Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057519511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs1057519511(-;-)
Make rs1057519511(-;AG)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position9734502
GeneBRPF1
is asnp
is mentioned by
dbSNPrs1057519511
dbSNP (old)rs1057519511
ClinGenrs1057519511
ebirs1057519511
HLIrs1057519511
Exacrs1057519511
Gnomadrs1057519511
Varsomers1057519511
LitVarrs1057519511
Maprs1057519511
PheGenIrs1057519511
Biobankrs1057519511
1000 genomesrs1057519511
hgdprs1057519511
ensemblrs1057519511
gopubmedrs1057519511
geneviewrs1057519511
scholarrs1057519511
googlers1057519511
pharmgkbrs1057519511
gwascentralrs1057519511
openSNPrs1057519511
23andMers1057519511
23andMe allrs1057519511
SNPshotrs1057519511
SNPdbers1057519511
MSV3drs1057519511
GWAS Ctlgrs1057519511
Max Magnitude0
ClinVar
Risk rs1057519511(-;-)
Alt rs1057519511(-;-)
Reference Rs1057519511(AG;AG)
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.9776186_9776187delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000417031.1,