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rs1057519515

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057519515(C;C)
Make rs1057519515(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position9739564
GeneBRPF1
is asnp
is mentioned by
dbSNPrs1057519515
dbSNP (old)rs1057519515
ClinGenrs1057519515
ebirs1057519515
HLIrs1057519515
Exacrs1057519515
Gnomadrs1057519515
Varsomers1057519515
Maprs1057519515
PheGenIrs1057519515
Biobankrs1057519515
1000 genomesrs1057519515
hgdprs1057519515
ensemblrs1057519515
gopubmedrs1057519515
geneviewrs1057519515
scholarrs1057519515
googlers1057519515
pharmgkbrs1057519515
gwascentralrs1057519515
openSNPrs1057519515
23andMers1057519515
23andMe allrs1057519515
SNPshotrs1057519515
SNPdbers1057519515
MSV3drs1057519515
GWAS Ctlgrs1057519515
Max Magnitude0
ClinVar
Risk rs1057519515(C;C)
Alt rs1057519515(C;C)
Reference Rs1057519515(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.9781248T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000417004.1,