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rs793888510

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs793888510(C;C)
Make rs793888510(C;T)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position45089932
GeneKDM6A
is asnp
is mentioned by
dbSNPrs793888510
ebirs793888510
HLIrs793888510
Exacrs793888510
Varsomers793888510
Maprs793888510
PheGenIrs793888510
hapmaprs793888510
1000 genomesrs793888510
hgdprs793888510
ensemblrs793888510
gopubmedrs793888510
geneviewrs793888510
scholarrs793888510
googlers793888510
pharmgkbrs793888510
gwascentralrs793888510
openSNPrs793888510
23andMers793888510
23andMe allrs793888510
SNP Nexus

SNPshotrs793888510
SNPdbers793888510
MSV3drs793888510
GWAS Ctlgrs793888510
Max Magnitude0
ClinVar
Risk rs793888510(C;C)
Alt rs793888510(C;C)
Reference rs793888510(T;T)
Significance Probable-Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44949177T>C
CLNSRC
CLNACC RCV000172946.1,