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

rs121908561

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121908561(A;G)
Make rs121908561(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63972197
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908561
ebirs121908561
HLIrs121908561
Exacrs121908561
Varsomers121908561
Maprs121908561
PheGenIrs121908561
hapmaprs121908561
1000 genomesrs121908561
hgdprs121908561
ensemblrs121908561
gopubmedrs121908561
geneviewrs121908561
scholarrs121908561
googlers121908561
pharmgkbrs121908561
gwascentralrs121908561
openSNPrs121908561
23andMers121908561
23andMe allrs121908561
SNP Nexus

SNPshotrs121908561
SNPdbers121908561
MSV3drs121908561
GWAS Ctlgrs121908561
Max Magnitude0
OMIM603967
Desc
Variant0029
Relatedalso
ClinVar
Risk rs121908561(G;G)
Alt rs121908561(G;G)
Reference rs121908561(A;A)
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.62049557T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006287.4,