rs199470470

Orientation

plus

Stabilized

plus

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

Make rs199470470(-;-)

Make rs199470470(-;TCTA)

Reference

GRCh38 38.1/141

Chromosome

10

Position

75028593

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470470
dbSNP (classic)	rs199470470
ClinGen	rs199470470
ebi	rs199470470
HLI	rs199470470
Exac	rs199470470
Gnomad	rs199470470
Varsome	rs199470470
LitVar	rs199470470
Map	rs199470470
PheGenI	rs199470470
Biobank	rs199470470
1000 genomes	rs199470470
hgdp	rs199470470
ensembl	rs199470470
geneview	rs199470470
scholar	rs199470470
google	rs199470470
pharmgkb	rs199470470
gwascentral	rs199470470
openSNP	rs199470470
23andMe	rs199470470
SNPshot	rs199470470
SNPdbe	rs199470470
MSV3d	rs199470470
GWAS Ctlg	rs199470470

Max Magnitude

0

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 22265014] Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.