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rs121913602

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913602(A;T)
Make rs121913602(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307308
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913602
ebirs121913602
HLIrs121913602
Exacrs121913602
Varsomers121913602
Maprs121913602
PheGenIrs121913602
hapmaprs121913602
1000 genomesrs121913602
hgdprs121913602
ensemblrs121913602
gopubmedrs121913602
geneviewrs121913602
scholarrs121913602
googlers121913602
pharmgkbrs121913602
gwascentralrs121913602
openSNPrs121913602
23andMers121913602
23andMe allrs121913602
SNP Nexus

SNPshotrs121913602
SNPdbers121913602
MSV3drs121913602
GWAS Ctlgrs121913602
Max Magnitude0
OMIM159440
Desc
Variant0024
Relatedalso
ClinVar
Risk rs121913602(T;T)
Alt rs121913602(T;T)
Reference rs121913602(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths
Reversed 1
HGVS NC_000001.10:g.161277098T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015253.26,