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rs387907361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907361(C;C)
Make rs387907361(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71129131
GeneMED12
is asnp
is mentioned by
dbSNPrs387907361
ebirs387907361
HLIrs387907361
Exacrs387907361
Varsomers387907361
Maprs387907361
PheGenIrs387907361
hapmaprs387907361
1000 genomesrs387907361
hgdprs387907361
ensemblrs387907361
gopubmedrs387907361
geneviewrs387907361
scholarrs387907361
googlers387907361
pharmgkbrs387907361
gwascentralrs387907361
openSNPrs387907361
23andMers387907361
23andMe allrs387907361
SNP Nexus

SNPshotrs387907361
SNPdbers387907361
MSV3drs387907361
GWAS Ctlgrs387907361
Max Magnitude0
ClinVar
Risk rs387907361(C;C)
Alt rs387907361(C;C)
Reference rs387907361(T;T)
Significance Pathogenic
Disease Ohdo syndrome
Variation info
Gene MED12
CLNDBN Ohdo syndrome, X-linked
Reversed 0
HGVS NC_000023.10:g.70348981T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000043500.24,