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rs281865129

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281865129(-;-)
Make rs281865129(-;T)
Make rs281865129(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306164
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865129
ebirs281865129
HLIrs281865129
Exacrs281865129
Varsomers281865129
Maprs281865129
PheGenIrs281865129
hapmaprs281865129
1000 genomesrs281865129
hgdprs281865129
ensemblrs281865129
gopubmedrs281865129
geneviewrs281865129
scholarrs281865129
googlers281865129
pharmgkbrs281865129
gwascentralrs281865129
openSNPrs281865129
23andMers281865129
23andMe allrs281865129
SNP Nexus

SNPshotrs281865129
SNPdbers281865129
MSV3drs281865129
GWAS Ctlgrs281865129
Max Magnitude0
ClinVar
Risk rs281865129(T;T)
Alt rs281865129(T;T)
Reference rs281865129(;)
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.161275955dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000033920.1,