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rs199470482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199470482(-;-)
Make rs199470482(-;TGCTGCAGCA)
Make rs199470482(TGCTGCAGCA;TGCTGCAGCA)
ReferenceGRCh38 38.1/141
Chromosome10
Position75030034
GeneKAT6B
is asnp
is mentioned by
dbSNPrs199470482
ebirs199470482
HLIrs199470482
Exacrs199470482
Varsomers199470482
Maprs199470482
PheGenIrs199470482
hapmaprs199470482
1000 genomesrs199470482
hgdprs199470482
ensemblrs199470482
gopubmedrs199470482
geneviewrs199470482
scholarrs199470482
googlers199470482
pharmgkbrs199470482
gwascentralrs199470482
openSNPrs199470482
23andMers199470482
23andMe allrs199470482
SNP Nexus

SNPshotrs199470482
SNPdbers199470482
MSV3drs199470482
GWAS Ctlgrs199470482
Max Magnitude0
ClinVar
Risk rs199470482(GCTGCAGCAT;GCTGCAGCAT)
Alt rs199470482(GCTGCAGCAT;GCTGCAGCAT)
Reference rs199470482(;)
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.76789783_76789792dupTGCTGCAGCA
CLNSRC University Hospital of Geneva
CLNACC RCV000032259.2, RCV000128657.1,


[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.