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rs121913606

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913606(A;T)
Make rs121913606(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306866
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913606
ebirs121913606
HLIrs121913606
Exacrs121913606
Varsomers121913606
Maprs121913606
PheGenIrs121913606
hapmaprs121913606
1000 genomesrs121913606
hgdprs121913606
ensemblrs121913606
gopubmedrs121913606
geneviewrs121913606
scholarrs121913606
googlers121913606
pharmgkbrs121913606
gwascentralrs121913606
openSNPrs121913606
23andMers121913606
23andMe allrs121913606
SNP Nexus

SNPshotrs121913606
SNPdbers121913606
MSV3drs121913606
GWAS Ctlgrs121913606
Max Magnitude0
OMIM159440
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121913606(T;T)
Alt rs121913606(T;T)
Reference rs121913606(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2J
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease type 2J
Reversed 1
HGVS NC_000001.10:g.161276656T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015259.26,