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: rs11571297
rs11571297 		3 0.882 0.120 2 203880280 regulatory region variant T/C snv 0.44 0.700 1.000 1 2012 2012
dbSNP: rs12507813
rs12507813 		1 1.000 0.040 4 165013422 upstream gene variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12551356
rs12551356 		1 1.000 0.040 9 74698280 intergenic variant G/T snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs12944194
rs12944194 		1 1.000 0.040 17 73850424 intergenic variant T/C snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs17445836
rs17445836 		5 0.851 0.320 16 85984057 intron variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs2736340
rs2736340 		22 0.683 0.480 8 11486464 upstream gene variant C/T snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs4409785
rs4409785 		12 0.752 0.240 11 95578258 intron variant T/C snv 0.13 0.700 1.000 1 2012 2012
dbSNP: rs57348955
rs57348955 		3 0.882 0.120 16 31174561 upstream gene variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs6887695
rs6887695 		14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs6972286
rs6972286 		2 1.000 0.040 7 118685680 intergenic variant A/T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs7178239
rs7178239 		2 1.000 0.040 15 101267907 downstream gene variant C/G snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs8099917
rs8099917 		60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs977706
rs977706 		2 1.000 0.040 17 13456118 intergenic variant A/T snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs2234767
rs2234767
ACTA2 ; FAS
30 0.649 0.280 10 88989499 intron variant G/A;T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs2292779
rs2292779
AGO2
4 0.851 0.320 8 140551294 intron variant G/C;T snv 0.57; 4.9E-06 0.010 1.000 1 2018 2018
dbSNP: rs121434257
rs121434257
AIRE
6 0.827 0.080 21 44289686 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs6479778
rs6479778
ARID5B
5 0.827 0.200 10 61929318 intron variant T/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs10774625
rs10774625
ATXN2
13 0.763 0.320 12 111472415 intron variant A/G snv 0.66 0.010 1.000 1 2016 2016
dbSNP: rs72928038
rs72928038
BACH2
19 0.695 0.360 6 90267049 intron variant G/A snv 0.11 0.700 1.000 1 2012 2012
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2013 2013
dbSNP: rs17759659
rs17759659
BCL2
4 0.851 0.120 18 63291411 intron variant A/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2019 2019
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 12 2008 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 12 2008 2019