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rs199470470

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTA;TCTA) 0 common in clinvar
Make rs199470470(-;-)
Make rs199470470(-;TCTA)
ReferenceGRCh38 38.1/141
Chromosome10
Position75028593
GeneKAT6B
is asnp
is mentioned by
dbSNPrs199470470
ebirs199470470
HLIrs199470470
Exacrs199470470
Varsomers199470470
Maprs199470470
PheGenIrs199470470
hapmaprs199470470
1000 genomesrs199470470
hgdprs199470470
ensemblrs199470470
gopubmedrs199470470
geneviewrs199470470
scholarrs199470470
googlers199470470
pharmgkbrs199470470
gwascentralrs199470470
openSNPrs199470470
23andMers199470470
23andMe allrs199470470
SNP Nexus

SNPshotrs199470470
SNPdbers199470470
MSV3drs199470470
GWAS Ctlgrs199470470
Max Magnitude0
ClinVar
Risk rs199470470(;)
Alt rs199470470(;)
Reference rs199470470(TCTA;TCTA)
Significance Pathogenic
Disease Genitopatellar syndrome not provided
Variation info
Gene KAT6B
CLNDBN Genitopatellar syndrome not provided
Reversed 0
HGVS NC_000010.10:g.76788351_76788354delTCTA
CLNSRC OMIM Allelic Variant
CLNACC RCV000023487.5, RCV000128645.1,


[PMID 22265014OA-icon.png] Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.