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rs121908544

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908544(C;T)
Make rs121908544(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941940
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908544
ebirs121908544
HLIrs121908544
Exacrs121908544
Varsomers121908544
Maprs121908544
PheGenIrs121908544
hapmaprs121908544
1000 genomesrs121908544
hgdprs121908544
ensemblrs121908544
gopubmedrs121908544
geneviewrs121908544
scholarrs121908544
googlers121908544
pharmgkbrs121908544
gwascentralrs121908544
openSNPrs121908544
23andMers121908544
23andMe allrs121908544
SNP Nexus

SNPshotrs121908544
SNPdbers121908544
MSV3drs121908544
GWAS Ctlgrs121908544
Max Magnitude0
OMIM603967
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121908544(T;T)
Alt rs121908544(T;T)
Reference rs121908544(C;C)
Significance Pathogenic
Disease Paramyotonia congenita of von Eulenburg Hyperkalemic Periodic Paralysis Type 1
Variation info
Gene SCN4A
CLNDBN Paramyotonia congenita of von Eulenburg Hyperkalemic Periodic Paralysis Type 1
Reversed 1
HGVS NC_000017.10:g.62019300G>A; NC_000017.10:g.62019300G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006258.4, RCV000206951.1, RCV000206912.1,