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: rs2965667
rs2965667 		10 0.776 0.080 12 17291799 intergenic variant A/T snv 0.96 0.700 1.000 1 2015 2015
dbSNP: rs209489
rs209489
ELOVL5
9 0.790 0.080 6 53312880 intron variant C/A snv 0.92 0.700 1.000 1 2016 2016
dbSNP: rs7229639
rs7229639
SMAD7
13 0.763 0.080 18 48924606 intron variant A/G snv 0.87 0.700 1.000 5 2014 2019
dbSNP: rs2738783
rs2738783
RTEL1 ; RTEL1-TNFRSF6B
11 0.763 0.160 20 63677259 intron variant T/G snv 0.85 0.700 1.000 1 2019 2019
dbSNP: rs10849432
rs10849432
LOC105369625
9 0.790 0.080 12 6276561 intergenic variant C/T snv 0.84 0.700 1.000 2 2014 2016
dbSNP: rs4378954
rs4378954
LSAMP
10 0.790 0.080 3 115931601 intron variant T/C snv 0.83 0.700 1.000 1 2015 2015
dbSNP: rs13831
rs13831
GNAS
9 0.790 0.080 20 58900136 3 prime UTR variant A/G snv 0.77 0.700 1.000 1 2019 2019
dbSNP: rs9271770
rs9271770 		10 0.776 0.120 6 32626471 upstream gene variant G/A snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs9271695
rs9271695 		10 0.776 0.080 6 32625303 upstream gene variant A/G snv 0.76 0.700 1.000 1 2019 2019
dbSNP: rs1028166
rs1028166
TENM3 ; TENM3-AS1
9 0.790 0.080 4 181892145 intron variant G/A snv 0.74 0.700 1.000 1 2014 2014
dbSNP: rs6031311
rs6031311
TOX2
10 0.776 0.080 20 44037835 intron variant C/T snv 0.73 0.700 1.000 1 2019 2019
dbSNP: rs3087967
rs3087967
C11orf53
10 0.776 0.080 11 111286111 3 prime UTR variant T/C snv 0.72 0.700 1.000 2 2019 2019
dbSNP: rs2179593
rs2179593
TOX2
11 0.790 0.080 20 44031646 intron variant C/A snv 0.71 0.700 1.000 1 2019 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.700 1.000 8 2008 2019
dbSNP: rs1391441
rs1391441
TET2 ; TET2-AS1
11 0.763 0.240 4 105207603 intron variant G/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs639933
rs639933
C5orf66 ; LOC105379188
9 0.790 0.080 5 135132061 intron variant C/A snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs3787089
rs3787089
RTEL1 ; RTEL1-TNFRSF6B
9 0.790 0.080 20 63685277 intron variant C/T snv 0.70 0.700 1.000 1 2019 2019
dbSNP: rs4143094
rs4143094
GATA3
12 0.752 0.240 10 8047173 intron variant T/G snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs847208
rs847208 		9 0.790 0.080 16 86220445 downstream gene variant C/A snv 0.70 0.700 1.000 2 2018 2019
dbSNP: rs6589219
rs6589219
COLCA2 ; COLCA1
9 0.790 0.080 11 111302186 intron variant G/C snv 0.69 0.700 1.000 1 2018 2018
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.700 1.000 3 2014 2016
dbSNP: rs1665650
rs1665650
HSPA12A
12 0.752 0.160 10 116727589 intron variant T/C snv 0.69 0.700 1.000 1 2013 2013
dbSNP: rs1862626
rs1862626 		17 0.708 0.280 5 56737113 regulatory region variant G/T snv 0.68 0.700 1.000 1 2016 2016
dbSNP: rs3801081
rs3801081
TNS3
9 0.790 0.080 7 47471563 intron variant A/G snv 0.68 0.700 1.000 1 2019 2019
dbSNP: rs28488
rs28488 		10 0.776 0.080 20 6781574 downstream gene variant C/T snv 0.68 0.700 1.000 1 2019 2019