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rs121913590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913590(C;T)
Make rs121913590(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306864
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913590
ebirs121913590
HLIrs121913590
Exacrs121913590
Varsomers121913590
Maprs121913590
PheGenIrs121913590
hapmaprs121913590
1000 genomesrs121913590
hgdprs121913590
ensemblrs121913590
gopubmedrs121913590
geneviewrs121913590
scholarrs121913590
googlers121913590
pharmgkbrs121913590
gwascentralrs121913590
openSNPrs121913590
23andMers121913590
23andMe allrs121913590
SNP Nexus

SNPshotrs121913590
SNPdbers121913590
MSV3drs121913590
GWAS Ctlgrs121913590
Max Magnitude0
OMIM159440
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121913590(T;T)
Alt rs121913590(T;T)
Reference rs121913590(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b not provided
Reversed 1
HGVS NC_000001.10:g.161276654G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015238.26, RCV000237048.1,