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rs121913588

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913588(A;A)
Make rs121913588(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306747
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913588
ebirs121913588
HLIrs121913588
Exacrs121913588
Varsomers121913588
Maprs121913588
PheGenIrs121913588
hapmaprs121913588
1000 genomesrs121913588
hgdprs121913588
ensemblrs121913588
gopubmedrs121913588
geneviewrs121913588
scholarrs121913588
googlers121913588
pharmgkbrs121913588
gwascentralrs121913588
openSNPrs121913588
23andMers121913588
23andMe allrs121913588
SNP Nexus

SNPshotrs121913588
SNPdbers121913588
MSV3drs121913588
GWAS Ctlgrs121913588
Max Magnitude0
OMIM159440
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121913588(A;A)
Alt rs121913588(A;A)
Reference rs121913588(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed 1
HGVS NC_000001.10:g.161276537C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015236.26,