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rs267607241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607241(C;C)
Make rs267607241(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306815
GeneMPZ
is asnp
is mentioned by
dbSNPrs267607241
ebirs267607241
HLIrs267607241
Exacrs267607241
Varsomers267607241
Maprs267607241
PheGenIrs267607241
hapmaprs267607241
1000 genomesrs267607241
hgdprs267607241
ensemblrs267607241
gopubmedrs267607241
geneviewrs267607241
scholarrs267607241
googlers267607241
pharmgkbrs267607241
gwascentralrs267607241
openSNPrs267607241
23andMers267607241
23andMe allrs267607241
SNP Nexus

SNPshotrs267607241
SNPdbers267607241
MSV3drs267607241
GWAS Ctlgrs267607241
Max Magnitude0
ClinVar
Risk rs267607241(C;C)
Alt rs267607241(C;C)
Reference rs267607241(T;T)
Significance Pathogenic
Disease Dejerine-sottas syndrome
Variation info
Gene MPZ
CLNDBN Dejerine-sottas syndrome, sporadic
Reversed 1
HGVS NC_000001.10:g.161276605A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015243.22,