Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.040 1.000 4 1999 2018
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2002 2018
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 0.667 3 2002 2018
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.030 1.000 3 1999 2018
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 1.000 2 1999 2009
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 1.000 2 2007 2012
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 1.000 2 2007 2012
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		0.010 1.000 1 2000 2000
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2018 2018
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 1.000 1 2000 2000
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 1.000 1 2005 2005
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1799950
rs1799950
BRCA1
0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 1.000 1 2018 2018