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: rs138106763
rs138106763
2 1.000 0.040 7 100857102 missense variant A/G snv 7.2E-05 1.2E-04 0.010 1.000 1 1998 1998
dbSNP: rs2228612
rs2228612
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs755660650
rs755660650
5 0.827 0.120 5 102498596 missense variant G/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2016 2016
dbSNP: rs11225395
rs11225395
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs17655
rs17655
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.020 1.000 2 2011 2015
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 0.500 2 2010 2016
dbSNP: rs2995264
rs2995264
4 0.851 0.080 10 103909085 intron variant G/A snv 0.88 0.700 1.000 1 2017 2017
dbSNP: rs1057519804
rs1057519804
2 1.000 0.040 14 104776711 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs397514644
rs397514644
2 0.925 0.040 14 104780190 missense variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1351212535
rs1351212535
1 1.000 0.040 9 104831015 missense variant T/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs4698934
rs4698934
1 1.000 0.040 4 105218230 intron variant T/C snv 0.12 0.810 1.000 1 2014 2014
dbSNP: rs17119461
rs17119461
1 1.000 0.040 10 105756594 intergenic variant T/C snv 7.7E-02 0.810 1.000 2 2012 2014
dbSNP: rs17119490
rs17119490
1 1.000 0.040 10 105763169 intergenic variant G/A snv 6.3E-02 0.010 1.000 1 2014 2014
dbSNP: rs6707820
rs6707820
1 1.000 0.040 2 105809256 intron variant C/T snv 0.25 0.010 1.000 1 2017 2017
dbSNP: rs10739221
rs10739221
5 0.851 0.080 9 106298549 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10816595
rs10816595
4 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1800054
rs1800054
ATM
7 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 0
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.810 1.000 3 2011 2017
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.020 0.500 2 2013 2015
dbSNP: rs11568953
rs11568953
EGF
1 1.000 0.040 4 109963240 synonymous variant A/G snv 9.7E-03 1.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs868443937
rs868443937
1 1.000 0.040 13 110715751 missense variant G/C;T snv 0.010 1.000 1 2004 2004
dbSNP: rs374980122
rs374980122
1 1.000 0.040 2 111142384 missense variant A/C snv 1.3E-05 3.5E-05 0.010 1.000 1 2009 2009