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rs281865121

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865121(C;C)
Make rs281865121(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161307403
GeneMPZ
is asnp
is mentioned by
dbSNPrs281865121
ebirs281865121
HLIrs281865121
Exacrs281865121
Varsomers281865121
Maprs281865121
PheGenIrs281865121
hapmaprs281865121
1000 genomesrs281865121
hgdprs281865121
ensemblrs281865121
gopubmedrs281865121
geneviewrs281865121
scholarrs281865121
googlers281865121
pharmgkbrs281865121
gwascentralrs281865121
openSNPrs281865121
23andMers281865121
23andMe allrs281865121
SNP Nexus

SNPshotrs281865121
SNPdbers281865121
MSV3drs281865121
GWAS Ctlgrs281865121
Max Magnitude0
ClinVar
Risk rs281865121(C;C)
Alt rs281865121(C;C)
Reference rs281865121(T;T)
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.161277193A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000033911.1,