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rs267607246

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607246(C;G)
Make rs267607246(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306427
GeneMPZ
is asnp
is mentioned by
dbSNPrs267607246
ebirs267607246
HLIrs267607246
Exacrs267607246
Varsomers267607246
Maprs267607246
PheGenIrs267607246
hapmaprs267607246
1000 genomesrs267607246
hgdprs267607246
ensemblrs267607246
gopubmedrs267607246
geneviewrs267607246
scholarrs267607246
googlers267607246
pharmgkbrs267607246
gwascentralrs267607246
openSNPrs267607246
23andMers267607246
23andMe allrs267607246
SNP Nexus

SNPshotrs267607246
SNPdbers267607246
MSV3drs267607246
GWAS Ctlgrs267607246
Max Magnitude0
ClinVar
Risk rs267607246(G;G)
Alt rs267607246(G;G)
Reference rs267607246(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2I
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease type 2I
Reversed 1
HGVS NC_000001.10:g.161276217G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015246.25,