rs199470477

plus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar

Make rs199470477(-;-)

Make rs199470477(-;CT)

Reference

GRCh38 38.1/141

Chromosome

10

Position

75029029

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470477
dbSNP (classic)	rs199470477
ClinGen	rs199470477
ebi	rs199470477
HLI	rs199470477
Exac	rs199470477
Gnomad	rs199470477
Varsome	rs199470477
LitVar	rs199470477
Map	rs199470477
PheGenI	rs199470477
Biobank	rs199470477
1000 genomes	rs199470477
hgdp	rs199470477
ensembl	rs199470477
geneview	rs199470477
scholar	rs199470477
google	rs199470477
pharmgkb	rs199470477
gwascentral	rs199470477
openSNP	rs199470477
23andMe	rs199470477
SNPshot	rs199470477
SNPdbe	rs199470477
MSV3d	rs199470477
GWAS Ctlg	rs199470477

Max Magnitude

0

ClinVar
Risk	rs199470477(-;-)
Alt	rs199470477(-;-)
Reference	Rs199470477(CT;CT)
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.76788787_76788788delCT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000032258.1, RCV000128652.2,

[PMID 22077973 ] Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.