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rs281865133

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865133(G;T)
Make rs281865133(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307328
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865133
ebirs281865133
HLIrs281865133
Exacrs281865133
Varsomers281865133
Maprs281865133
PheGenIrs281865133
hapmaprs281865133
1000 genomesrs281865133
hgdprs281865133
ensemblrs281865133
gopubmedrs281865133
geneviewrs281865133
scholarrs281865133
googlers281865133
pharmgkbrs281865133
gwascentralrs281865133
openSNPrs281865133
23andMers281865133
23andMe allrs281865133
SNP Nexus

SNPshotrs281865133
SNPdbers281865133
MSV3drs281865133
GWAS Ctlgrs281865133
Max Magnitude0
ClinVar
Risk rs281865133(A,T;A,T)
Alt rs281865133(A,T;A,T)
Reference rs281865133(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.161277118C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033922.1,