908552

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908552(A;A)
Make rs121908552(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63964587
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908552
ebirs121908552
HLIrs121908552
Exacrs121908552
Varsomers121908552
Maprs121908552
PheGenIrs121908552
hapmaprs121908552
1000 genomesrs121908552
hgdprs121908552
ensemblrs121908552
gopubmedrs121908552
geneviewrs121908552
scholarrs121908552
googlers121908552
pharmgkbrs121908552
gwascentralrs121908552
openSNPrs121908552
23andMers121908552
23andMe allrs121908552
SNP Nexus

SNPshotrs121908552
SNPdbers121908552
MSV3drs121908552
GWAS Ctlgrs121908552
Max Magnitude0
OMIM603967
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908552(A;A)
Alt rs121908552(A;A)
Reference rs121908552(G;G)
Significance Pathogenic
Disease Potassium aggravated myotonia
Variation info
Gene SCN4A
CLNDBN Potassium aggravated myotonia
Reversed 1
HGVS NC_000017.10:g.62041947C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006273.3,