Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519514(C;G)
Make rs1057519514(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position9745069
GeneBRPF1
is asnp
is mentioned by
dbSNPrs1057519514
dbSNP (old)rs1057519514
ClinGenrs1057519514
ebirs1057519514
HLIrs1057519514
Exacrs1057519514
Gnomadrs1057519514
Varsomers1057519514
Maprs1057519514
PheGenIrs1057519514
Biobankrs1057519514
1000 genomesrs1057519514
hgdprs1057519514
ensemblrs1057519514
gopubmedrs1057519514
geneviewrs1057519514
scholarrs1057519514
googlers1057519514
pharmgkbrs1057519514
gwascentralrs1057519514
openSNPrs1057519514
23andMers1057519514
23andMe allrs1057519514
SNPshotrs1057519514
SNPdbers1057519514
MSV3drs1057519514
GWAS Ctlgrs1057519514
Max Magnitude0
ClinVar
Risk rs1057519514(G;G)
Alt rs1057519514(G;G)
Reference Rs1057519514(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.9786753C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000416973.1,