Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865124

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865124(C;C)
Make rs281865124(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306912
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865124
ebirs281865124
HLIrs281865124
Exacrs281865124
Varsomers281865124
Maprs281865124
PheGenIrs281865124
hapmaprs281865124
1000 genomesrs281865124
hgdprs281865124
ensemblrs281865124
gopubmedrs281865124
geneviewrs281865124
scholarrs281865124
googlers281865124
pharmgkbrs281865124
gwascentralrs281865124
openSNPrs281865124
23andMers281865124
23andMe allrs281865124
SNP Nexus

SNPshotrs281865124
SNPdbers281865124
MSV3drs281865124
GWAS Ctlgrs281865124
Max Magnitude0
ClinVar
Risk rs281865124(C;C)
Alt rs281865124(C;C)
Reference rs281865124(T;T)
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.161276702A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000033914.1,