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rs398122829

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs398122829(-;-)
Make rs398122829(-;TCT)
ReferenceGRCh38 38.1/141
ChromosomeX
Position45083529
GeneKDM6A
is asnp
is mentioned by
dbSNPrs398122829
ebirs398122829
HLIrs398122829
Exacrs398122829
Varsomers398122829
Maprs398122829
PheGenIrs398122829
hapmaprs398122829
1000 genomesrs398122829
hgdprs398122829
ensemblrs398122829
gopubmedrs398122829
geneviewrs398122829
scholarrs398122829
googlers398122829
pharmgkbrs398122829
gwascentralrs398122829
openSNPrs398122829
23andMers398122829
23andMe allrs398122829
SNP Nexus

SNPshotrs398122829
SNPdbers398122829
MSV3drs398122829
GWAS Ctlgrs398122829
Max Magnitude0
ClinVar
Risk rs398122829(;)
Alt rs398122829(;)
Reference rs398122829(TCT;TCT)
Significance Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44942774_44942776delTCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000033121.25,