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: rs4975616
rs4975616 		12 0.763 0.320 5 1315545 downstream gene variant G/A snv 0.51 0.020 1.000 2 2010 2013
dbSNP: rs10503380
rs10503380 		2 1.000 0.080 8 9552985 upstream gene variant C/T snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs11991621
rs11991621 		2 1.000 0.080 8 9549072 intergenic variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs12296850
rs12296850 		3 0.925 0.080 12 100426307 downstream gene variant A/G snv 8.7E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs6601328
rs6601328 		2 1.000 0.080 8 9545693 regulatory region variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs7309332
rs7309332 		3 1.000 0.040 12 7938243 upstream gene variant T/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs750749
rs750749 		1 6 14141866 downstream gene variant T/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs9370729
rs9370729 		1 6 14138061 downstream gene variant C/T snv 0.44 0.010 1.000 1 2009 2009
dbSNP: rs1164376164
rs1164376164
ABCB1
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.020 0.500 2 2006 2008
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2006 2006
dbSNP: rs1289543302
rs1289543302
ABCB1
12 0.763 0.440 7 87536472 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs3114020
rs3114020
ABCG2
5 0.882 0.200 4 88162514 intron variant T/C snv 0.40 0.010 1.000 1 2017 2017
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1057519696
rs1057519696
ALK
5 1.000 0.040 2 29214054 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs863225307
rs863225307
APC
1 5 112819077 stop gained C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2010 2010
dbSNP: rs17757541
rs17757541
BCL2
7 0.827 0.240 18 63212453 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 20 2006 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 20 2006 2019
dbSNP: rs121913355
rs121913355
BRAF
42 0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12613347
rs12613347
CASP10
1 2 201190589 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs3787728
rs3787728
CBR1 ; SETD4 ; LOC100133286
5 0.851 0.080 21 36071595 intron variant T/C snv 0.74 0.010 < 0.001 1 2017 2017
dbSNP: rs3760396
rs3760396
CCL2
13 0.732 0.280 17 34254422 upstream gene variant G/C snv 0.15 0.010 < 0.001 1 2016 2016