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rs1057519510

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519510(C;T)
Make rs1057519510(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position9739762
GeneBRPF1
is asnp
is mentioned by
dbSNPrs1057519510
dbSNP (old)rs1057519510
ClinGenrs1057519510
ebirs1057519510
HLIrs1057519510
Exacrs1057519510
Gnomadrs1057519510
Varsomers1057519510
Maprs1057519510
PheGenIrs1057519510
Biobankrs1057519510
1000 genomesrs1057519510
hgdprs1057519510
ensemblrs1057519510
gopubmedrs1057519510
geneviewrs1057519510
scholarrs1057519510
googlers1057519510
pharmgkbrs1057519510
gwascentralrs1057519510
openSNPrs1057519510
23andMers1057519510
23andMe allrs1057519510
SNPshotrs1057519510
SNPdbers1057519510
MSV3drs1057519510
GWAS Ctlgrs1057519510
Max Magnitude0
ClinVar
Risk rs1057519510(T;T)
Alt rs1057519510(T;T)
Reference Rs1057519510(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.9781446C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416994.1,