Source: CLINVAR

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: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 4 1999 2010
dbSNP: rs121909224
rs121909224
0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1555599208
rs1555599208
1.000 17 43115726 stop gained TTGCAAAATATGTGGTCACACTTTGTGGAGACAGGTTCCTTGATCAACTCCAGA/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs273898674
rs273898674
0.925 0.200 17 43093472 stop gained G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs397507828
rs397507828
1.000 13 32340440 stop gained G/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2004 2004
dbSNP: rs397508983
rs397508983
1.000 17 43092959 stop gained G/A;C snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs41293465
rs41293465
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs771203198
rs771203198
0.925 0.200 13 32394750 stop gained G/A;C snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs786201059
rs786201059
0.701 0.360 17 7673764 stop gained C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs80357167
rs80357167
1.000 17 43094066 stop gained C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2004 2004
dbSNP: rs80357303
rs80357303
0.925 0.200 17 43071113 stop gained T/A;G snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs80357481
rs80357481
0.882 0.200 17 43094317 stop gained G/C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2004 2004
dbSNP: rs80357580
rs80357580
0.925 0.200 17 43067649 stop gained GTTA/-;GTTAGTTA delins 7.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs80358427
rs80358427
0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs80358529
rs80358529
0.925 0.200 13 32319283 stop gained C/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs80358785
rs80358785
0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs80358920
rs80358920
0.732 0.400 13 32346841 stop gained C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs80359212
rs80359212
0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs886037787
rs886037787
1.000 17 43092961 stop gained A/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs886037802
rs886037802
0.925 0.200 13 32339561 stop gained C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1057518637
rs1057518637
1.000 13 32336621 stop gained C/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0
dbSNP: rs1057518638
rs1057518638
1.000 13 32339317 stop gained T/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0
dbSNP: rs1131692035
rs1131692035
1.000 13 32332335 stop gained C/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0
dbSNP: rs1131692162
rs1131692162
17 43099781 stop gained C/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0