rs587783473

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(I;I)	0	common genotype
(TC;TC)	0	common in clinvar

Make rs587783473(-;-)

Make rs587783473(-;TC)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3770843

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783473
dbSNP (classic)	rs587783473
ClinGen	rs587783473
ebi	rs587783473
HLI	rs587783473
Exac	rs587783473
Gnomad	rs587783473
Varsome	rs587783473
LitVar	rs587783473
Map	rs587783473
PheGenI	rs587783473
Biobank	rs587783473
1000 genomes	rs587783473
hgdp	rs587783473
ensembl	rs587783473
geneview	rs587783473
scholar	rs587783473
google	rs587783473
pharmgkb	rs587783473
gwascentral	rs587783473
openSNP	rs587783473
23andMe	rs587783473
SNPshot	rs587783473
SNPdbe	rs587783473
MSV3d	rs587783473
GWAS Ctlg	rs587783473

Max Magnitude

0

ClinVar
Risk	rs587783473(-;-)
Alt	rs587783473(-;-)
Reference	Rs587783473(TC;TC)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3820844_3820845delGA
CLNSRC
CLNACC	RCV000145726.1,