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rs1057519516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519516(-;-)
Make rs1057519516(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position9734707
GeneBRPF1
is asnp
is mentioned by
dbSNPrs1057519516
dbSNP (old)rs1057519516
ClinGenrs1057519516
ebirs1057519516
HLIrs1057519516
Exacrs1057519516
Gnomadrs1057519516
Varsomers1057519516
Maprs1057519516
PheGenIrs1057519516
Biobankrs1057519516
1000 genomesrs1057519516
hgdprs1057519516
ensemblrs1057519516
gopubmedrs1057519516
geneviewrs1057519516
scholarrs1057519516
googlers1057519516
pharmgkbrs1057519516
gwascentralrs1057519516
openSNPrs1057519516
23andMers1057519516
23andMe allrs1057519516
SNPshotrs1057519516
SNPdbers1057519516
MSV3drs1057519516
GWAS Ctlgrs1057519516
Max Magnitude0
ClinVar
Risk rs1057519516(-;-)
Alt rs1057519516(-;-)
Reference Rs1057519516(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.9776391delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000417029.1,