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rs281865125

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865125(-;-)
Make rs281865125(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306850
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865125
ebirs281865125
HLIrs281865125
Exacrs281865125
Varsomers281865125
Maprs281865125
PheGenIrs281865125
hapmaprs281865125
1000 genomesrs281865125
hgdprs281865125
ensemblrs281865125
gopubmedrs281865125
geneviewrs281865125
scholarrs281865125
googlers281865125
pharmgkbrs281865125
gwascentralrs281865125
openSNPrs281865125
23andMers281865125
23andMe allrs281865125
SNP Nexus

SNPshotrs281865125
SNPdbers281865125
MSV3drs281865125
GWAS Ctlgrs281865125
Max Magnitude0
ClinVar
Risk rs281865125(;)
Alt rs281865125(;)
Reference rs281865125(A;A)
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.161276640delT
CLNSRC ClinVar GeneReviews
CLNACC RCV000033916.1,