rs869025212, BAP1

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 5 2011 2016
TUMOR PREDISPOSITION SYNDROME
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
62 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 3 2011 2015
Carcinoma, Basal Cell
CUI: C4721806
Disease: Carcinoma, Basal Cell
91 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015
Malignant mesothelioma
CUI: C0345967
Disease: Malignant mesothelioma
12 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
288 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015
Uveal melanoma
CUI: C0220633
Disease: Uveal melanoma
22 0.827 0.200 3 52403428 frameshift variant G/- delins 0.700 1.000 1 2015 2015