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: rs225014
rs225014
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.050 1.000 5 2013 2019
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: rs11675342
rs11675342
TPO
5 0.851 0.040 2 1403856 intron variant C/T snv 0.40 0.700 1.000 3 2016 2019
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: rs10748781
rs10748781
11 0.763 0.160 10 99523573 upstream gene variant C/A;G snv 0.700 1.000 2 2016 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: 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: rs17020055
rs17020055
1 1.000 0.040 1 107793911 intron variant A/C snv 0.11 0.800 1.000 2 2012 2016
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.700 1.000 2 2016 2019
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.800 1.000 2 2012 2019
dbSNP: rs370991693
rs370991693
4 0.851 0.160 8 133017916 missense variant C/A snv 4.4E-05 2.8E-05 0.020 1.000 2 2008 2009
dbSNP: rs925489
rs925489
6 0.882 0.080 9 97784318 intron variant C/T snv 0.71 0.800 1.000 2 2011 2012
dbSNP: rs965513
rs965513
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs10036386
rs10036386
2 1.000 0.040 5 77247778 intron variant C/T snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs10180754
rs10180754
1 1.000 0.040 2 181238244 splice region variant G/A snv 0.35 0.700 1.000 1 2019 2019
dbSNP: rs10223666
rs10223666
3 1.000 0.040 6 43837765 intron variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs10277273
rs10277273
1 1.000 0.040 7 4745498 intron variant T/C;G snv 0.700 1.000 1 2019 2019
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: rs10424978
rs10424978
4 0.851 0.080 19 4837545 upstream gene variant C/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1047578
rs1047578
1 1.000 0.040 12 112027325 3 prime UTR variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs10489626
rs10489626
1 1.000 0.040 1 67327488 intron variant C/G;T snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs1050976
rs1050976
4 0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs1057516033
rs1057516033
9 0.807 0.400 10 75025250 splice donor variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1064191
rs1064191
1 1.000 0.040 6 31107598 downstream gene variant T/A;C snv 0.700 1.000 1 2012 2012