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rs199470477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs199470477(-;-)
Make rs199470477(-;CT)
ReferenceGRCh38 38.1/141
Chromosome10
Position75029029
GeneKAT6B
is asnp
is mentioned by
dbSNPrs199470477
ebirs199470477
HLIrs199470477
Exacrs199470477
Varsomers199470477
Maprs199470477
PheGenIrs199470477
hapmaprs199470477
1000 genomesrs199470477
hgdprs199470477
ensemblrs199470477
gopubmedrs199470477
geneviewrs199470477
scholarrs199470477
googlers199470477
pharmgkbrs199470477
gwascentralrs199470477
openSNPrs199470477
23andMers199470477
23andMe allrs199470477
SNP Nexus

SNPshotrs199470477
SNPdbers199470477
MSV3drs199470477
GWAS Ctlgrs199470477
Max Magnitude0
ClinVar
Risk rs199470477(;)
Alt rs199470477(;)
Reference rs199470477(CT;CT)
Significance Pathogenic
Disease Young Simpson syndrome not provided
Variation info
Gene KAT6B
CLNDBN Young Simpson syndrome not provided
Reversed 0
HGVS NC_000010.10:g.76788787_76788788delCT
CLNSRC ClinVar GeneReviews
CLNACC RCV000032258.1, RCV000128652.1,


[PMID 22077973OA-icon.png] Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.