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rs281865126

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865126(G;T)
Make rs281865126(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306819
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865126
ebirs281865126
HLIrs281865126
Exacrs281865126
Varsomers281865126
Maprs281865126
PheGenIrs281865126
hapmaprs281865126
1000 genomesrs281865126
hgdprs281865126
ensemblrs281865126
gopubmedrs281865126
geneviewrs281865126
scholarrs281865126
googlers281865126
pharmgkbrs281865126
gwascentralrs281865126
openSNPrs281865126
23andMers281865126
23andMe allrs281865126
SNP Nexus

SNPshotrs281865126
SNPdbers281865126
MSV3drs281865126
GWAS Ctlgrs281865126
Max Magnitude0
ClinVar
Risk rs281865126(T;T)
Alt rs281865126(T;T)
Reference rs281865126(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.161276609C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033917.1, RCV000194363.1,