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rs267607242

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607242(A;C)
Make rs267607242(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306810
GeneMPZ
is asnp
is mentioned by
dbSNPrs267607242
ebirs267607242
HLIrs267607242
Exacrs267607242
Varsomers267607242
Maprs267607242
PheGenIrs267607242
hapmaprs267607242
1000 genomesrs267607242
hgdprs267607242
ensemblrs267607242
gopubmedrs267607242
geneviewrs267607242
scholarrs267607242
googlers267607242
pharmgkbrs267607242
gwascentralrs267607242
openSNPrs267607242
23andMers267607242
23andMe allrs267607242
SNP Nexus

SNPshotrs267607242
SNPdbers267607242
MSV3drs267607242
GWAS Ctlgrs267607242
Max Magnitude0
ClinVar
Risk rs267607242(C;C)
Alt rs267607242(C;C)
Reference rs267607242(A;A)
Significance Pathogenic
Disease Dejerine-sottas syndrome
Variation info
Gene MPZ
CLNDBN Dejerine-sottas syndrome, sporadic
Reversed 1
HGVS NC_000001.10:g.161276600T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015243.22,