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rs1057519517

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519517(-;A)
Make rs1057519517(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position9734244
GeneBRPF1
is asnp
is mentioned by
dbSNPrs1057519517
dbSNP (classic)rs1057519517
ClinGenrs1057519517
ebirs1057519517
HLIrs1057519517
Exacrs1057519517
Gnomadrs1057519517
Varsomers1057519517
LitVarrs1057519517
Maprs1057519517
PheGenIrs1057519517
Biobankrs1057519517
1000 genomesrs1057519517
hgdprs1057519517
ensemblrs1057519517
geneviewrs1057519517
scholarrs1057519517
googlers1057519517
pharmgkbrs1057519517
gwascentralrs1057519517
openSNPrs1057519517
23andMers1057519517
23andMe allrs1057519517
SNPshotrs1057519517
SNPdbers1057519517
MSV3drs1057519517
GWAS Ctlgrs1057519517
Max Magnitude0
ClinVar
Risk rs1057519517(A;A)
Alt rs1057519517(A;A)
Reference Rs1057519517(-;-)
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.9775928dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000416965.1,