rs143247685

Orientation

plus

Stabilized

plus

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

Make rs143247685(C;C)

Make rs143247685(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

3770722

Gene

CREBBP

is a	snp
is	mentioned by
dbSNP	rs143247685
dbSNP (classic)	rs143247685
ClinGen	rs143247685
ebi	rs143247685
HLI	rs143247685
Exac	rs143247685
Gnomad	rs143247685
Varsome	rs143247685
LitVar	rs143247685
Map	rs143247685
PheGenI	rs143247685
Biobank	rs143247685
1000 genomes	rs143247685
hgdp	rs143247685
ensembl	rs143247685
geneview	rs143247685
scholar	rs143247685
google	rs143247685
pharmgkb	rs143247685
gwascentral	rs143247685
openSNP	rs143247685
23andMe	rs143247685
SNPshot	rs143247685
SNPdbe	rs143247685
MSV3d	rs143247685
GWAS Ctlg	rs143247685

GMAF

0.0009183

Max Magnitude

0

ClinVar
Risk	rs143247685(A;A) rs143247685(C;C)
Alt	rs143247685(A;A) rs143247685(C;C)
Reference	Rs143247685(T;T)
Significance	Other
Disease	not specified Rubinstein-Taybi syndrome not provided
Variation	info
Gene	CREBBP
CLNDBN	not specified Rubinstein-Taybi syndrome not provided
Reversed	0
HGVS	NC_000016.9:g.3820723T>A; NC_000016.9:g.3820723T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000120591.4, RCV000022942.6, RCV000145728.5, RCV000421582.1,