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: rs111033199
rs111033199
3 0.882 0.160 7 107672245 missense variant G/A;C;T snv 1.8E-04; 4.0E-06 0.010 1.000 1 2011 2011
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: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2009 2009
dbSNP: rs11611206
rs11611206
4 0.851 0.200 12 68274666 intron variant G/A snv 0.15 0.010 1.000 1 2017 2017
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: rs12492609
rs12492609
3 0.882 0.040 3 119435715 intron variant C/T snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs13306186
rs13306186
1 1.000 0.040 16 28496924 missense variant C/G;T snv 1.7E-03; 5.3E-05 0.010 1.000 1 2018 2018
dbSNP: rs141185224
rs141185224
RET
2 0.925 0.080 10 43114681 missense variant G/A snv 1.1E-04 7.7E-05 0.010 1.000 1 2004 2004
dbSNP: rs148383040
rs148383040
1 1.000 0.040 2 40170319 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs150794546
rs150794546
1 1.000 0.040 6 32976655 missense variant G/A snv 4.1E-06 7.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs17606253
rs17606253
1 1.000 0.040 6 111205242 intron variant T/C snv 0.12 0.010 1.000 1 2017 2017
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2008 2008
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: rs200842352
rs200842352
1 1.000 0.040 17 82079563 missense variant C/A snv 6.2E-04 1.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs2076738
rs2076738
TG
6 0.807 0.200 8 132906843 missense variant T/C snv 1.6E-05 7.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs2277923
rs2277923
13 0.752 0.160 5 173235021 synonymous variant T/C snv 0.41 0.44 0.010 1.000 1 2017 2017
dbSNP: rs28936670
rs28936670
17 0.708 0.280 5 173235011 missense variant G/A snv 3.4E-03 1.1E-02 0.010 1.000 1 2017 2017
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: rs369572769
rs369572769
2 0.925 0.080 20 62312259 missense variant C/T snv 2.5E-05 1.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs371443644
rs371443644
2 0.925 0.160 16 56865414 missense variant C/T snv 5.6E-05 4.2E-05 0.010 1.000 1 2009 2009
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: rs539699299
rs539699299
4 0.851 0.160 7 107661725 missense variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.010 < 0.001 1 2008 2008