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rs121913593

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913593(C;T)
Make rs121913593(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306110
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913593
ebirs121913593
HLIrs121913593
Exacrs121913593
Varsomers121913593
Maprs121913593
PheGenIrs121913593
hapmaprs121913593
1000 genomesrs121913593
hgdprs121913593
ensemblrs121913593
gopubmedrs121913593
geneviewrs121913593
scholarrs121913593
googlers121913593
pharmgkbrs121913593
gwascentralrs121913593
openSNPrs121913593
23andMers121913593
23andMe allrs121913593
SNP Nexus

SNPshotrs121913593
SNPdbers121913593
MSV3drs121913593
GWAS Ctlgrs121913593
Max Magnitude0
OMIM159440
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121913593(T;T)
Alt rs121913593(T;T)
Reference rs121913593(C;C)
Significance Pathogenic
Disease Neuropathy
Variation info
Gene MPZ
CLNDBN Neuropathy, congenital hypomyelinating, autosomal dominant
Reversed 1
HGVS NC_000001.10:g.161275900G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015241.23,