Source: ALL

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: rs80357336
rs80357336
BRCA1
0.925 0.080 17 43045711 stop gained G/C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2002 2002
dbSNP: rs273899698
rs273899698
BRCA1
0.851 0.080 17 43092434 stop gained C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs28897686
rs28897686
BRCA1
0.882 0.200 17 43091783 stop gained C/A;T snv 8.0E-06; 2.0E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs41293465
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs62625307
rs62625307
BRCA1
0.827 0.200 17 43091933 stop gained G/A snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs62625308
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs730881473
rs730881473
BRCA1
0.925 0.080 17 43093817 stop gained C/A;G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80356885
rs80356885
BRCA1
0.827 0.200 17 43074482 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80356935
rs80356935
BRCA1
0.882 0.200 17 43094472 stop gained C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80356937
rs80356937
BRCA1
0.882 0.200 17 43057117 stop gained C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80356953
rs80356953
BRCA1
0.851 0.200 17 43074519 stop gained G/C;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80356962
rs80356962
BRCA1
0.807 0.200 17 43047666 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80356978
rs80356978
BRCA1
0.827 0.200 17 43092809 stop gained C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80356991
rs80356991
BRCA1
0.882 0.200 17 43104136 stop gained C/A;G;T snv 8.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357082
rs80357082
BRCA1
0.882 0.200 17 43093496 stop gained T/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357123
rs80357123
BRCA1
0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357202
rs80357202
BRCA1
0.851 0.080 17 43091477 stop gained C/A;G;T snv 2.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357215
rs80357215
BRCA1
0.882 0.200 17 43094465 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357239
rs80357239
BRCA1
0.882 0.200 17 43063372 stop gained C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357350
rs80357350
BRCA1
0.827 0.200 17 43104928 stop gained G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357366
rs80357366
BRCA1
0.882 0.200 17 43074403 stop gained C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357418
rs80357418
BRCA1
0.882 0.200 17 43063890 stop gained C/T snv 8.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357433
rs80357433
BRCA1
0.851 0.200 17 43071225 stop gained G/A;C snv 4.0E-06 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80357440
rs80357440
BRCA1
0.827 0.200 17 43091638 stop gained G/A;C;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs879255498
rs879255498
BRCA1
0.851 0.080 17 43094606 stop gained T/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0