rs28937315

Orientation

minus

Stabilized

minus

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

Make rs28937315(A;G)

Make rs28937315(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3757894

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs28937315
dbSNP (classic)	rs28937315
ClinGen	rs28937315
ebi	rs28937315
HLI	rs28937315
Exac	rs28937315
Gnomad	rs28937315
Varsome	rs28937315
LitVar	rs28937315
Map	rs28937315
PheGenI	rs28937315
Biobank	rs28937315
1000 genomes	rs28937315
hgdp	rs28937315
ensembl	rs28937315
geneview	rs28937315
scholar	rs28937315
google	rs28937315
pharmgkb	rs28937315
gwascentral	rs28937315
openSNP	rs28937315
23andMe	rs28937315
SNPshot	rs28937315
SNPdbe	rs28937315
MSV3d	rs28937315
GWAS Ctlg	rs28937315

Max Magnitude

0

OMIM	600140
Desc	RUBINSTEIN-TAYBI SYNDROME, INCOMPLETE
Variant	0005
Related	also

ClinVar
Risk	rs28937315(G;G)
Alt	rs28937315(G;G)
Reference	Rs28937315(A;A)
Significance	Pathogenic
Disease	Rubinstein-Taybi syndrome
Variation	info
Gene	CREBBP
CLNDBN	Rubinstein-Taybi syndrome
Reversed	1
HGVS	NC_000016.9:g.3807895T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010039.5,