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rs281865123

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281865123(C;T)
Make rs281865123(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306915
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865123
ebirs281865123
HLIrs281865123
Exacrs281865123
Varsomers281865123
Maprs281865123
PheGenIrs281865123
hapmaprs281865123
1000 genomesrs281865123
hgdprs281865123
ensemblrs281865123
gopubmedrs281865123
geneviewrs281865123
scholarrs281865123
googlers281865123
pharmgkbrs281865123
gwascentralrs281865123
openSNPrs281865123
23andMers281865123
23andMe allrs281865123
SNP Nexus

SNPshotrs281865123
SNPdbers281865123
MSV3drs281865123
GWAS Ctlgrs281865123
Max Magnitude0
ClinVar
Risk rs281865123(T;T)
Alt rs281865123(T;T)
Reference rs281865123(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.161276705G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033913.1, RCV000194363.1,