BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Malignant transformation ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs799917
rs799917 		0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 2013 2013