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: rs121913294
rs121913294
PTEN
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 0
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2009 2015
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1207011218
rs1207011218
CTLA4
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2007 2007
dbSNP: rs179247
rs179247
TSHR
5 0.882 0.160 14 80966202 intron variant A/G snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2010 2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs2074451
rs2074451
GPX4
3 0.925 0.080 19 1107036 downstream gene variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs27178
rs27178
PDE4D
1 5 59291199 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs28665122
rs28665122
SELENOS
7 0.807 0.240 15 101277522 upstream gene variant C/T snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs3746165
rs3746165
GPX4
3 0.925 0.080 19 1102212 upstream gene variant A/G snv 0.54 0.010 1.000 1 2017 2017
dbSNP: rs4522865
rs4522865
BANK1
4 0.882 0.240 4 101794731 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs4684677
rs4684677
GHRL ; GHRLOS
13 0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs4704397
rs4704397
PDE8B
13 0.807 0.200 5 77222617 intron variant G/A snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs5742909
rs5742909
CTLA4
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs6438552
rs6438552
GSK3B
9 0.790 0.280 3 119912967 intron variant A/G snv 0.54 0.010 1.000 1 2018 2018
dbSNP: rs6865453
rs6865453
SELENOP
1 5 42810037 intron variant A/C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs7080536
rs7080536
HABP2 ; NRAP
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.010 1.000 1 2016 2016
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2017 2017
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