Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 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: rs28897672
rs28897672
BRCA1
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 GeneticVariation BEFREE The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. 9525870

1998