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rs121908550

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908550(G;G)
Make rs121908550(G;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941984
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908550
ebirs121908550
HLIrs121908550
Exacrs121908550
Varsomers121908550
Maprs121908550
PheGenIrs121908550
hapmaprs121908550
1000 genomesrs121908550
hgdprs121908550
ensemblrs121908550
gopubmedrs121908550
geneviewrs121908550
scholarrs121908550
googlers121908550
pharmgkbrs121908550
gwascentralrs121908550
openSNPrs121908550
23andMers121908550
23andMe allrs121908550
SNP Nexus

SNPshotrs121908550
SNPdbers121908550
MSV3drs121908550
GWAS Ctlgrs121908550
Max Magnitude0
OMIM603967
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908550(G;G)
Alt rs121908550(G;G)
Reference rs121908550(T;T)
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.62019344A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006270.4,