rs199470482

plus

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

Make rs199470482(-;TGCTGCAGCA)

Make rs199470482(TGCTGCAGCA;TGCTGCAGCA)

Reference

GRCh38 38.1/141

Chromosome

10

Position

75030034

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470482
dbSNP (classic)	rs199470482
ClinGen	rs199470482
ebi	rs199470482
HLI	rs199470482
Exac	rs199470482
Gnomad	rs199470482
Varsome	rs199470482
LitVar	rs199470482
Map	rs199470482
PheGenI	rs199470482
Biobank	rs199470482
1000 genomes	rs199470482
hgdp	rs199470482
ensembl	rs199470482
geneview	rs199470482
scholar	rs199470482
google	rs199470482
pharmgkb	rs199470482
gwascentral	rs199470482
openSNP	rs199470482
23andMe	rs199470482
SNPshot	rs199470482
SNPdbe	rs199470482
MSV3d	rs199470482
GWAS Ctlg	rs199470482

Max Magnitude

0

ClinVar
Risk	rs199470482(GCTGCAGCAT;GCTGCAGCAT)
Alt	rs199470482(GCTGCAGCAT;GCTGCAGCAT)
Reference	Rs199470482(-;-)
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.76789783_76789792dupTGCTGCAGCA
CLNSRC	University Hospital of Geneva
CLNACC	RCV000032259.2, RCV000128657.1,

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