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rs121908546

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908546(C;T)
Make rs121908546(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63951866
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908546
ebirs121908546
HLIrs121908546
Exacrs121908546
Varsomers121908546
Maprs121908546
PheGenIrs121908546
hapmaprs121908546
1000 genomesrs121908546
hgdprs121908546
ensemblrs121908546
gopubmedrs121908546
geneviewrs121908546
scholarrs121908546
googlers121908546
pharmgkbrs121908546
gwascentralrs121908546
openSNPrs121908546
23andMers121908546
23andMe allrs121908546
SNP Nexus

SNPshotrs121908546
SNPdbers121908546
MSV3drs121908546
GWAS Ctlgrs121908546
Max Magnitude0
OMIM603967
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121908546(T;T)
Alt rs121908546(T;T)
Reference rs121908546(C;C)
Significance Pathogenic
Disease Paramyotonia congenita/myotonia congenita Potassium aggravated myotonia
Variation info
Gene SCN4A
CLNDBN Paramyotonia congenita/myotonia congenita Potassium aggravated myotonia
Reversed 1
HGVS NC_000017.10:g.62029226G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006261.4, RCV000006262.4,