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rs281865127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865127(A;G)
Make rs281865127(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306767
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865127
ebirs281865127
HLIrs281865127
Exacrs281865127
Varsomers281865127
Maprs281865127
PheGenIrs281865127
hapmaprs281865127
1000 genomesrs281865127
hgdprs281865127
ensemblrs281865127
gopubmedrs281865127
geneviewrs281865127
scholarrs281865127
googlers281865127
pharmgkbrs281865127
gwascentralrs281865127
openSNPrs281865127
23andMers281865127
23andMe allrs281865127
SNP Nexus

SNPshotrs281865127
SNPdbers281865127
MSV3drs281865127
GWAS Ctlgrs281865127
Max Magnitude0
ClinVar
Risk rs281865127(G;G)
Alt rs281865127(G;G)
Reference rs281865127(A;A)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease not provided
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b not provided
Reversed 1
HGVS NC_000001.10:g.161276557T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000033918.1, RCV000177079.1,