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rs797045643

From SNPedia

Orientationplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045643(-;T)
Make rs797045643(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position45076828
GeneKDM6A
is asnp
is mentioned by
dbSNPrs797045643
ClinGenrs797045643
ebirs797045643
HLIrs797045643
Exacrs797045643
Varsomers797045643
Maprs797045643
PheGenIrs797045643
hapmaprs797045643
1000 genomesrs797045643
hgdprs797045643
ensemblrs797045643
gopubmedrs797045643
geneviewrs797045643
scholarrs797045643
googlers797045643
pharmgkbrs797045643
gwascentralrs797045643
openSNPrs797045643
23andMers797045643
23andMe allrs797045643
SNP Nexus

SNPshotrs797045643
SNPdbers797045643
MSV3drs797045643
GWAS Ctlgrs797045643
Max Magnitude0
ClinVar
Risk rs797045643(T;T)
Alt rs797045643(T;T)
Reference Rs797045643(;)
Significance Probable-Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44936073dupT
CLNSRC
CLNACC RCV000194978.1,