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

rs121908545

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908545(A;A)
Make rs121908545(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position63941939
GeneSCN4A
is asnp
is mentioned by
dbSNPrs121908545
ebirs121908545
HLIrs121908545
Exacrs121908545
Varsomers121908545
Maprs121908545
PheGenIrs121908545
hapmaprs121908545
1000 genomesrs121908545
hgdprs121908545
ensemblrs121908545
gopubmedrs121908545
geneviewrs121908545
scholarrs121908545
googlers121908545
pharmgkbrs121908545
gwascentralrs121908545
openSNPrs121908545
23andMers121908545
23andMe allrs121908545
SNP Nexus

SNPshotrs121908545
SNPdbers121908545
MSV3drs121908545
GWAS Ctlgrs121908545
Max Magnitude0
OMIM603967
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908545(A;A)
Alt rs121908545(A;A)
Reference rs121908545(G;G)
Significance Pathogenic
Disease Hyperkalemic Periodic Paralysis Type 1 Paramyotonia congenita of von Eulenburg
Variation info
Gene SCN4A
CLNDBN Hyperkalemic Periodic Paralysis Type 1 Paramyotonia congenita of von Eulenburg
Reversed 1
HGVS NC_000017.10:g.62019299C>G; NC_000017.10:g.62019299C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000206910.1, RCV000006259.4, RCV000206992.1,