rs1057519515

Orientation

plus

Stabilized

plus

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

Make rs1057519515(C;C)

Make rs1057519515(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

9739564

Gene

BRPF1

is a	snp
is	mentioned by
dbSNP	rs1057519515
dbSNP (classic)	rs1057519515
ClinGen	rs1057519515
ebi	rs1057519515
HLI	rs1057519515
Exac	rs1057519515
Gnomad	rs1057519515
Varsome	rs1057519515
LitVar	rs1057519515
Map	rs1057519515
PheGenI	rs1057519515
Biobank	rs1057519515
1000 genomes	rs1057519515
hgdp	rs1057519515
ensembl	rs1057519515
geneview	rs1057519515
scholar	rs1057519515
google	rs1057519515
pharmgkb	rs1057519515
gwascentral	rs1057519515
openSNP	rs1057519515
23andMe	rs1057519515
SNPshot	rs1057519515
SNPdbe	rs1057519515
MSV3d	rs1057519515
GWAS Ctlg	rs1057519515

Max Magnitude

0

ClinVar
Risk	rs1057519515(C;C)
Alt	rs1057519515(C;C)
Reference	Rs1057519515(T;T)
Significance	Pathogenic
Disease	Intellectual developmental disorder with dysmorphic facies and ptosis
Variation	info
Gene	BRPF1
CLNDBN	Intellectual developmental disorder with dysmorphic facies and ptosis
Reversed	0
HGVS	NC_000003.11:g.9781248T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417004.1,