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rs121908559

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908559(A;A)
Make rs121908559(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941854
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908559
ebirs121908559
HLIrs121908559
Exacrs121908559
Varsomers121908559
Maprs121908559
PheGenIrs121908559
hapmaprs121908559
1000 genomesrs121908559
hgdprs121908559
ensemblrs121908559
gopubmedrs121908559
geneviewrs121908559
scholarrs121908559
googlers121908559
pharmgkbrs121908559
gwascentralrs121908559
openSNPrs121908559
23andMers121908559
23andMe allrs121908559
SNP Nexus

SNPshotrs121908559
SNPdbers121908559
MSV3drs121908559
GWAS Ctlgrs121908559
Max Magnitude0
OMIM603967
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121908559(A;A)
Alt rs121908559(A;A)
Reference rs121908559(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.62019214C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006284.4,