Source: CURATED

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: rs28897749
rs28897749
BRCA2
0.882 0.120 13 32363384 missense variant G/A;C snv 2.1E-03; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs370252983
rs370252983
BRCA2
1.000 0.080 13 32339766 missense variant T/C snv 3.2E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs397507232
rs397507232
BRCA1
1.000 0.080 17 43076516 missense variant T/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs397507615
rs397507615
BRCA2
1.000 0.080 13 32319200 missense variant C/T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs397507620
rs397507620
BRCA2
1.000 0.080 13 32336542 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs397507795
rs397507795
BRCA2
1.000 0.080 13 32340015 missense variant C/G;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs397507838
rs397507838
BRCA2
1.000 0.080 13 32340636 missense variant A/C;G snv 8.2E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs397507875
rs397507875
BRCA2
1.000 0.080 13 32341020 missense variant A/G snv 1.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs397508057
rs397508057
BRCA2
1.000 0.080 13 32319103 missense variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs398122784
rs398122784
BRCA2
1.000 0.080 13 32339094 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs41293447
rs41293447
BRCA1
1.000 0.080 17 43092229 missense variant C/T snv 1.2E-04 6.2E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs41293459
rs41293459
BRCA1
0.763 0.280 17 43063930 missense variant C/A;G;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 20 1994 2019
dbSNP: rs41293463
rs41293463
BRCA1
0.790 0.280 17 43051071 missense variant A/C;T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 20 1994 2017
dbSNP: rs45553935
rs45553935
BRCA1
0.851 0.200 17 43057122 missense variant A/C;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs55688530
rs55688530
BRCA1
1.000 0.080 17 43097280 missense variant G/A;T snv 6.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs55712212
rs55712212
BRCA2
1.000 0.080 13 32341176 missense variant G/A;T snv 1.5E-03 1.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs55716624
rs55716624
BRCA2
1.000 0.080 13 32356496 missense variant C/A;T snv 2.7E-04 9.8E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs55815649
rs55815649
BRCA1
1.000 0.080 17 43074406 missense variant C/T snv 3.9E-04 1.4E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs55971303
rs55971303
BRCA1
0.851 0.120 17 43104138 missense variant G/T snv 1.0E-04 4.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.710 1.000 20 1994 2017
dbSNP: rs56046357
rs56046357
BRCA1
1.000 0.080 17 43094148 missense variant A/T snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs56195342
rs56195342
BRCA1
1.000 0.080 17 43063368 missense variant T/C snv 1.8E-04 1.1E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs56204128
rs56204128
BRCA2
1.000 0.080 13 32394785 missense variant T/C;G snv 1.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs56214134
rs56214134
BRCA1
0.925 0.080 17 43091931 missense variant C/A;G snv 1.2E-04; 2.3E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017
dbSNP: rs587780646
rs587780646
BRCA2
1.000 0.080 13 32333316 missense variant T/G snv 7.0E-05 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1997 2006
dbSNP: rs587782190
rs587782190
BRCA1
0.882 0.200 17 43091731 stop gained A/C;G snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 1.000 20 1994 2017