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: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2012 2012
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.010 1.000 1 2012 2012
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: 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: rs17020088
rs17020088
1 1.000 0.040 1 107809190 intron variant T/C snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs17020139
rs17020139
1 1.000 0.040 1 107826861 intron variant G/A snv 9.0E-02 0.700 1.000 1 2019 2019
dbSNP: rs4915076
rs4915076
3 0.882 0.080 1 107816883 intron variant T/C snv 9.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs4915077
rs4915077
1 1.000 0.040 1 107823394 intron variant T/C snv 9.0E-02 0.800 1.000 1 2012 2012
dbSNP: rs78495697
rs78495697
1 1.000 0.040 1 107813097 intron variant C/T snv 9.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs12482947
rs12482947
5 0.851 0.040 21 42431928 intron variant T/C snv 0.57 0.700 1.000 1 2019 2019
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs121908862
rs121908862
2 0.925 0.120 14 81092563 missense variant T/A snv 0.010 1.000 1 1996 1996
dbSNP: rs121908866
rs121908866
3 0.882 0.120 14 81143695 stop gained G/A snv 1.1E-04 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs1237473071
rs1237473071
2 0.925 0.040 14 81143791 missense variant T/C snv 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs189261858
rs189261858
8 0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04 0.010 < 0.001 1 2009 2009
dbSNP: rs6910071
rs6910071
7 0.790 0.320 6 32315077 intron variant A/G snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs771222349
rs771222349
1 1.000 0.040 8 109087904 missense variant T/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs11926768
rs11926768
1 1.000 0.040 3 36926856 intron variant T/C snv 0.36 0.700 1.000 1 2019 2019
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: rs1126797
rs1126797
TPO
1 1.000 0.040 2 1494031 missense variant C/A;G;T snv 0.37 0.010 1.000 1 2014 2014
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: rs797044484
rs797044484
10 0.776 0.400 3 189868624 missense variant C/G snv 0.700 1.000 1 2010 2010
dbSNP: rs3850641
rs3850641
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2016 2016
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