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: rs113994087
rs113994087
ALK
0.827 0.120 2 29209798 missense variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs1555114766
rs1555114766
11 108317486 stop gained G/A snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0
dbSNP: rs28904921
rs28904921
0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0
dbSNP: rs1553622530
rs1553622530
2 214781220 stop gained C/T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 0
dbSNP: rs121913348
rs121913348
0.763 0.480 7 140781617 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 3 2002 2014
dbSNP: rs80357973
rs80357973
0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 13 1976 2016
dbSNP: rs80357243
rs80357243
17 43063885 missense variant A/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 2 2010 2015
dbSNP: rs80357772
rs80357772
0.925 0.200 17 43094549 frameshift variant AT/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 2 2004 2016
dbSNP: rs1057517590
rs1057517590
1.000 17 43063370 frameshift variant A/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2004 2004
dbSNP: rs1555582520
rs1555582520
17 43076486 splice donor variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2004 2004
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: rs397508940
rs397508940
1.000 17 43104958 splice acceptor variant T/C;G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs397508979
rs397508979
17 43092974 frameshift variant -/GAAAAGTGAA ins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
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: 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: rs587781632
rs587781632
0.925 0.200 17 43106476 splice donor variant A/C;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: rs80357498
rs80357498
0.925 0.200 17 43115744 missense variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2012 2012
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: rs80357787
rs80357787
0.925 0.200 17 43091008 frameshift variant TC/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2004 2004
dbSNP: rs80358146
rs80358146
1.000 17 43104957 splice acceptor variant C/A;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs886037784
rs886037784
1.000 17 43099803 frameshift variant A/- del
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016