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rs121913603

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913603(A;C)
Make rs121913603(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306722
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913603
ebirs121913603
HLIrs121913603
Exacrs121913603
Varsomers121913603
Maprs121913603
PheGenIrs121913603
hapmaprs121913603
1000 genomesrs121913603
hgdprs121913603
ensemblrs121913603
gopubmedrs121913603
geneviewrs121913603
scholarrs121913603
googlers121913603
pharmgkbrs121913603
gwascentralrs121913603
openSNPrs121913603
23andMers121913603
23andMe allrs121913603
SNP Nexus

SNPshotrs121913603
SNPdbers121913603
MSV3drs121913603
GWAS Ctlgrs121913603
Max Magnitude0
OMIM159440
Desc
Variant0026
Relatedalso
ClinVar
Risk rs121913603(C;C)
Alt rs121913603(C;C)
Reference rs121913603(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease not provided
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease, type I not provided
Reversed 1
HGVS NC_000001.10:g.161276512T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015255.25, RCV000234112.1, RCV000235936.1,