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rs199470476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199470476(G;T)
Make rs199470476(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position75028893
GeneKAT6B
is asnp
is mentioned by
dbSNPrs199470476
ebirs199470476
HLIrs199470476
Exacrs199470476
Varsomers199470476
Maprs199470476
PheGenIrs199470476
hapmaprs199470476
1000 genomesrs199470476
hgdprs199470476
ensemblrs199470476
gopubmedrs199470476
geneviewrs199470476
scholarrs199470476
googlers199470476
pharmgkbrs199470476
gwascentralrs199470476
openSNPrs199470476
23andMers199470476
23andMe allrs199470476
SNP Nexus

SNPshotrs199470476
SNPdbers199470476
MSV3drs199470476
GWAS Ctlgrs199470476
Max Magnitude0
ClinVar
Risk rs199470476(T;T)
Alt rs199470476(T;T)
Reference rs199470476(G;G)
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.76788651G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023485.4, RCV000128651.1,


[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.