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rs863224886

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224886(C;T)
Make rs863224886(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position45090821
GeneKDM6A
is asnp
is mentioned by
dbSNPrs863224886
ebirs863224886
HLIrs863224886
Exacrs863224886
Varsomers863224886
Maprs863224886
PheGenIrs863224886
hapmaprs863224886
1000 genomesrs863224886
hgdprs863224886
ensemblrs863224886
gopubmedrs863224886
geneviewrs863224886
scholarrs863224886
googlers863224886
pharmgkbrs863224886
gwascentralrs863224886
openSNPrs863224886
23andMers863224886
23andMe allrs863224886
SNP Nexus

SNPshotrs863224886
SNPdbers863224886
MSV3drs863224886
GWAS Ctlgrs863224886
Max Magnitude0
ClinVar
Risk rs863224886(T;T)
Alt rs863224886(T;T)
Reference rs863224886(C;C)
Significance Probable-Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44950066C>T
CLNSRC
CLNACC RCV000197668.1,