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rs793888509

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs793888509(A;A)
Make rs793888509(A;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position45053832
GeneKDM6A
is asnp
is mentioned by
dbSNPrs793888509
ebirs793888509
HLIrs793888509
Exacrs793888509
Varsomers793888509
Maprs793888509
PheGenIrs793888509
hapmaprs793888509
1000 genomesrs793888509
hgdprs793888509
ensemblrs793888509
gopubmedrs793888509
geneviewrs793888509
scholarrs793888509
googlers793888509
pharmgkbrs793888509
gwascentralrs793888509
openSNPrs793888509
23andMers793888509
23andMe allrs793888509
SNP Nexus

SNPshotrs793888509
SNPdbers793888509
MSV3drs793888509
GWAS Ctlgrs793888509
Max Magnitude0
ClinVar
Risk rs793888509(A;A)
Alt rs793888509(A;A)
Reference rs793888509(G;G)
Significance Probable-Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44913077G>A
CLNSRC
CLNACC RCV000172945.1,