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rs121913587

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913587(C;C)
Make rs121913587(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306752
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913587
ebirs121913587
HLIrs121913587
Exacrs121913587
Varsomers121913587
Maprs121913587
PheGenIrs121913587
hapmaprs121913587
1000 genomesrs121913587
hgdprs121913587
ensemblrs121913587
gopubmedrs121913587
geneviewrs121913587
scholarrs121913587
googlers121913587
pharmgkbrs121913587
gwascentralrs121913587
openSNPrs121913587
23andMers121913587
23andMe allrs121913587
SNP Nexus

SNPshotrs121913587
SNPdbers121913587
MSV3drs121913587
GWAS Ctlgrs121913587
Max Magnitude0
OMIM159440
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121913587(C;C)
Alt rs121913587(C;C)
Reference rs121913587(T;T)
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.161276542A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015235.26,