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: rs1410727652
rs1410727652
SLC22A3
2 1.000 0.080 6 160348669 missense variant C/T snv 7.0E-06 0.020 1.000 2 2018 2018
dbSNP: rs1418810723
rs1418810723
FN1
9 0.851 0.080 2 215409981 missense variant A/T snv 8.0E-06 0.020 1.000 2 2006 2011
dbSNP: rs537209983
rs537209983
NKX2-1 ; SFTA3 ; NKX2-1-AS1
3 0.882 0.080 14 36517378 missense variant G/A snv 1.7E-04 8.4E-05 0.020 1.000 2 2009 2015
dbSNP: rs782237788
rs782237788
NCOA4
2 1.000 0.080 10 46009499 missense variant T/C snv 4.0E-06 0.020 1.000 2 2007 2012
dbSNP: rs10119760
rs10119760 		1 1.000 0.080 9 97862320 intergenic variant G/C;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1025689
rs1025689
IL17RB
1 1.000 0.080 3 53849695 synonymous variant C/A;G;T snv 8.0E-06; 0.56 0.010 1.000 1 2015 2015
dbSNP: rs1061758
rs1061758
IL11RA
1 1.000 0.080 9 34652333 intron variant A/G snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs11175834
rs11175834
LOC100507065 ; LINC02454
2 0.925 0.080 12 65598856 intron variant C/T snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs11246050
rs11246050
NLRP6
2 1.000 0.080 11 284257 synonymous variant G/A;C snv 0.16; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs11466653
rs11466653
TLR10
3 1.000 0.080 4 38774614 missense variant A/G snv 6.4E-02 4.1E-02 0.010 1.000 1 2013 2013
dbSNP: rs11575688
rs11575688
HABP2
2 0.925 0.080 10 113583298 missense variant G/C snv 1.0E-02 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs11762469
rs11762469
BRAF
2 1.000 0.080 7 140914412 intron variant A/G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1248131654
rs1248131654
RBMS1
4 0.851 0.080 2 160367217 missense variant G/A snv 1.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs1267636
rs1267636
BRAF
1 1.000 0.080 7 140792239 intron variant T/C snv 0.11 0.010 < 0.001 1 2016 2016
dbSNP: rs12990503
rs12990503
DIRC3
2 0.925 0.080 2 217429494 intron variant C/G snv 0.64 0.700 1.000 1 2017 2017
dbSNP: rs1319984849
rs1319984849
EZH1
1 1.000 0.080 17 42727721 frameshift variant G/- delins 0.010 1.000 1 2019 2019
dbSNP: rs1347591
rs1347591
NUP93
2 1.000 0.080 16 56834788 intron variant A/G snv 0.47 0.47 0.010 1.000 1 2019 2019
dbSNP: rs1394069156
rs1394069156
CHEK2
1 1.000 0.080 22 28703554 missense variant T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs140451238
rs140451238
ITK
2 1.000 0.080 5 157208978 synonymous variant T/C snv 1.6E-04 7.8E-04 0.010 1.000 1 2018 2018
dbSNP: rs144110687
rs144110687
P2RX6
1 1.000 0.080 22 21025856 synonymous variant C/G;T snv 4.3E-05 0.010 1.000 1 2009 2009
dbSNP: rs1443434
rs1443434
FOXE1
4 0.851 0.080 9 97855197 3 prime UTR variant G/T snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1453167097
rs1453167097
TP53
2 0.925 0.080 17 7675172 missense variant A/C snv 0.010 1.000 1 2016 2016
dbSNP: rs1466683466
rs1466683466
P2RX3
1 1.000 0.080 11 57348630 synonymous variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs1467664274
rs1467664274
CHEK2
1 1.000 0.080 22 28695186 missense variant T/C snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1486830727
rs1486830727
EDNRA
1 1.000 0.080 4 147532671 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016