BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Invasive carcinoma of breast ×
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: rs786202998
rs786202998 		0.851 0.080 17 43091030 stop gained C/A;T snv
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018