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rs121913584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913584(A;A)
Make rs121913584(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306886
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913584
ebirs121913584
HLIrs121913584
Exacrs121913584
Varsomers121913584
Maprs121913584
PheGenIrs121913584
hapmaprs121913584
1000 genomesrs121913584
hgdprs121913584
ensemblrs121913584
gopubmedrs121913584
geneviewrs121913584
scholarrs121913584
googlers121913584
pharmgkbrs121913584
gwascentralrs121913584
openSNPrs121913584
23andMers121913584
23andMe allrs121913584
SNP Nexus

SNPshotrs121913584
SNPdbers121913584
MSV3drs121913584
GWAS Ctlgrs121913584
Max Magnitude0
OMIM159440
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913584(A,T;A,T)
Alt rs121913584(A,T;A,T)
Reference rs121913584(C;C)
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.161276676G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015230.21,