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rs387907360

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907360(A;A)
Make rs387907360(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position71128686
GeneMED12
is asnp
is mentioned by
dbSNPrs387907360
ebirs387907360
HLIrs387907360
Exacrs387907360
Varsomers387907360
Maprs387907360
PheGenIrs387907360
hapmaprs387907360
1000 genomesrs387907360
hgdprs387907360
ensemblrs387907360
gopubmedrs387907360
geneviewrs387907360
scholarrs387907360
googlers387907360
pharmgkbrs387907360
gwascentralrs387907360
openSNPrs387907360
23andMers387907360
23andMe allrs387907360
SNP Nexus

SNPshotrs387907360
SNPdbers387907360
MSV3drs387907360
GWAS Ctlgrs387907360
Max Magnitude0
ClinVar
Risk rs387907360(A;A)
Alt rs387907360(A;A)
Reference rs387907360(G;G)
Significance Pathogenic
Disease Ohdo syndrome
Variation info
Gene MED12
CLNDBN Ohdo syndrome, X-linked
Reversed 0
HGVS NC_000023.10:g.70348536G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000043499.13,