BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Medullary 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: rs80356952
rs80356952 		0.790 0.200 17 43093901 stop gained G/A snv
CUI: C0860580
Disease: Medullary carcinoma of breast
Medullary carcinoma of breast 		0.010 1.000 1 2009 2009