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rs267607243

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607243(A;A)
Make rs267607243(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306774
GeneMPZ
is asnp
is mentioned by
dbSNPrs267607243
ebirs267607243
HLIrs267607243
Exacrs267607243
Varsomers267607243
Maprs267607243
PheGenIrs267607243
hapmaprs267607243
1000 genomesrs267607243
hgdprs267607243
ensemblrs267607243
gopubmedrs267607243
geneviewrs267607243
scholarrs267607243
googlers267607243
pharmgkbrs267607243
gwascentralrs267607243
openSNPrs267607243
23andMers267607243
23andMe allrs267607243
SNP Nexus

SNPshotrs267607243
SNPdbers267607243
MSV3drs267607243
GWAS Ctlgrs267607243
Max Magnitude0
ClinVar
Risk rs267607243(A;A)
Alt rs267607243(A;A)
Reference rs267607243(G;G)
Significance Pathogenic
Disease Dejerine-sottas syndrome
Variation info
Gene MPZ
CLNDBN Dejerine-sottas syndrome, sporadic
Reversed 1
HGVS NC_000001.10:g.161276564C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015243.22,