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rs281865130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281865130(A;G)
Make rs281865130(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306809
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865130
ebirs281865130
HLIrs281865130
Exacrs281865130
Varsomers281865130
Maprs281865130
PheGenIrs281865130
hapmaprs281865130
1000 genomesrs281865130
hgdprs281865130
ensemblrs281865130
gopubmedrs281865130
geneviewrs281865130
scholarrs281865130
googlers281865130
pharmgkbrs281865130
gwascentralrs281865130
openSNPrs281865130
23andMers281865130
23andMe allrs281865130
SNP Nexus

SNPshotrs281865130
SNPdbers281865130
MSV3drs281865130
GWAS Ctlgrs281865130
Max Magnitude0
ClinVar
Risk rs281865130(G;G)
Alt rs281865130(G;G)
Reference rs281865130(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.161276599T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000033923.1,