rs1057516033

Orientation

plus

Stabilized

plus

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

Make rs1057516033(A;A)

Make rs1057516033(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

75025250

Gene

KAT6B

is a	snp
is	mentioned by
dbSNP	rs1057516033
dbSNP (classic)	rs1057516033
ClinGen	rs1057516033
ebi	rs1057516033
HLI	rs1057516033
Exac	rs1057516033
Gnomad	rs1057516033
Varsome	rs1057516033
LitVar	rs1057516033
Map	rs1057516033
PheGenI	rs1057516033
Biobank	rs1057516033
1000 genomes	rs1057516033
hgdp	rs1057516033
ensembl	rs1057516033
geneview	rs1057516033
scholar	rs1057516033
google	rs1057516033
pharmgkb	rs1057516033
gwascentral	rs1057516033
openSNP	rs1057516033
23andMe	rs1057516033
SNPshot	rs1057516033
SNPdbe	rs1057516033
MSV3d	rs1057516033
GWAS Ctlg	rs1057516033

Max Magnitude

0

ClinVar
Risk	rs1057516033(A;A)
Alt	rs1057516033(A;A)
Reference	Rs1057516033(G;G)
Significance	Pathogenic
Disease	Young Simpson syndrome
Variation	info
Gene	KAT6B
CLNDBN	Young Simpson syndrome
Reversed	0
HGVS	NC_000010.10:g.76785008G>A
CLNSRC
CLNACC	RCV000408626.1,