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: rs2516448
rs2516448 		10 0.827 0.120 6 31422633 intron variant T/C;G snv 0.720 1.000 3 2013 2016
dbSNP: rs9277952
rs9277952 		4 0.851 0.080 6 33236497 upstream gene variant G/A snv 0.10 0.720 1.000 3 2013 2016
dbSNP: rs8067378
rs8067378 		12 0.752 0.240 17 39895095 regulatory region variant A/G snv 0.50 0.710 1.000 2 2013 2016
dbSNP: rs1195571
rs1195571 		3 0.882 0.080 12 130739483 intergenic variant T/C snv 0.97 0.010 < 0.001 1 2019 2019
dbSNP: rs180082
rs180082 		3 0.882 0.080 17 69955727 intergenic variant C/G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs2808630
rs2808630 		13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 1.000 1 2011 2011
dbSNP: rs2844511
rs2844511 		10 0.807 0.200 6 31422007 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs3132461
rs3132461 		1 1.000 0.080 6 31512891 upstream gene variant G/A snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs4769793
rs4769793 		8 0.807 0.120 13 29985289 intergenic variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs6457617
rs6457617 		11 0.763 0.480 6 32696074 intergenic variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs6812281
rs6812281 		1 1.000 0.080 4 179391655 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs73730372
rs73730372 		1 1.000 0.080 6 32616804 regulatory region variant C/T snv 0.13 0.700 1.000 1 2016 2016
dbSNP: rs9532669
rs9532669 		1 1.000 0.080 13 40927414 downstream gene variant A/T snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs1800682
rs1800682
ACTA2 ; FAS
32 0.637 0.440 10 88990206 non coding transcript exon variant A/G snv 0.54 0.020 < 0.001 2 2014 2017
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 < 0.001 1 2017 2017
dbSNP: rs59661306
rs59661306
ADGRV1 ; LUCAT1
1 1.000 0.080 5 91087644 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs9302648
rs9302648
AKTIP
3 0.882 0.080 16 53493869 non coding transcript exon variant G/T snv 0.54 0.010 1.000 1 2016 2016
dbSNP: rs9931702
rs9931702
AKTIP
4 0.851 0.160 16 53492639 non coding transcript exon variant C/T snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs5757465
rs5757465
APOBEC3G
3 0.882 0.080 22 39081118 synonymous variant T/C snv 0.37 0.31 0.010 1.000 1 2019 2019
dbSNP: rs807183
rs807183
ATG4A
4 0.851 0.120 X 108094263 intron variant G/A snv 0.51 0.010 1.000 1 2018 2018
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 2012 2012
dbSNP: rs3744935
rs3744935
BCL2
3 0.882 0.080 18 63127447 3 prime UTR variant C/T snv 6.0E-03 0.010 1.000 1 2016 2016
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs11079454
rs11079454
BRIP1
3 0.882 0.080 17 61679808 3 prime UTR variant T/A;C snv 0.020 0.500 2 2013 2016