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rs1057519512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519512(C;T)
Make rs1057519512(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position9743763
GeneBRPF1
is asnp
is mentioned by
dbSNPrs1057519512
dbSNP (old)rs1057519512
ClinGenrs1057519512
ebirs1057519512
HLIrs1057519512
Exacrs1057519512
Gnomadrs1057519512
Varsomers1057519512
LitVarrs1057519512
Maprs1057519512
PheGenIrs1057519512
Biobankrs1057519512
1000 genomesrs1057519512
hgdprs1057519512
ensemblrs1057519512
gopubmedrs1057519512
geneviewrs1057519512
scholarrs1057519512
googlers1057519512
pharmgkbrs1057519512
gwascentralrs1057519512
openSNPrs1057519512
23andMers1057519512
23andMe allrs1057519512
SNPshotrs1057519512
SNPdbers1057519512
MSV3drs1057519512
GWAS Ctlgrs1057519512
Max Magnitude0
ClinVar
Risk rs1057519512(T;T)
Alt rs1057519512(T;T)
Reference Rs1057519512(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.9785447C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000416968.1,