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: rs10842750
rs10842750
ITPR2
2 0.925 0.120 12 26537632 intron variant A/C;T snv 0.710 1.000 1 2015 2015
dbSNP: rs7745040
rs7745040 		2 0.925 0.120 6 32696555 intergenic variant T/C snv 0.39 0.030 0.667 3 2011 2016
dbSNP: rs9275295
rs9275295 		2 0.925 0.120 6 32695614 intergenic variant A/G snv 0.53 0.030 1.000 3 2011 2016
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.020 < 0.001 2 2013 2016
dbSNP: rs5748469
rs5748469
TXNRD2
3 0.882 0.120 22 19919576 missense variant C/A snv 0.45 0.36 0.020 < 0.001 2 2013 2016
dbSNP: rs1002835
rs1002835
ITPR2
1 1.000 0.040 12 26539294 intron variant T/A snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs1016874323
rs1016874323
HABP2
1 1.000 0.040 10 113583247 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.010 < 0.001 1 2013 2013
dbSNP: rs1064794311
rs1064794311
TP53
1 1.000 0.040 17 7674214 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs11048526
rs11048526
ITPR2
1 1.000 0.040 12 26449331 intron variant G/A snv 2.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11048570
rs11048570
ITPR2
1 1.000 0.040 12 26539754 intron variant G/A snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs11048572
rs11048572
ITPR2
1 1.000 0.040 12 26540242 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs11208030
rs11208030
ATG4C
1 1.000 0.040 1 62787158 intron variant G/A snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs1144396
rs1144396
WTAPP1
1 1.000 0.040 11 102808321 intron variant C/A;G snv 0.010 1.000 1 2016 2016
dbSNP: rs12097658
rs12097658
ATG4C
1 1.000 0.040 1 62847648 intron variant T/C snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs1278300
rs1278300
ADAM12
1 1.000 0.040 10 126102615 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs1318607214
rs1318607214
GORASP1
1 1.000 0.040 3 39099384 frameshift variant GGCTGAAG/- delins 0.010 1.000 1 2010 2010
dbSNP: rs1352815
rs1352815 		1 1.000 0.040 14 80100388 intergenic variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1388382
rs1388382 		1 1.000 0.040 14 80118358 intergenic variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs142463796
rs142463796
COL10A1 ; NT5DC1
1 1.000 0.040 6 116121734 missense variant C/T snv 6.8E-03 2.2E-03 0.010 1.000 1 2017 2017
dbSNP: rs1531928
rs1531928
ITPR2
1 1.000 0.040 12 26538266 intron variant A/G snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs1656966
rs1656966 		2 0.925 0.080 3 186748463 intron variant G/A snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs16931011
rs16931011
ITPR2
1 1.000 0.040 12 26575582 intron variant A/G snv 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1800668
rs1800668
GPX1
3 0.882 0.120 3 49358324 5 prime UTR variant G/A snv 0.29 0.28 0.010 < 0.001 1 2013 2013
dbSNP: rs2017510
rs2017510
ITPR2
1 1.000 0.040 12 26541007 intron variant A/T snv 0.57 0.010 1.000 1 2015 2015