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rs786205676

From SNPedia

Orientationplus
Geno Mag Summary
(ACAA;ACAA) 0 common in clinvar
Make rs786205676(-;-)
Make rs786205676(-;AACA)
Make rs786205676(AACA;AACA)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position45070170
GeneKDM6A
is asnp
is mentioned by
dbSNPrs786205676
ebirs786205676
HLIrs786205676
Exacrs786205676
Varsomers786205676
Maprs786205676
PheGenIrs786205676
hapmaprs786205676
1000 genomesrs786205676
hgdprs786205676
ensemblrs786205676
gopubmedrs786205676
geneviewrs786205676
scholarrs786205676
googlers786205676
pharmgkbrs786205676
gwascentralrs786205676
openSNPrs786205676
23andMers786205676
23andMe allrs786205676
SNP Nexus

SNPshotrs786205676
SNPdbers786205676
MSV3drs786205676
GWAS Ctlgrs786205676
Max Magnitude0
ClinVar
Risk rs786205676(;)
Alt rs786205676(;)
Reference rs786205676(ACAA;ACAA)
Significance Pathogenic
Disease Kabuki syndrome 2
Variation info
Gene KDM6A
CLNDBN Kabuki syndrome 2
Reversed 0
HGVS NC_000023.10:g.44929415_44929418delAACA
CLNSRC OMIM Allelic Variant
CLNACC RCV000170468.3,