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rs199470473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199470473(G;T)
Make rs199470473(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position75028626
GeneKAT6B
is asnp
is mentioned by
dbSNPrs199470473
ebirs199470473
HLIrs199470473
Exacrs199470473
Varsomers199470473
Maprs199470473
PheGenIrs199470473
hapmaprs199470473
1000 genomesrs199470473
hgdprs199470473
ensemblrs199470473
gopubmedrs199470473
geneviewrs199470473
scholarrs199470473
googlers199470473
pharmgkbrs199470473
gwascentralrs199470473
openSNPrs199470473
23andMers199470473
23andMe allrs199470473
SNP Nexus

SNPshotrs199470473
SNPdbers199470473
MSV3drs199470473
GWAS Ctlgrs199470473
Max Magnitude0
ClinVar
Risk rs199470473(A;A) rs199470473(T;T)
Alt rs199470473(A;A) rs199470473(T;T)
Reference Rs199470473(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.76788384G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023490.5, RCV000128648.1,


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