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rs121908554

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908554(A;A)
Make rs121908554(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941915
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908554
ebirs121908554
HLIrs121908554
Exacrs121908554
Varsomers121908554
Maprs121908554
PheGenIrs121908554
hapmaprs121908554
1000 genomesrs121908554
hgdprs121908554
ensemblrs121908554
gopubmedrs121908554
geneviewrs121908554
scholarrs121908554
googlers121908554
pharmgkbrs121908554
gwascentralrs121908554
openSNPrs121908554
23andMers121908554
23andMe allrs121908554
SNP Nexus

SNPshotrs121908554
SNPdbers121908554
MSV3drs121908554
GWAS Ctlgrs121908554
Max Magnitude0
OMIM603967
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121908554(A;A)
Alt rs121908554(A;A)
Reference rs121908554(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.62019275C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006278.5,