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rs398122929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122929(A;A)
Make rs398122929(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position45089911
GeneKDM6A
is asnp
is mentioned by
dbSNPrs398122929
ebirs398122929
HLIrs398122929
Exacrs398122929
Varsomers398122929
Maprs398122929
PheGenIrs398122929
hapmaprs398122929
1000 genomesrs398122929
hgdprs398122929
ensemblrs398122929
gopubmedrs398122929
geneviewrs398122929
scholarrs398122929
googlers398122929
pharmgkbrs398122929
gwascentralrs398122929
openSNPrs398122929
23andMers398122929
23andMe allrs398122929
SNP Nexus

SNPshotrs398122929
SNPdbers398122929
MSV3drs398122929
GWAS Ctlgrs398122929
Max Magnitude0
ClinVar
Risk rs398122929(A;A)
Alt rs398122929(A;A)
Reference rs398122929(G;G)
Significance Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44949156G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033119.24,