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rs121913600

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913600(A;A)
Make rs121913600(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306848
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913600
ebirs121913600
HLIrs121913600
Exacrs121913600
Varsomers121913600
Maprs121913600
PheGenIrs121913600
hapmaprs121913600
1000 genomesrs121913600
hgdprs121913600
ensemblrs121913600
gopubmedrs121913600
geneviewrs121913600
scholarrs121913600
googlers121913600
pharmgkbrs121913600
gwascentralrs121913600
openSNPrs121913600
23andMers121913600
23andMe allrs121913600
SNP Nexus

SNPshotrs121913600
SNPdbers121913600
MSV3drs121913600
GWAS Ctlgrs121913600
Max Magnitude0
OMIM159440
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121913600(A;A)
Alt rs121913600(A;A)
Reference rs121913600(G;G)
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.161276638C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015251.26,