BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
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: rs869025212
rs869025212
0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
Neoplasms 0.700 1.000 1 2015 2015