Have questions? Visit https://www.reddit.com/r/SNPedia

rs398122969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTAT;CTAT) 0 common in clinvar
(TCTA;TCTA) 0 common in clinvar
Make rs398122969(-;-)
Make rs398122969(-;TCTA)
ReferenceGRCh38 38.1/141
ChromosomeX
Position45063803
GeneKDM6A
is asnp
is mentioned by
dbSNPrs398122969
ebirs398122969
HLIrs398122969
Exacrs398122969
Varsomers398122969
Maprs398122969
PheGenIrs398122969
hapmaprs398122969
1000 genomesrs398122969
hgdprs398122969
ensemblrs398122969
gopubmedrs398122969
geneviewrs398122969
scholarrs398122969
googlers398122969
pharmgkbrs398122969
gwascentralrs398122969
openSNPrs398122969
23andMers398122969
23andMe allrs398122969
SNP Nexus

SNPshotrs398122969
SNPdbers398122969
MSV3drs398122969
GWAS Ctlgrs398122969
Max Magnitude0
ClinVar
Risk rs398122969(;)
Alt rs398122969(;)
Reference rs398122969(CTAT;CTAT)
Significance Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44923048_44923051delTCTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000076920.3,