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

rs281865131

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865131(G;T)
Make rs281865131(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306107
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865131
ebirs281865131
HLIrs281865131
Exacrs281865131
Varsomers281865131
Maprs281865131
PheGenIrs281865131
hapmaprs281865131
1000 genomesrs281865131
hgdprs281865131
ensemblrs281865131
gopubmedrs281865131
geneviewrs281865131
scholarrs281865131
googlers281865131
pharmgkbrs281865131
gwascentralrs281865131
openSNPrs281865131
23andMers281865131
23andMe allrs281865131
SNP Nexus

SNPshotrs281865131
SNPdbers281865131
MSV3drs281865131
GWAS Ctlgrs281865131
Max Magnitude0
ClinVar
Risk rs281865131(T;T)
Alt rs281865131(T;T)
Reference rs281865131(G;G)
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.161275897C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033924.1,