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rs121908560

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908560(A;A)
Make rs121908560(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position63944694
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908560
ebirs121908560
HLIrs121908560
Exacrs121908560
Varsomers121908560
Maprs121908560
PheGenIrs121908560
hapmaprs121908560
1000 genomesrs121908560
hgdprs121908560
ensemblrs121908560
gopubmedrs121908560
geneviewrs121908560
scholarrs121908560
googlers121908560
pharmgkbrs121908560
gwascentralrs121908560
openSNPrs121908560
23andMers121908560
23andMe allrs121908560
SNP Nexus

SNPshotrs121908560
SNPdbers121908560
MSV3drs121908560
GWAS Ctlgrs121908560
Max Magnitude0
OMIM603967
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121908560(A;A)
Alt rs121908560(A;A)
Reference rs121908560(C;C)
Significance Pathogenic
Disease Paramyotonia congenita/hyperkalemic periodic paralysis
Variation info
Gene SCN4A
CLNDBN Paramyotonia congenita/hyperkalemic periodic paralysis
Reversed 1
HGVS NC_000017.10:g.62022054G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006285.4,