rs1057518844

Orientation

minus

Stabilized

minus

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

Make rs1057518844(A;A)

Make rs1057518844(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

3757288

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs1057518844
dbSNP (classic)	rs1057518844
ClinGen	rs1057518844
ebi	rs1057518844
HLI	rs1057518844
Exac	rs1057518844
Gnomad	rs1057518844
Varsome	rs1057518844
LitVar	rs1057518844
Map	rs1057518844
PheGenI	rs1057518844
Biobank	rs1057518844
1000 genomes	rs1057518844
hgdp	rs1057518844
ensembl	rs1057518844
geneview	rs1057518844
scholar	rs1057518844
google	rs1057518844
pharmgkb	rs1057518844
gwascentral	rs1057518844
openSNP	rs1057518844
23andMe	rs1057518844
SNPshot	rs1057518844
SNPdbe	rs1057518844
MSV3d	rs1057518844
GWAS Ctlg	rs1057518844

Max Magnitude

0

ClinVar
Risk	rs1057518844(A;A)
Alt	rs1057518844(A;A)
Reference	Rs1057518844(G;G)
Significance	Probable-Pathogenic
Disease	Abnormality of the thumb Glaucoma
Variation	info
Gene	CREBBP
CLNDBN	Abnormality of the thumb Glaucoma
Reversed	1
HGVS	NC_000016.9:g.3807289C>T
CLNSRC
CLNACC	RCV000415361.1,