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rs121908547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908547(C;T)
Make rs121908547(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63943825
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908547
ebirs121908547
HLIrs121908547
Exacrs121908547
Varsomers121908547
Maprs121908547
PheGenIrs121908547
hapmaprs121908547
1000 genomesrs121908547
hgdprs121908547
ensemblrs121908547
gopubmedrs121908547
geneviewrs121908547
scholarrs121908547
googlers121908547
pharmgkbrs121908547
gwascentralrs121908547
openSNPrs121908547
23andMers121908547
23andMe allrs121908547
SNP Nexus

SNPshotrs121908547
SNPdbers121908547
MSV3drs121908547
GWAS Ctlgrs121908547
Max Magnitude0
OMIM603967
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121908547(T;T)
Alt rs121908547(T;T)
Reference rs121908547(C;C)
Significance Pathogenic
Disease Paramyotonia congenita of von Eulenburg
Variation info
Gene SCN4A
CLNDBN Paramyotonia congenita of von Eulenburg
Reversed 1
HGVS NC_000017.10:g.62021185G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006266.4,