PMID: 29079728

PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies.

Nature communications
MA Hall, J Wallace, A Lucas, D Kim, AO Basile, SS Verma, CA McCarty, MH Brilliant, PL Peissig, TE Kitchner, A Verma, SA Pendergrass, SM Dudek, JH Moore, MD Ritchie
2017-10-27

74 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-191838204-C-T STAT1 c.2238+1352G>A - IntronicSNV - 24/24
2-191850766-C-A STAT1 c.1222-380G>T - IntronicSNV - 14/24
15-30071279-C-A TJP1 c.85-5719G>T - IntronicSNV - 2/27
2-191875901-C-A STAT1 c.1-1172G>T - IntronicSNV - 2/24
2-171690121-T-C GAD1 c.547+2419T>C - IntronicSNV - 5/16
2-44082362-A-G ABCG8 c.964+2355A>G - IntronicSNV - 6/12
15-42615492-A-G GANC c.1293+1274A>G - IntronicSNV - 11/23
2-44101827-G-A ABCG8 c.1488+205G>A - IntronicSNV - 10/12
9-120485795-A-G TLR4 c.*8869A>G - IntergenicSNV 3/3 -
15-29994474-G-A TJP1 c.5153-581C>T - IntronicSNV - 27/27
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
2-44080324-A-G ABCG8 c.964+317A>G - IntronicSNV - 6/12
2-191838514-G-A STAT1 c.2238+1042C>T - IntronicSNV - 24/24
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
2-44104925-T-C ABCG8 c.1895T>C p.Val632Ala Missense 13/13 -
2-171682740-C-T GAD1 c.146-3245C>T - IntronicSNV - 3/16
2-44102491-C-A ABCG8 c.1695C>A p.Ala565Ala Synonymous 11/13 -
2-44056590-G-A ABCG5 c.502-1336C>T - IntronicSNV - 4/12
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
2-44101430-T-A ABCG8 c.1412-116T>A - IntronicSNV - 9/12
2-44101430-T-C ABCG8 c.1412-116T>C - IntronicSNV - 9/12
2-44101430-T-G ABCG8 c.1412-116T>G - IntronicSNV - 9/12
10-26512375-C-T GAD2 c.521-441C>T - IntronicSNV - 4/16
2-44100849-T-C ABCG8 c.1212-77T>C - IntronicSNV - 8/12
2-44104925-T-A ABCG8 c.1895T>A p.Val632Asp Missense 13/13 -
2-44104925-T-G ABCG8 c.1895T>G p.Val632Gly Missense 13/13 -
2-44068291-C-T ABCG8 c.63+2036C>T - IntronicSNV - 1/12
9-120484009-G-A TLR4 c.*7083G>A - IntergenicSNV 3/3 -
15-29997079-A-G TJP1 c.5069-570T>C - IntronicSNV - 26/27
2-44068291-C-A ABCG8 c.63+2036C>A - IntronicSNV - 1/12
2-171702480-C-T GAD1 c.948-39C>T - IntronicSNV - 9/16
2-191867332-C-T STAT1 c.373-1443G>A - IntronicSNV - 5/24
10-26566456-C-A GAD2 c.1158-3482C>A - IntronicSNV - 11/16
2-202114026-G-T CASP8 c.-27+15191G>T - intron_variant - 2/9
9-120480812-T-C TLR4 c.*3886T>C - IntergenicSNV 3/3 -
10-26566456-C-T GAD2 c.1158-3482C>T - IntronicSNV - 11/16
2-202122995-A-G CASP8 c.1-8215A>G - IntronicSNV - 2/9
3-38184370-A-G MYD88 c.*1593A>G - 3-UTRSNV 5/5 -
10-26572842-A-G GAD2 c.1237-2432A>G - IntronicSNV - 12/16
2-44099433-C-A ABCG8 c.1199C>A p.Thr400Lys Missense 8/13 -
2-202119789-T-C CASP8 c.1-11421T>C - IntronicSNV - 2/9
2-44100871-G-A ABCG8 c.1212-55G>A - IntronicSNV - 8/12
2-44102235-T-C ABCG8 c.1489-50T>C - IntronicSNV - 10/12
17-40469598-C-T STAT3 c.2099-356G>A - IntronicSNV - 21/23
2-191855521-T-C STAT1 c.1037+433A>G - IntronicSNV - 11/24
2-171678379-C-T GAD1 c.83-218C>T - IntronicSNV - 2/16
2-44107742-G-T ABCG8 c.*2690G>T - IntergenicSNV 13/13 -
2-191835596-T-G STAT1 c.2239-153A>C - IntronicSNV - 24/24
2-191858636-A-C STAT1 c.944+1151T>G - IntronicSNV - 10/24
2-191854874-A-G STAT1 c.1038-474T>C - IntronicSNV - 11/24
3-38184021-A-G MYD88 c.*1244A>G - 3-UTRSNV 5/5 -
2-202131587-T-G CASP8 c.305+73T>G - IntronicSNV - 3/9
3-38173733-C-T ACAA1 c.324-237G>A - IntronicSNV - 3/11
10-26520487-G-A GAD2 c.840+1781G>A - IntronicSNV - 7/16
10-26527590-G-A GAD2 c.841-7260G>A - IntronicSNV - 7/16
17-40514201-A-G STAT3 c.1-13667T>C - IntronicSNV - 1/23
15-30071117-G-T TJP1 c.85-5557C>A - IntronicSNV - 2/27
2-44104067-G-A ABCG8 c.1757-633G>A - IntronicSNV - 11/12
2-44099433-C-T ABCG8 c.1199C>T p.Thr400Met Missense 8/13 -
6-159201833-C-T EZR c.698+2719G>A - IntronicSNV - 6/12
9-120480115-T-C TLR4 c.*3189T>C - IntergenicSNV 3/3 -
2-202114026-G-A CASP8 c.-27+15191G>A - intron_variant - 2/9
15-30020106-A-G TJP1 c.2100+35T>C - IntronicSNV - 16/27
11-68140782-G-C LRP5 c.1015+7612G>C - IntronicSNV - 5/22
11-68140782-G-A LRP5 c.1015+7612G>A - IntronicSNV - 5/22
4-154631563-T-C RNF175 c.945A>G p.Ile315Met Missense 9/9 -
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
2-44056590-G-C ABCG5 c.502-1336C>G - IntronicSNV - 4/12
2-202119767-T-A CASP8 c.1-11443T>A - IntronicSNV - 2/9
2-202119767-T-C CASP8 c.1-11443T>C - IntronicSNV - 2/9
2-202111380-A-G CASP8 c.-27+12545A>G - intron_variant - 2/9
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
2-44102491-C-T ABCG8 c.1695C>T p.Ala565Ala Synonymous 11/13 -