Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs81002796
rs81002796
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs81002796
rs81002796
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012
dbSNP: rs81002796
rs81002796
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Two BRCA1/2 founder mutations in Jews of Sephardic origin. 21063910

2011
dbSNP: rs81002796
rs81002796
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR RNA-based analysis of BRCA1 and BRCA2 gene alterations. 17011978

2006
dbSNP: rs81002796
rs81002796
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR RNA-based analysis of BRCA1 and BRCA2 gene alterations. 17011978

2006
dbSNP: rs81002796
rs81002796
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098

2003
dbSNP: rs81002796
rs81002796
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany. 12938098

2003
dbSNP: rs81002796
rs81002796
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR