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rs121908555

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 possibility of Hypokalemic periodic paralysis
Make rs121908555(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63945608
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908555
dbSNP (classic)rs121908555
ClinGenrs121908555
ebirs121908555
HLIrs121908555
Exacrs121908555
Gnomadrs121908555
Varsomers121908555
LitVarrs121908555
Maprs121908555
PheGenIrs121908555
Biobankrs121908555
1000 genomesrs121908555
hgdprs121908555
ensemblrs121908555
geneviewrs121908555
scholarrs121908555
googlers121908555
pharmgkbrs121908555
gwascentralrs121908555
openSNPrs121908555
23andMers121908555
SNPshotrs121908555
SNPdbers121908555
MSV3drs121908555
GWAS Ctlgrs121908555
Max Magnitude3
OMIM603967
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121908555(T;T)
Alt rs121908555(T;T)
Reference Rs121908555(C;C)
Significance Pathogenic
Disease Hypokalemic periodic paralysis
Variation info
Gene SCN4A
CLNDBN Hypokalemic periodic paralysis, type 2
Reversed 1
HGVS NC_000017.10:g.62022968G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006280.5,