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rs121908556

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908556(C;G)
Make rs121908556(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63957515
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908556
ebirs121908556
HLIrs121908556
Exacrs121908556
Varsomers121908556
Maprs121908556
PheGenIrs121908556
hapmaprs121908556
1000 genomesrs121908556
hgdprs121908556
ensemblrs121908556
gopubmedrs121908556
geneviewrs121908556
scholarrs121908556
googlers121908556
pharmgkbrs121908556
gwascentralrs121908556
openSNPrs121908556
23andMers121908556
23andMe allrs121908556
SNP Nexus

SNPshotrs121908556
SNPdbers121908556
MSV3drs121908556
GWAS Ctlgrs121908556
Max Magnitude0
OMIM603967
Desc
Variant0022
Relatedalso
OMIM603967
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121908556(G,T;G,T)
Alt rs121908556(G,T;G,T)
Reference rs121908556(C;C)
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.62034875G>A; NC_000017.10:g.62034875G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006263.4, RCV000206954.1, RCV000006281.4, RCV000206909.1,