Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555280073
rs1555280073
BRCA2
1 13 32316454 start lost TAAAAATGCCTATTGG/- delins 0.700 0
dbSNP: rs1555458822
rs1555458822
PALB2
1 16 23614062 frameshift variant T/- delins 0.700 0
dbSNP: rs1555461693
rs1555461693
PALB2
1 16 23635903 stop gained C/A snv 0.700 0
dbSNP: rs1555526250
rs1555526250
TP53
1 17 7675191 frameshift variant -/GGTCT delins 0.700 0
dbSNP: rs587782620
rs587782620
TP53
1 17 7675185 missense variant C/A;T snv 0.700 0
dbSNP: rs121913279
rs121913279
PIK3CA
45 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.740 1.000 10 2004 2016
dbSNP: rs121913500
rs121913500
IDH1
18 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs28934576
rs28934576
TP53
39 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 3 1998 2016
dbSNP: rs104886003
rs104886003
PIK3CA
34 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.710 1.000 12 2004 2016
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
36 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.710 1.000 2 2014 2017
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
52 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs11540652
rs11540652
TP53
42 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 3 1998 2016
dbSNP: rs121913273
rs121913273
PIK3CA
21 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 12 2004 2016
dbSNP: rs121912651
rs121912651
TP53
37 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2006 2016
dbSNP: rs104894228
rs104894228
HRAS ; LRRC56
30 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913499
rs121913499
IDH1
16 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913343
rs121913343
TP53
29 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121913281
rs121913281
PIK3CA
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121909224
rs121909224
PTEN
35 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
20 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121912664
rs121912664
TP53
7 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 0 2013 2013
dbSNP: rs28934575
rs28934575
TP53
25 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs397516436
rs397516436
TP53
26 0.641 0.440 17 7674894 stop gained G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs886039484
rs886039484
TP53
10 0.641 0.440 17 7674888 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
PIK3CA
28 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 10 2004 2016