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: rs387906848
rs387906848 		1.000 3 52402608 stop gained G/A snv 4.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 3 2008 2014
dbSNP: rs112194987
rs112194987 		1.000 3 52405296 splice acceptor variant T/A;C snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1553644659
rs1553644659 		1.000 3 52402787 stop gained T/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2012 2015
dbSNP: rs1553645164
rs1553645164 		1.000 3 52404550 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2012 2016
dbSNP: rs1553645729
rs1553645729 		1.000 3 52406908 splice acceptor variant C/A;T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1553645838
rs1553645838 		1.000 3 52407398 splice donor variant C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1559586168
rs1559586168 		1.000 3 52403299 splice acceptor variant C/T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1559589809
rs1559589809 		1.000 3 52406378 splice acceptor variant T/C snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs1559593339
rs1559593339 		1.000 3 52409841 splice donor variant C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs774730309
rs774730309 		1.000 3 52406251 splice donor variant A/G snv 8.0E-06 7.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs776240891
rs776240891 		1.000 3 52406279 stop gained G/A;T snv 1.6E-05
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 2 2011 2013
dbSNP: rs776240891
rs776240891 		1.000 3 52406279 stop gained G/A;T snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 2 2015 2017
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
dbSNP: rs1253151209
rs1253151209 		1.000 3 52408551 stop gained G/A;T snv 7.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 1 2012 2012
dbSNP: rs1553645720
rs1553645720 		1.000 3 52406896 stop gained C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 1.000 1 2015 2015
dbSNP: rs375129361
rs375129361 		0.925 0.120 3 52408056 missense variant T/A;C snv 4.1E-06
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
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
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: rs1060503726
rs1060503726 		1.000 3 52407210 stop gained C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1060503732
rs1060503732 		1.000 3 52408607 splice acceptor variant C/G snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0