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: rs1057518799
rs1057518799
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1562203136
rs1562203136
9 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
dbSNP: rs1555453538
rs1555453538
7 0.807 0.280 15 89326678 frameshift variant A/- delins 0.700 1.000 3 2010 2017
dbSNP: rs17020055
rs17020055
1 1.000 0.040 1 107793911 intron variant A/C snv 0.11 0.800 1.000 2 2012 2016
dbSNP: rs1032129
rs1032129
5 0.851 0.040 8 118939661 intron variant A/C snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs10984103
rs10984103
2 0.925 0.080 9 97876993 TF binding site variant A/C snv 0.68 0.700 1.000 1 2012 2012
dbSNP: rs11073337
rs11073337
5 0.851 0.040 15 38555562 intron variant A/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs12138950
rs12138950
3 0.925 0.040 1 19512621 intron variant A/C snv 5.4E-03 0.700 1.000 1 2016 2016
dbSNP: rs13076468
rs13076468
1 1.000 0.040 3 4981276 intron variant A/C snv 0.27 0.700 1.000 1 2019 2019
dbSNP: rs17019823
rs17019823
1 1.000 0.040 1 107727331 intron variant A/C snv 9.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs17025117
rs17025117
1 1.000 0.040 4 148744675 intron variant A/C snv 0.30 0.700 1.000 1 2019 2019
dbSNP: rs5746009
rs5746009
1 1.000 0.040 1 12189511 intron variant A/C snv 8.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs7583027
rs7583027
1 1.000 0.040 2 62317256 intergenic variant A/C snv 0.74 0.700 1.000 1 2019 2019
dbSNP: rs794727931
rs794727931
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
dbSNP: rs10956412
rs10956412
1 1.000 0.040 8 128150251 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs732609
rs732609
TPO
5 0.827 0.160 2 1496155 missense variant A/C;G snv 0.43 0.010 1.000 1 2014 2014
dbSNP: rs9303234
rs9303234
1 1.000 0.040 17 8961373 intron variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2008 2011
dbSNP: rs10917477
rs10917477
2 1.000 0.040 1 19534612 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs7850258
rs7850258
6 0.827 0.200 9 97786731 intron variant A/G snv 0.72 0.820 1.000 4 2011 2019
dbSNP: rs10759944
rs10759944
4 0.925 0.080 9 97794690 intron variant A/G snv 0.72 0.710 1.000 3 2011 2014
dbSNP: rs2476601
rs2476601
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.800 1.000 3 2012 2019
dbSNP: rs1079418
rs1079418
1 1.000 0.040 6 165633546 intron variant A/G snv 0.32 0.700 1.000 2 2016 2019
dbSNP: rs10759927
rs10759927
1 1.000 0.040 9 97779894 intron variant A/G snv 0.72 0.700 1.000 1 2016 2016