rs1057518789

Orientation

minus

Stabilized

minus

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

Make rs1057518789(C;T)

Make rs1057518789(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

3728803

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs1057518789
dbSNP (classic)	rs1057518789
ClinGen	rs1057518789
ebi	rs1057518789
HLI	rs1057518789
Exac	rs1057518789
Gnomad	rs1057518789
Varsome	rs1057518789
LitVar	rs1057518789
Map	rs1057518789
PheGenI	rs1057518789
Biobank	rs1057518789
1000 genomes	rs1057518789
hgdp	rs1057518789
ensembl	rs1057518789
geneview	rs1057518789
scholar	rs1057518789
google	rs1057518789
pharmgkb	rs1057518789
gwascentral	rs1057518789
openSNP	rs1057518789
23andMe	rs1057518789
SNPshot	rs1057518789
SNPdbe	rs1057518789
MSV3d	rs1057518789
GWAS Ctlg	rs1057518789

Max Magnitude

0

ClinVar
Risk	rs1057518789(T;T)
Alt	rs1057518789(T;T)
Reference	Rs1057518789(C;C)
Significance	Probable-Pathogenic
Disease	Global developmental delay Scoliosis
Variation	info
Gene	CREBBP
CLNDBN	Global developmental delay Scoliosis
Reversed	1
HGVS	NC_000016.9:g.3778804G>A
CLNSRC
CLNACC	RCV000414795.1,