rs1057516049

Orientation

minus

Stabilized

minus

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

Make rs1057516049(-;-)

Make rs1057516049(-;TGAG)

Reference

GRCh38.p7 38.3/150

Chromosome

8

Position

41933963

Gene

KAT6A

is a	snp
is	mentioned by
dbSNP	rs1057516049
dbSNP (classic)	rs1057516049
ClinGen	rs1057516049
ebi	rs1057516049
HLI	rs1057516049
Exac	rs1057516049
Gnomad	rs1057516049
Varsome	rs1057516049
LitVar	rs1057516049
Map	rs1057516049
PheGenI	rs1057516049
Biobank	rs1057516049
1000 genomes	rs1057516049
hgdp	rs1057516049
ensembl	rs1057516049
geneview	rs1057516049
scholar	rs1057516049
google	rs1057516049
pharmgkb	rs1057516049
gwascentral	rs1057516049
openSNP	rs1057516049
23andMe	rs1057516049
SNPshot	rs1057516049
SNPdbe	rs1057516049
MSV3d	rs1057516049
GWAS Ctlg	rs1057516049

Max Magnitude

0

ClinVar
Risk	rs1057516049(-;-)
Alt	rs1057516049(-;-)
Reference	Rs1057516049(TGAG;TGAG)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	KAT6A
CLNDBN	Mental retardation, autosomal dominant 32
Reversed	1
HGVS	NC_000008.10:g.41791481_41791484delCTCA
CLNSRC
CLNACC	RCV000408607.1,