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rs1057519509

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519509(C;T)
Make rs1057519509(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position9739507
GeneBRPF1
is asnp
is mentioned by
dbSNPrs1057519509
dbSNP (old)rs1057519509
ClinGenrs1057519509
ebirs1057519509
HLIrs1057519509
Exacrs1057519509
Gnomadrs1057519509
Varsomers1057519509
Maprs1057519509
PheGenIrs1057519509
Biobankrs1057519509
1000 genomesrs1057519509
hgdprs1057519509
ensemblrs1057519509
gopubmedrs1057519509
geneviewrs1057519509
scholarrs1057519509
googlers1057519509
pharmgkbrs1057519509
gwascentralrs1057519509
openSNPrs1057519509
23andMers1057519509
23andMe allrs1057519509
SNPshotrs1057519509
SNPdbers1057519509
MSV3drs1057519509
GWAS Ctlgrs1057519509
Max Magnitude0
ClinVar
Risk rs1057519509(T;T)
Alt rs1057519509(T;T)
Reference Rs1057519509(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.9781191C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416949.1,