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rs797045642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045642(-;-)
Make rs797045642(-;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position45063437
GeneKDM6A
is asnp
is mentioned by
dbSNPrs797045642
dbSNP (classic)rs797045642
ClinGenrs797045642
ebirs797045642
HLIrs797045642
Exacrs797045642
Gnomadrs797045642
Varsomers797045642
LitVarrs797045642
Maprs797045642
PheGenIrs797045642
Biobankrs797045642
1000 genomesrs797045642
hgdprs797045642
ensemblrs797045642
geneviewrs797045642
scholarrs797045642
googlers797045642
pharmgkbrs797045642
gwascentralrs797045642
openSNPrs797045642
23andMers797045642
SNPshotrs797045642
SNPdbers797045642
MSV3drs797045642
GWAS Ctlgrs797045642
Max Magnitude0
ClinVar
Risk rs797045642(-;-)
Alt rs797045642(-;-)
Reference Rs797045642(G;G)
Significance Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44922682delG
CLNSRC
CLNACC RCV000193284.1,