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rs281865132

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865132(C;T)
Make rs281865132(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161305974
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865132
ebirs281865132
HLIrs281865132
Exacrs281865132
Varsomers281865132
Maprs281865132
PheGenIrs281865132
hapmaprs281865132
1000 genomesrs281865132
hgdprs281865132
ensemblrs281865132
gopubmedrs281865132
geneviewrs281865132
scholarrs281865132
googlers281865132
pharmgkbrs281865132
gwascentralrs281865132
openSNPrs281865132
23andMers281865132
23andMe allrs281865132
SNP Nexus

SNPshotrs281865132
SNPdbers281865132
MSV3drs281865132
GWAS Ctlgrs281865132
Max Magnitude0
ClinVar
Risk rs281865132(T;T)
Alt rs281865132(T;T)
Reference rs281865132(C;C)
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.161275764G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033925.1,