Have questions? Visit https://www.reddit.com/r/SNPedia

rs121908551

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908551(A;A)
Make rs121908551(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63944708
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908551
ebirs121908551
HLIrs121908551
Exacrs121908551
Varsomers121908551
Maprs121908551
PheGenIrs121908551
hapmaprs121908551
1000 genomesrs121908551
hgdprs121908551
ensemblrs121908551
gopubmedrs121908551
geneviewrs121908551
scholarrs121908551
googlers121908551
pharmgkbrs121908551
gwascentralrs121908551
openSNPrs121908551
23andMers121908551
23andMe allrs121908551
SNP Nexus

SNPshotrs121908551
SNPdbers121908551
MSV3drs121908551
GWAS Ctlgrs121908551
Max Magnitude0
OMIM603967
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121908551(A;A)
Alt rs121908551(A;A)
Reference rs121908551(G;G)
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.62022068C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006272.3,