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

rs199470484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199470484(C;T)
Make rs199470484(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position75030213
GeneKAT6B
is asnp
is mentioned by
dbSNPrs199470484
ebirs199470484
HLIrs199470484
Exacrs199470484
Varsomers199470484
Maprs199470484
PheGenIrs199470484
hapmaprs199470484
1000 genomesrs199470484
hgdprs199470484
ensemblrs199470484
gopubmedrs199470484
geneviewrs199470484
scholarrs199470484
googlers199470484
pharmgkbrs199470484
gwascentralrs199470484
openSNPrs199470484
23andMers199470484
23andMe allrs199470484
SNP Nexus

SNPshotrs199470484
SNPdbers199470484
MSV3drs199470484
GWAS Ctlgrs199470484
Max Magnitude0
ClinVar
Risk rs199470484(T;T)
Alt rs199470484(T;T)
Reference rs199470484(C;C)
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.76789971C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000043512.3, RCV000128660.1,


[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.