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

rs199470475

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199470475(G;T)
Make rs199470475(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position75028716
GeneKAT6B
is asnp
is mentioned by
dbSNPrs199470475
ebirs199470475
HLIrs199470475
Exacrs199470475
Varsomers199470475
Maprs199470475
PheGenIrs199470475
hapmaprs199470475
1000 genomesrs199470475
hgdprs199470475
ensemblrs199470475
gopubmedrs199470475
geneviewrs199470475
scholarrs199470475
googlers199470475
pharmgkbrs199470475
gwascentralrs199470475
openSNPrs199470475
23andMers199470475
23andMe allrs199470475
SNP Nexus

SNPshotrs199470475
SNPdbers199470475
MSV3drs199470475
GWAS Ctlgrs199470475
Max Magnitude0
ClinVar
Risk rs199470475(T;T)
Alt rs199470475(T;T)
Reference rs199470475(G;G)
Significance Pathogenic
Disease Genitopatellar syndrome not provided
Variation info
Gene KAT6B
CLNDBN Genitopatellar syndrome not provided
Reversed 0
HGVS NC_000010.10:g.76788474G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023489.4, RCV000128650.1,


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