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: rs4768412
rs4768412
PRICKLE1
2 0.925 0.200 12 42475338 intron variant C/T snv 0.32 0.800 1.000 1 2012 2012
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.800 1.000 1 2013 2013
dbSNP: rs57348955
rs57348955 		3 0.882 0.120 16 31174561 upstream gene variant G/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs9394159
rs9394159
ITPR3
1 1.000 0.120 6 33650385 intron variant A/T snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs179247
rs179247
TSHR
5 0.882 0.160 14 80966202 intron variant A/G snv 0.40 0.770 1.000 8 2009 2017
dbSNP: rs17111394
rs17111394
TSHR ; LOC101928462
1 1.000 0.120 14 81056784 intron variant T/C snv 0.13 0.710 1.000 2 2011 2019
dbSNP: rs2284038
rs2284038
RAC2
1 1.000 0.120 22 37239015 intron variant A/G snv 0.41 0.710 1.000 2 2013 2017
dbSNP: rs2284720
rs2284720
TSHR
1 1.000 0.120 14 80976823 intron variant A/G snv 0.18 0.710 1.000 2 2011 2013
dbSNP: rs2284722
rs2284722
TSHR
1 1.000 0.120 14 80978023 intron variant G/A snv 0.27 0.710 1.000 2 2011 2019
dbSNP: rs2300525
rs2300525
TSHR
1 1.000 0.120 14 81031049 intron variant T/C snv 0.24 0.710 1.000 2 2011 2019
dbSNP: rs231726
rs231726 		7 0.790 0.200 2 203876143 downstream gene variant C/T snv 0.36 0.710 1.000 2 2011 2019
dbSNP: rs312691
rs312691 		2 0.925 0.280 17 70330197 intron variant T/C snv 0.25 0.710 1.000 2 2012 2019
dbSNP: rs3783949
rs3783949
TSHR ; BHLHB9P1
1 1.000 0.120 14 80982038 non coding transcript exon variant T/G snv 0.48 0.710 1.000 2 2011 2014
dbSNP: rs4903964
rs4903964
TSHR
1 1.000 0.120 14 81002610 intron variant G/A;C snv 0.710 1.000 2 2011 2019
dbSNP: rs7537605
rs7537605
VAV3
3 0.882 0.120 1 107800465 intron variant G/A;T snv 0.710 1.000 1 2015 2015
dbSNP: rs10145099
rs10145099
TSHR
1 1.000 0.120 14 80990350 intron variant C/T snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs10197319
rs10197319 		1 1.000 0.120 2 203898321 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1044043
rs1044043
TAP2
1 1.000 0.120 6 32826204 3 prime UTR variant A/C snv 0.82 0.700 1.000 1 2011 2011
dbSNP: rs10908583
rs10908583 		1 1.000 0.120 1 157671893 downstream gene variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs1149386
rs1149386 		1 1.000 0.120 1 160471451 TF binding site variant G/C snv 0.96 0.700 1.000 1 2011 2011
dbSNP: rs116869525
rs116869525 		2 0.925 0.160 6 32421366 intergenic variant C/T snv 3.5E-03 0.700 1.000 1 2015 2015
dbSNP: rs12050151
rs12050151
CEP128
1 1.000 0.120 14 80902473 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs12451295
rs12451295 		2 0.925 0.280 17 70380682 intergenic variant C/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs12526548
rs12526548
FGFR1OP
1 1.000 0.120 6 167017659 intron variant C/T snv 0.43 0.700 1.000 1 2011 2011
dbSNP: rs12743184
rs12743184 		1 1.000 0.120 1 157784569 intergenic variant A/G snv 0.21 0.700 1.000 1 2011 2011