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: rs1057518919
rs1057518919
5 0.851 0.120 14 73171023 missense variant T/G snv 0.700 0
dbSNP: rs1345176461
rs1345176461
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs137852959
rs137852959
9 0.790 0.160 20 3918695 missense variant G/A snv 8.7E-05 2.3E-04 0.700 0
dbSNP: rs148881970
rs148881970
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 0
dbSNP: rs555145190
rs555145190
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 0
dbSNP: rs63750301
rs63750301
6 0.827 0.120 14 73198052 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs63751011
rs63751011
4 0.925 0.120 17 46010418 intron variant C/T snv 0.700 0
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs17070145
rs17070145
10 0.790 0.120 5 168418786 intron variant C/T snv 0.43 0.010 < 0.001 1 2009 2009
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 < 0.001 1 2011 2011
dbSNP: rs2276109
rs2276109
18 0.701 0.440 11 102875061 upstream gene variant T/C snv 9.2E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs2306604
rs2306604
5 0.827 0.080 10 58388932 intron variant A/C;G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 < 0.001 1 2019 2019
dbSNP: rs440446
rs440446
8 0.807 0.200 19 44905910 missense variant C/G;T snv 0.60 0.010 < 0.001 1 2019 2019
dbSNP: rs652438
rs652438
14 0.716 0.400 11 102865911 missense variant T/C;G snv 7.1E-02; 2.5E-04 0.010 < 0.001 1 2018 2018
dbSNP: rs7412
rs7412
47 0.641 0.640 19 44908822 missense variant C/T snv 6.2E-02 7.9E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs748703149
rs748703149
3 0.882 0.080 19 44908729 missense variant G/A;C;T snv 6.3E-06; 6.3E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs766647311
rs766647311
3 0.882 0.080 6 41159841 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2020 2020
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 0.500 2 2006 2012
dbSNP: rs75932628
rs75932628
28 0.662 0.480 6 41161514 missense variant C/A;T snv 6.8E-05; 2.6E-03 0.020 0.500 2 2014 2015
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.060 1.000 6 2011 2019
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.060 1.000 6 2011 2019
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.050 1.000 5 1999 2017
dbSNP: rs74315401
rs74315401
32 0.683 0.320 20 4699525 missense variant C/T snv 0.050 1.000 5 1995 2017
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2001 2012