RBBP8, RB binding protein 8, endonuclease, 5932

N. diseases: 110; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373804633
rs373804633
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C1847572
Disease:
SECKEL SYNDROME 2 		0.800 GeneticVariation UNIPROT Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
dbSNP: rs373804633
rs373804633
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C1847572
Disease:
SECKEL SYNDROME 2 		0.800 GeneticVariation UNIPROT CtIP Mutations Cause Seckel and Jawad Syndromes. 21998596 2011
dbSNP: rs373804633
rs373804633
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C1847572
Disease:
SECKEL SYNDROME 2 		T 0.800 CausalMutation CLINVAR
dbSNP: rs8085287
rs8085287
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C0023508
Disease:
White Blood Cell Count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12962334
rs12962334
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C0678222
Disease:
Breast Carcinoma 		C 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs9963862
rs9963862
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C0026896
Disease:
Myasthenia Gravis 		G 0.700 GeneticVariation GWASCAT Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations. 26562150 2016
dbSNP: rs587776883
rs587776883
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C1847572
Disease:
SECKEL SYNDROME 2 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587776884
rs587776884
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C0796063
Disease:
microcephaly-digital anomalies syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs587780432
rs587780432
Entrez Id: 5932
Gene Symbol: RBBP8
RBBP8
CUI: C1847572
Disease:
SECKEL SYNDROME 2 		T 0.700 CausalMutation CLINVAR