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rs121913596

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913596(G;T)
Make rs121913596(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307389
GeneMPZ
is asnp
is mentioned by
dbSNPrs121913596
ebirs121913596
HLIrs121913596
Exacrs121913596
Varsomers121913596
Maprs121913596
PheGenIrs121913596
hapmaprs121913596
1000 genomesrs121913596
hgdprs121913596
ensemblrs121913596
gopubmedrs121913596
geneviewrs121913596
scholarrs121913596
googlers121913596
pharmgkbrs121913596
gwascentralrs121913596
openSNPrs121913596
23andMers121913596
23andMe allrs121913596
SNP Nexus

SNPshotrs121913596
SNPdbers121913596
MSV3drs121913596
GWAS Ctlgrs121913596
Max Magnitude0
OMIM159440
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121913596(T;T)
Alt rs121913596(T;T)
Reference rs121913596(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease dominant intermediate 3
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease dominant intermediate 3
Reversed 1
HGVS NC_000001.10:g.161277179C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015247.27,