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: rs1060503726
rs1060503726 		1.000 3 52407210 stop gained C/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1060503727
rs1060503727 		1.000 3 52406844 frameshift variant C/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1060503731
rs1060503731 		1.000 3 52403729 frameshift variant C/- delins
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
dbSNP: rs1060503735
rs1060503735 		1.000 3 52409716 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: rs1060503743
rs1060503743 		1.000 3 52403193 frameshift variant T/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1060503744
rs1060503744 		1.000 3 52408548 stop gained T/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1060503750
rs1060503750 		1.000 3 52408473 splice donor variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0
dbSNP: rs1060503750
rs1060503750 		1.000 3 52408473 splice donor variant C/A;T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1064795638
rs1064795638 		0.851 0.080 3 52403251 stop gained G/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1351986946
rs1351986946 		1.000 3 52403786 frameshift variant TT/- delins 4.0E-06
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs143901408
rs143901408 		1.000 3 52407235 stop gained A/C;G snv 1.6E-04
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553644634
rs1553644634 		1.000 3 52402675 splice acceptor variant C/T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553644815
rs1553644815 		1.000 3 52403449 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: rs1553644815
rs1553644815 		1.000 3 52403449 frameshift variant -/A delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553644922
rs1553644922 		1.000 3 52403681 frameshift variant G/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553644949
rs1553644949 		1.000 3 52403766 stop gained G/T snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553645117
rs1553645117 		1.000 3 52404489 stop gained CGTCATCCTCAT/- delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
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: rs1553645136
rs1553645136 		1.000 3 52404517 frameshift variant -/T delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		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: rs1553645164
rs1553645164 		1.000 3 52404550 stop gained G/A snv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		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: rs1553645492
rs1553645492 		1.000 3 52405858 frameshift variant -/T delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0
dbSNP: rs1553645497
rs1553645497 		1.000 3 52405864 frameshift variant -/T delins
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0