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rs121913601

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913601(C;T)
Make rs121913601(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307259
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913601
ebirs121913601
HLIrs121913601
Exacrs121913601
Varsomers121913601
Maprs121913601
PheGenIrs121913601
hapmaprs121913601
1000 genomesrs121913601
hgdprs121913601
ensemblrs121913601
gopubmedrs121913601
geneviewrs121913601
scholarrs121913601
googlers121913601
pharmgkbrs121913601
gwascentralrs121913601
openSNPrs121913601
23andMers121913601
23andMe allrs121913601
SNP Nexus

SNPshotrs121913601
SNPdbers121913601
MSV3drs121913601
GWAS Ctlgrs121913601
Max Magnitude0
OMIM159440
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121913601(T;T)
Alt rs121913601(T;T)
Reference rs121913601(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths Charcot-Marie-Tooth disease, demyelinating, type 1b
Reversed 1
HGVS NC_000001.10:g.161277049G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015252.22, RCV000201182.1,