rs587783469

Orientation

minus

Stabilized

minus

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

Make rs587783469(-;-)

Make rs587783469(-;C)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3778098

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783469
dbSNP (classic)	rs587783469
ClinGen	rs587783469
ebi	rs587783469
HLI	rs587783469
Exac	rs587783469
Gnomad	rs587783469
Varsome	rs587783469
LitVar	rs587783469
Map	rs587783469
PheGenI	rs587783469
Biobank	rs587783469
1000 genomes	rs587783469
hgdp	rs587783469
ensembl	rs587783469
geneview	rs587783469
scholar	rs587783469
google	rs587783469
pharmgkb	rs587783469
gwascentral	rs587783469
openSNP	rs587783469
23andMe	rs587783469
SNPshot	rs587783469
SNPdbe	rs587783469
MSV3d	rs587783469
GWAS Ctlg	rs587783469

Max Magnitude

0

ClinVar
Risk	rs587783469(-;-)
Alt	rs587783469(-;-)
Reference	Rs587783469(C;C)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3828099delG
CLNSRC
CLNACC	RCV000145722.1,