rs199470475

Orientation

plus

Stabilized

plus

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

Make rs199470475(G;T)

Make rs199470475(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

75028716

Gene	DUPD1, KAT6B

is a	snp
is	mentioned by
dbSNP	rs199470475
dbSNP (classic)	rs199470475
ClinGen	rs199470475
ebi	rs199470475
HLI	rs199470475
Exac	rs199470475
Gnomad	rs199470475
Varsome	rs199470475
LitVar	rs199470475
Map	rs199470475
PheGenI	rs199470475
Biobank	rs199470475
1000 genomes	rs199470475
hgdp	rs199470475
ensembl	rs199470475
geneview	rs199470475
scholar	rs199470475
google	rs199470475
pharmgkb	rs199470475
gwascentral	rs199470475
openSNP	rs199470475
23andMe	rs199470475
SNPshot	rs199470475
SNPdbe	rs199470475
MSV3d	rs199470475
GWAS Ctlg	rs199470475

Max Magnitude

0

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