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rs1057519513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519513(C;T)
Make rs1057519513(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position9745904
GeneBRPF1
is asnp
is mentioned by
dbSNPrs1057519513
dbSNP (classic)rs1057519513
ClinGenrs1057519513
ebirs1057519513
HLIrs1057519513
Exacrs1057519513
Gnomadrs1057519513
Varsomers1057519513
LitVarrs1057519513
Maprs1057519513
PheGenIrs1057519513
Biobankrs1057519513
1000 genomesrs1057519513
hgdprs1057519513
ensemblrs1057519513
geneviewrs1057519513
scholarrs1057519513
googlers1057519513
pharmgkbrs1057519513
gwascentralrs1057519513
openSNPrs1057519513
23andMers1057519513
23andMe allrs1057519513
SNPshotrs1057519513
SNPdbers1057519513
MSV3drs1057519513
GWAS Ctlgrs1057519513
Max Magnitude0
ClinVar
Risk rs1057519513(T;T)
Alt rs1057519513(T;T)
Reference Rs1057519513(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.9787588C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416985.1,