BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: Uveal melanoma ×
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: C0220633
Disease: Uveal melanoma
Uveal melanoma 		Neoplasms; Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1559588632
rs1559588632 		1.000 0.080 3 52405266 splice acceptor variant CATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAG/- delins
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		Neoplasms; Eye Diseases 0.700 0
dbSNP: rs387906849
rs387906849 		0.925 0.080 3 52405897 stop gained G/A snv
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		Neoplasms; Eye Diseases 0.010 1.000 1 2011 2011