rs1057519513

Orientation

plus

Stabilized

plus

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

Make rs1057519513(C;T)

Make rs1057519513(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

3

Position

9745904

Gene

BRPF1

is a	snp
is	mentioned by
dbSNP	rs1057519513
dbSNP (classic)	rs1057519513
ClinGen	rs1057519513
ebi	rs1057519513
HLI	rs1057519513
Exac	rs1057519513
Gnomad	rs1057519513
Varsome	rs1057519513
LitVar	rs1057519513
Map	rs1057519513
PheGenI	rs1057519513
Biobank	rs1057519513
1000 genomes	rs1057519513
hgdp	rs1057519513
ensembl	rs1057519513
geneview	rs1057519513
scholar	rs1057519513
google	rs1057519513
pharmgkb	rs1057519513
gwascentral	rs1057519513
openSNP	rs1057519513
23andMe	rs1057519513
SNPshot	rs1057519513
SNPdbe	rs1057519513
MSV3d	rs1057519513
GWAS Ctlg	rs1057519513

Max Magnitude

0

ClinVar
Risk	rs1057519513(T;T)
Alt	rs1057519513(T;T)
Reference	Rs1057519513(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.9787588C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416985.1,