rs1057519509

Orientation

plus

Stabilized

plus

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

Make rs1057519509(C;T)

Make rs1057519509(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

9739507

Gene

BRPF1

is a	snp
is	mentioned by
dbSNP	rs1057519509
dbSNP (classic)	rs1057519509
ClinGen	rs1057519509
ebi	rs1057519509
HLI	rs1057519509
Exac	rs1057519509
Gnomad	rs1057519509
Varsome	rs1057519509
LitVar	rs1057519509
Map	rs1057519509
PheGenI	rs1057519509
Biobank	rs1057519509
1000 genomes	rs1057519509
hgdp	rs1057519509
ensembl	rs1057519509
geneview	rs1057519509
scholar	rs1057519509
google	rs1057519509
pharmgkb	rs1057519509
gwascentral	rs1057519509
openSNP	rs1057519509
23andMe	rs1057519509
SNPshot	rs1057519509
SNPdbe	rs1057519509
MSV3d	rs1057519509
GWAS Ctlg	rs1057519509

Max Magnitude

0

ClinVar
Risk	rs1057519509(T;T)
Alt	rs1057519509(T;T)
Reference	Rs1057519509(C;C)
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.9781191C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416949.1,