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: rs11456119
rs11456119
DYNC1I1
2 0.925 0.040 7 96089185 intron variant A/-;AA;AAA delins 0.700 1.000 1 2019 2019
dbSNP: rs4144502
rs4144502
CRADD
2 0.925 0.040 12 93787552 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs2929451
rs2929451 		1 1.000 0.040 8 9227785 intron variant A/T snv 0.50 0.700 1.000 1 2019 2019
dbSNP: rs17887218
rs17887218
TGFBR3
2 0.925 0.040 1 91714361 intron variant C/T snv 4.0E-02 0.700 1.000 1 2018 2018
dbSNP: rs12885713
rs12885713
CALM1
5 0.827 0.200 14 90397013 intron variant C/A;G;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs11105466
rs11105466
LOC105369890
2 0.925 0.040 12 89933142 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs17524488
rs17524488
SPP1
4 0.925 0.040 4 87975555 non coding transcript exon variant -/G delins 0.010 1.000 1 2015 2015
dbSNP: rs11730582
rs11730582
SPP1
10 0.807 0.240 4 87975269 non coding transcript exon variant T/C snv 0.37 0.010 < 0.001 1 2015 2015
dbSNP: rs11997261
rs11997261 		2 0.925 0.040 8 8666851 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11547160
rs11547160
TCF7L1
1 1.000 0.040 2 85309292 missense variant G/A snv 4.2E-02 3.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs12885300
rs12885300
DIO2 ; DIO2-AS1
7 0.790 0.200 14 80211923 5 prime UTR variant C/A;G;T snv 0.020 1.000 2 2008 2011
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2008 2008
dbSNP: rs9350591
rs9350591 		2 0.925 0.040 6 75531811 intergenic variant C/A;T snv 0.12 0.710 1.000 3 2015 2019
dbSNP: rs12209223
rs12209223
FILIP1 ; LOC101928540
2 1.000 0.040 6 75454873 intron variant C/A snv 7.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs200975846
rs200975846
CCDC33
2 0.925 0.040 15 74325252 intron variant T/- delins 0.700 1.000 1 2019 2019
dbSNP: rs3821262
rs3821262
TGFA
2 0.925 0.040 2 70493874 intron variant A/G snv 0.48 0.700 1.000 1 2019 2019
dbSNP: rs3771501
rs3771501
TGFA
2 0.925 0.040 2 70490521 intron variant A/G snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs7571789
rs7571789
TGFA
1 1.000 0.040 2 70487661 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs2521349
rs2521349
MAP2K6
2 0.925 0.040 17 69507360 intron variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs7164503
rs7164503
ANP32A
2 0.925 0.040 15 68789051 intron variant T/C snv 0.27 0.010 1.000 1 2009 2009
dbSNP: rs1470002
rs1470002
SMAD3
1 1.000 0.040 15 67177230 intron variant A/G snv 0.54 0.010 < 0.001 1 2018 2018
dbSNP: rs12901372
rs12901372
SMAD3
1 1.000 0.040 15 67078168 intron variant C/A;G snv 0.700 1.000 2 2018 2019
dbSNP: rs12901499
rs12901499
SMAD3
3 0.882 0.040 15 67078107 intron variant G/A snv 0.45 0.040 0.750 4 2010 2018
dbSNP: rs12901071
rs12901071
SMAD3
3 0.882 0.160 15 67078051 intron variant A/G snv 0.25 0.700 1.000 1 2018 2018
dbSNP: rs34419890
rs34419890 		1 1.000 0.040 11 66734153 upstream gene variant T/C snv 4.2E-02 0.700 1.000 1 2019 2019