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: rs878854741
rs878854741 		3 52406826 splice region variant T/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1553645126
rs1553645126 		3 52404499 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553645146
rs1553645146 		3 52404529 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553645329
rs1553645329 		3 52405270 stop gained G/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553645586
rs1553645586 		3 52406264 frameshift variant -/TAGTA ins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553646061
rs1553646061 		3 52408601 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1553646367
rs1553646367 		3 52409744 splice acceptor variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1559585465
rs1559585465 		3 52402861 frameshift variant -/CCAGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1559585778
rs1559585778 		3 52403143 frameshift variant GAGT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1559586965
rs1559586965 		3 52403764 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1559589344
rs1559589344 		3 52405914 splice acceptor variant T/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1559590613
rs1559590613 		3 52407295 frameshift variant AG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1559591728
rs1559591728 		3 52408574 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs869025212
rs869025212 		0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 5 2011 2016
dbSNP: rs869025212
rs869025212 		0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 3 2011 2015
dbSNP: rs869025212
rs869025212 		0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs869025212
rs869025212 		0.827 0.200 3 52403428 frameshift variant G/- delins
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
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: 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
dbSNP: rs1064795638
rs1064795638 		0.851 0.080 3 52403251 stop gained G/A snv
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1064795638
rs1064795638 		0.851 0.080 3 52403251 stop gained G/A snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1064795638
rs1064795638 		0.851 0.080 3 52403251 stop gained G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1064795638
rs1064795638 		0.851 0.080 3 52403251 stop gained G/A snv
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1064795638
rs1064795638 		0.851 0.080 3 52403251 stop gained G/A snv
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1064795638
rs1064795638 		0.851 0.080 3 52403251 stop gained G/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016