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rs267607244

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607244(A;A)
Make rs267607244(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position161306890
GeneMPZ
is asnp
is mentioned by
dbSNPrs267607244
ebirs267607244
HLIrs267607244
Exacrs267607244
Varsomers267607244
Maprs267607244
PheGenIrs267607244
hapmaprs267607244
1000 genomesrs267607244
hgdprs267607244
ensemblrs267607244
gopubmedrs267607244
geneviewrs267607244
scholarrs267607244
googlers267607244
pharmgkbrs267607244
gwascentralrs267607244
openSNPrs267607244
23andMers267607244
23andMe allrs267607244
SNP Nexus

SNPshotrs267607244
SNPdbers267607244
MSV3drs267607244
GWAS Ctlgrs267607244
Max Magnitude0
ClinVar
Risk rs267607244(A,C;A,C)
Alt rs267607244(A,C;A,C)
Reference rs267607244(T;T)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease type 2I
Variation info
Gene MPZ
CLNDBN Charcot-Marie-Tooth disease, demyelinating, type 1b Charcot-Marie-Tooth disease type 2I
Reversed 1
HGVS NC_000001.10:g.161276680A>G; NC_000001.10:g.161276680A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033915.2, RCV000015246.25,