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rs387907362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907362(A;A)
Make rs387907362(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71136440
GeneMED12
is asnp
is mentioned by
dbSNPrs387907362
ebirs387907362
HLIrs387907362
Exacrs387907362
Varsomers387907362
Maprs387907362
PheGenIrs387907362
hapmaprs387907362
1000 genomesrs387907362
hgdprs387907362
ensemblrs387907362
gopubmedrs387907362
geneviewrs387907362
scholarrs387907362
googlers387907362
pharmgkbrs387907362
gwascentralrs387907362
openSNPrs387907362
23andMers387907362
23andMe allrs387907362
SNP Nexus

SNPshotrs387907362
SNPdbers387907362
MSV3drs387907362
GWAS Ctlgrs387907362
Max Magnitude0
ClinVar
Risk rs387907362(A;A)
Alt rs387907362(A;A)
Reference rs387907362(C;C)
Significance Pathogenic
Disease Ohdo syndrome
Variation info
Gene MED12
CLNDBN Ohdo syndrome, X-linked
Reversed 0
HGVS NC_000023.10:g.70356290C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043501.27,