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: rs35074907
rs35074907
KEAP1
6 0.807 0.160 19 10489742 synonymous variant G/A snv 1.9E-02 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs3784099
rs3784099
RAD51B
6 0.807 0.320 14 68283210 intron variant G/A snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs71508903
rs71508903
ARID5B
7 0.807 0.160 10 62020112 intron variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs758865880
rs758865880
KYNU
8 0.807 0.280 2 142956235 stop gained T/A snv 7.2E-05 4.9E-05 0.700 1.000 1 2017 2017
dbSNP: rs770642379
rs770642379
KYNU
8 0.807 0.280 2 143040430 frameshift variant TTTAAGC/- delins 3.2E-05 2.8E-05 0.700 1.000 1 2017 2017
dbSNP: rs1555570093
rs1555570093
MPDU1
12 0.807 0.280 17 7586699 missense variant G/A snv 0.700 0
dbSNP: rs7850258
rs7850258
PTCSC2
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.820 1.000 4 2011 2019
dbSNP: rs1443438
rs1443438
PTCSC2
8 0.827 0.080 9 97787746 intron variant T/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs17696736
rs17696736
NAA25
18 0.827 0.240 12 112049014 intron variant A/G snv 0.30 0.700 1.000 1 2012 2012
dbSNP: rs3807307
rs3807307
IRF5
6 0.827 0.120 7 128939148 intron variant T/C snv 0.41 0.700 1.000 1 2019 2019
dbSNP: rs60600003
rs60600003
ELMO1
7 0.827 0.120 7 37342861 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs6906021
rs6906021
HLA-DQB1-AS1
6 0.827 0.320 6 32658534 upstream gene variant T/C snv 0.47 0.010 1.000 1 2016 2016
dbSNP: rs732609
rs732609
TPO
5 0.827 0.160 2 1496155 missense variant A/C;G snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs78534766
rs78534766
ADCY7
7 0.827 0.080 16 50301163 missense variant C/A snv 4.3E-03 3.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs1085308047
rs1085308047
PTEN ; KLLN
6 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
dbSNP: rs28939701
rs28939701
ABCC6
12 0.827 0.240 16 16163087 missense variant G/A snv 4.4E-05 3.5E-05 0.700 0
dbSNP: rs11675342
rs11675342
TPO
5 0.851 0.040 2 1403856 intron variant C/T snv 0.40 0.700 1.000 3 2016 2019
dbSNP: rs370991693
rs370991693
TG ; LOC105375768
4 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.020 1.000 2 2008 2009
dbSNP: rs1032129
rs1032129
TNFRSF11B
5 0.851 0.040 8 118939661 intron variant A/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs10424978
rs10424978 		4 0.851 0.080 19 4837545 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1050976
rs1050976
IRF4
4 0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs11066188
rs11066188
HECTD4
7 0.851 0.320 12 112172910 intron variant G/A;C snv 0.30; 4.1E-06 0.700 1.000 1 2012 2012
dbSNP: rs11073337
rs11073337
RASGRP1
5 0.851 0.040 15 38555562 intron variant A/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs114378220
rs114378220
CAMK4
5 0.851 0.040 5 111230662 intron variant C/T snv 4.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs114558062
rs114558062 		5 0.851 0.040 3 187923342 intergenic variant T/C snv 6.6E-03 0.700 1.000 1 2019 2019