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rs121913608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913608(A;A)
Make rs121913608(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306789
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913608
ebirs121913608
HLIrs121913608
Exacrs121913608
Varsomers121913608
Maprs121913608
PheGenIrs121913608
hapmaprs121913608
1000 genomesrs121913608
hgdprs121913608
ensemblrs121913608
gopubmedrs121913608
geneviewrs121913608
scholarrs121913608
googlers121913608
pharmgkbrs121913608
gwascentralrs121913608
openSNPrs121913608
23andMers121913608
23andMe allrs121913608
SNP Nexus

SNPshotrs121913608
SNPdbers121913608
MSV3drs121913608
GWAS Ctlgrs121913608
Max Magnitude0
OMIM159440
Desc
Variant0033
Relatedalso
ClinVar
Risk rs121913608(A;A)
Alt rs121913608(A;A)
Reference rs121913608(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.161276579C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015262.26,