Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750275408
rs750275408
BRCA1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE We have previously reported BRCA1 proteins unlike K109R and cancer-predisposing mutant C61G to bind Ubc9 and modulate ER-α turnover. 21344391

2011
dbSNP: rs45553935
rs45553935
BRCA1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. 23269703

2013
dbSNP: rs397509239
rs397509239
BRCA1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE BRCA1 p.Val1736Ala cosegregated with cancer in multiple families, associated tumors showed loss of wild-type BRCA1, and BRCA1 p.Val1736Ala showed reduced DNA damage localization. 23269703

2013
dbSNP: rs397508986
rs397508986
BRCA1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE In conclusion, despite several limitations, this meta-analysis suggested that BRCA1 P871L genetic variation may be associated with decreased susceptibility to cancer. 28427168

2017
dbSNP: rs397508938
rs397508938
BRCA1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels. 21863257

2011
dbSNP: rs28897696
rs28897696
BRCA1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE The results also raise the possibility that A1708V and R1699Q may be associated with a low or moderate risk of cancer. 18036263

2007
dbSNP: rs1799950
rs1799950
BRCA1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation BEFREE The purpose of this meta-analysis is to evaluate the relationship between BRCA1 polymorphisms (rs799917, rs1799950, rs1799966, or rs16941) and cancer risk. 29492227

2018