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

rs863224883

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs863224883(-;-)
Make rs863224883(-;AA)
ReferenceGRCh38.p2 38.2/146
Chromosome10
Position75028786
GeneDUPD1, KAT6B
is asnp
is mentioned by
dbSNPrs863224883
dbSNP (old)rs863224883
ClinGenrs863224883
ebirs863224883
HLIrs863224883
Exacrs863224883
Varsomers863224883
Maprs863224883
PheGenIrs863224883
Biobankrs863224883
1000 genomesrs863224883
hgdprs863224883
ensemblrs863224883
gopubmedrs863224883
geneviewrs863224883
scholarrs863224883
googlers863224883
pharmgkbrs863224883
gwascentralrs863224883
openSNPrs863224883
23andMers863224883
23andMe allrs863224883
SNP Nexus

SNPshotrs863224883
SNPdbers863224883
MSV3drs863224883
GWAS Ctlgrs863224883
Max Magnitude0
ClinVar
Risk rs863224883(-;-)
Alt rs863224883(-;-)
Reference Rs863224883(AA;AA)
Significance Probable-Pathogenic
Disease Young Simpson syndrome
Variation info
Gene KAT6B
CLNDBN Young Simpson syndrome
Reversed 0
HGVS NC_000010.10:g.76788544_76788545delAA
CLNSRC
CLNACC RCV000195677.1,