Have questions? Visit https://www.reddit.com/r/SNPedia

rs121913592

From SNPedia

Merged intors121913585
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913592(C;T)
Make rs121913592(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307304
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913592
ebirs121913592
HLIrs121913592
Exacrs121913592
Varsomers121913592
Maprs121913592
PheGenIrs121913592
hapmaprs121913592
1000 genomesrs121913592
hgdprs121913592
ensemblrs121913592
gopubmedrs121913592
geneviewrs121913592
scholarrs121913592
googlers121913592
pharmgkbrs121913592
gwascentralrs121913592
openSNPrs121913592
23andMers121913592
23andMe allrs121913592
SNP Nexus

SNPshotrs121913592
SNPdbers121913592
MSV3drs121913592
GWAS Ctlgrs121913592
StatusMerged into rs121913585
Max Magnitude0
OMIM159440
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121913592(T;T)
Alt rs121913592(T;T)
Reference rs121913592(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, type IB
Reversed 1
HGVS NC_000001.10:g.161277094G>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000035499.1,