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: rs6972286
rs6972286 		2 1.000 0.040 7 118685680 intergenic variant A/T snv 0.43 0.700 1.000 1 2019 2019
dbSNP: rs13093110
rs13093110
LPP
4 0.882 0.120 3 188407332 intron variant C/T snv 0.42 0.700 1.000 1 2012 2012
dbSNP: rs9606615
rs9606615
IL17RA
1 1.000 0.040 22 17099923 intron variant T/C snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs179247
rs179247
TSHR
5 0.882 0.160 14 80966202 intron variant A/G snv 0.40 0.010 1.000 1 2017 2017
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 2018 2018
dbSNP: rs4903961
rs4903961
TSHR
2 0.925 0.120 14 80996305 intron variant C/G snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs11675434
rs11675434
TPO
5 0.827 0.240 2 1404043 non coding transcript exon variant C/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs11568820
rs11568820
VDR
27 0.672 0.480 12 47908762 intron variant C/T snv 0.38 0.010 < 0.001 1 2019 2019
dbSNP: rs12101255
rs12101255
TSHR
2 0.925 0.120 14 80984708 intron variant C/T snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs2076740
rs2076740
TG
5 0.827 0.160 8 132971813 missense variant C/T snv 0.31 0.37 0.010 1.000 1 2008 2008
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2012 2012
dbSNP: rs3087243
rs3087243
CTLA4
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs2227478
rs2227478
IL22 ; LOC105369818
2 0.925 0.040 12 68254842 upstream gene variant A/G snv 0.37 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
dbSNP: rs6887695
rs6887695 		14 0.732 0.440 5 159395637 intron variant G/C snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs731236
rs731236
VDR
81 0.542 0.760 12 47844974 synonymous variant A/G snv 0.33 0.34 0.010 1.000 1 2014 2014
dbSNP: rs11935941
rs11935941
LOC107986195
2 1.000 0.040 4 148731326 intron variant A/C snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs17759659
rs17759659
BCL2
4 0.851 0.120 18 63291411 intron variant A/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs5998672
rs5998672
UBE2L3
2 0.925 0.120 22 21612153 intron variant G/A snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs3733197
rs3733197
BANK1
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2013 2013
dbSNP: rs2270450
rs2270450
SLC25A27 ; LOC101926934
5 0.827 0.200 6 46677138 3 prime UTR variant C/T snv 0.29 0.700 1.000 1 2015 2015
dbSNP: rs17375018
rs17375018
IL23R ; C1orf141
7 0.790 0.360 1 67189464 intron variant G/A snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs10004195
rs10004195
TLR10
8 0.790 0.320 4 38783103 upstream gene variant T/A snv 0.29 0.010 1.000 1 2019 2019
dbSNP: rs2569192
rs2569192
CD14 ; TMCO6
2 0.925 0.120 5 140635623 upstream gene variant G/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1800591
rs1800591
MTTP
3 0.882 0.120 4 99574331 intron variant G/T snv 0.26 0.010 1.000 1 2014 2014