Source: ALL
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: rs1554840869
rs1554840869
ACTR1A ; SUFU
2 0.925 0.160 10 102504322 frameshift variant -/C delins 0.700 0
dbSNP: rs1564654588
rs1564654588
ACTR1A ; SUFU
2 0.925 0.160 10 102504327 stop gained A/T snv 0.700 0
dbSNP: rs28942088
rs28942088
ACTR1A ; SUFU
1 1.000 0.040 10 102504196 missense variant C/T snv 0.700 0
dbSNP: rs863224925
rs863224925
ACTR1A ; SUFU
1 1.000 0.040 10 102504263 frameshift variant C/- del 0.700 0
dbSNP: rs1400239417
rs1400239417
ALK
4 0.882 0.040 2 29220756 missense variant T/A;G snv 4.0E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs1057517558
rs1057517558
APC
3 0.882 0.120 5 112839549 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs1291513037
rs1291513037
APC
1 1.000 0.040 5 112839481 missense variant C/T snv 4.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 2001 2001
dbSNP: rs387906238
rs387906238
APC
2 0.925 0.120 5 112819224 frameshift variant AA/- del 0.010 1.000 1 2007 2007
dbSNP: rs878853445
rs878853445
APC
1 1.000 0.040 5 112840008 missense variant G/A snv 8.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.010 1.000 1 2008 2008
dbSNP: rs139209450
rs139209450
AXIN2
1 1.000 0.040 17 65535650 missense variant G/A snv 1.0E-03 3.0E-04 0.010 1.000 1 2007 2007
dbSNP: rs749846538
rs749846538
AXIN2
1 1.000 0.040 17 65537814 missense variant C/T snv 6.7E-05 4.2E-05 0.010 1.000 1 2007 2007
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2011 2011
dbSNP: rs80358638
rs80358638
BRCA2
9 0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05 0.010 1.000 1 2003 2003
dbSNP: rs28897756
rs28897756
BRCA2
11 0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs397507327
rs397507327
BRCA2
9 0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs397507404
rs397507404
BRCA2
10 0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 0.700 0
dbSNP: rs397508045
rs397508045
BRCA2
9 0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs41293497
rs41293497
BRCA2
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs41293511
rs41293511
BRCA2
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 0
dbSNP: rs80358391
rs80358391
BRCA2
10 0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs80358427
rs80358427
BRCA2
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 0