rs587783486

Orientation

minus

Stabilized

minus

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

Make rs587783486(A;G)

Make rs587783486(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

3740551

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs587783486
dbSNP (classic)	rs587783486
ClinGen	rs587783486
ebi	rs587783486
HLI	rs587783486
Exac	rs587783486
Gnomad	rs587783486
Varsome	rs587783486
LitVar	rs587783486
Map	rs587783486
PheGenI	rs587783486
Biobank	rs587783486
1000 genomes	rs587783486
hgdp	rs587783486
ensembl	rs587783486
geneview	rs587783486
scholar	rs587783486
google	rs587783486
pharmgkb	rs587783486
gwascentral	rs587783486
openSNP	rs587783486
23andMe	rs587783486
SNPshot	rs587783486
SNPdbe	rs587783486
MSV3d	rs587783486
GWAS Ctlg	rs587783486

Max Magnitude

0

ClinVar
Risk	rs587783486(G;G)
Alt	rs587783486(G;G)
Reference	Rs587783486(A;A)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3790552T>C
CLNSRC
CLNACC	RCV000145744.1,