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rs121913594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913594(A;G)
Make rs121913594(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306914
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913594
ebirs121913594
HLIrs121913594
Exacrs121913594
Varsomers121913594
Maprs121913594
PheGenIrs121913594
hapmaprs121913594
1000 genomesrs121913594
hgdprs121913594
ensemblrs121913594
gopubmedrs121913594
geneviewrs121913594
scholarrs121913594
googlers121913594
pharmgkbrs121913594
gwascentralrs121913594
openSNPrs121913594
23andMers121913594
23andMe allrs121913594
SNP Nexus

SNPshotrs121913594
SNPdbers121913594
MSV3drs121913594
GWAS Ctlgrs121913594
Max Magnitude0
OMIM159440
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121913594(G;G)
Alt rs121913594(G;G)
Reference rs121913594(A;A)
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.161276704T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015242.27,