{{Rsnum
|rsid=397514628
|Chromosome=X
|Orientation=plus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=KDM6A
|position=45063449
|Gene_s=KDM6A
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=T
|CHROM=X
|CLNACC=RCV000033120.16
|CLNALLE=1
|CLNDBN=Kabuki syndrome 2
|CLNDSDB=MedGen:OMIM:Orphanet
|CLNDSDBID=C3275495:300867:2322
|CLNHGVS=NC_000023.10:g.44922694C>T
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=300128.0003
|Disease=Kabuki syndrome 2
|FwdALT=T
|FwdREF=C
|GENEINFO=KDM6A:7403
|GENE_ID=7403
|GENE_NAME=KDM6A
|REF=C
|RSPOS=44922694
|Reversed=0
|SAO=0
|SSR=0
|Tags=PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=136
|rsid=397514628
}}