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rs121913597

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913597(A;T)
Make rs121913597(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307268
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913597
ebirs121913597
HLIrs121913597
Exacrs121913597
Varsomers121913597
Maprs121913597
PheGenIrs121913597
hapmaprs121913597
1000 genomesrs121913597
hgdprs121913597
ensemblrs121913597
gopubmedrs121913597
geneviewrs121913597
scholarrs121913597
googlers121913597
pharmgkbrs121913597
gwascentralrs121913597
openSNPrs121913597
23andMers121913597
23andMe allrs121913597
SNP Nexus

SNPshotrs121913597
SNPdbers121913597
MSV3drs121913597
GWAS Ctlgrs121913597
Max Magnitude0
OMIM159440
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121913597(T;T)
Alt rs121913597(T;T)
Reference rs121913597(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease
Reversed 1
HGVS NC_000001.10:g.161277058T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015248.27, RCV000190346.1, RCV000192247.1,