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rs267607247

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607247(G;T)
Make rs267607247(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161305953
GeneMPZ
is asnp
is mentioned by
dbSNPrs267607247
ebirs267607247
HLIrs267607247
Exacrs267607247
Varsomers267607247
Maprs267607247
PheGenIrs267607247
hapmaprs267607247
1000 genomesrs267607247
hgdprs267607247
ensemblrs267607247
gopubmedrs267607247
geneviewrs267607247
scholarrs267607247
googlers267607247
pharmgkbrs267607247
gwascentralrs267607247
openSNPrs267607247
23andMers267607247
23andMe allrs267607247
SNP Nexus

SNPshotrs267607247
SNPdbers267607247
MSV3drs267607247
GWAS Ctlgrs267607247
Max Magnitude0
ClinVar
Risk rs267607247(T;T)
Alt rs267607247(T;T)
Reference rs267607247(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.161275743C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000033921.1,