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rs121913583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121913583(A;G)
Make rs121913583(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306870
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913583
ebirs121913583
HLIrs121913583
Exacrs121913583
Varsomers121913583
Maprs121913583
PheGenIrs121913583
hapmaprs121913583
1000 genomesrs121913583
hgdprs121913583
ensemblrs121913583
gopubmedrs121913583
geneviewrs121913583
scholarrs121913583
googlers121913583
pharmgkbrs121913583
gwascentralrs121913583
openSNPrs121913583
23andMers121913583
23andMe allrs121913583
SNP Nexus

SNPshotrs121913583
SNPdbers121913583
MSV3drs121913583
GWAS Ctlgrs121913583
Max Magnitude0
OMIM159440
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121913583(G;G)
Alt rs121913583(G;G)
Reference rs121913583(A;A)
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.161276660T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015229.26,