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: rs12256138
rs12256138
1 1.000 0.040 10 71336479 intron variant C/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs7182853
rs7182853
1 1.000 0.040 15 66469947 intron variant T/C snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs1003880422
rs1003880422
TH
2 0.925 0.080 11 2166716 missense variant G/A;T snv 6.9E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs11240
rs11240
2 0.925 0.080 4 55453183 3 prime UTR variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs10510057
rs10510057
3 0.925 0.080 10 119551536 intergenic variant G/C snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs10997871
rs10997871
3 0.925 0.080 10 67913178 intron variant T/C snv 4.1E-03 0.010 1.000 1 2019 2019
dbSNP: rs1187329
rs1187329
3 0.925 0.080 9 84674365 intron variant A/G snv 0.52 0.010 1.000 1 2009 2009
dbSNP: rs12137417
rs12137417
3 0.925 0.080 1 231950407 intron variant G/A snv 0.17 0.010 1.000 1 2011 2011
dbSNP: rs12229394
rs12229394
3 0.925 0.080 12 71999134 intron variant G/A snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs1364647619
rs1364647619
3 0.925 0.080 2 25161334 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs139832701
rs139832701
3 0.925 0.080 3 8773124 intron variant T/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1432441
rs1432441
3 0.882 0.040 15 66426943 intron variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1549854
rs1549854
3 0.882 0.040 15 66404397 intron variant A/C;G snv 0.44 0.010 1.000 1 2017 2017
dbSNP: rs174696
rs174696
3 0.925 0.080 22 19965653 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1937863
rs1937863
3 0.925 0.080 10 5009340 intron variant G/A;C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2133450
rs2133450
3 0.925 0.080 3 7294765 intron variant A/C snv 0.38 0.010 1.000 1 2017 2017
dbSNP: rs2412646
rs2412646
3 0.882 0.120 4 55452605 3 prime UTR variant T/C snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs242939
rs242939
3 0.882 0.120 17 45818213 intron variant C/T snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs2793094
rs2793094
3 0.925 0.080 1 231741236 intron variant G/A snv 0.97 0.010 1.000 1 2011 2011
dbSNP: rs33990840
rs33990840
3 0.925 0.080 1 206116320 missense variant C/G;T snv 5.0E-02; 2.8E-05 0.010 1.000 1 2013 2013
dbSNP: rs4658966
rs4658966
3 0.925 0.080 1 231942868 intron variant T/C snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs553040076
rs553040076
3 0.925 0.080 19 10417700 missense variant T/A snv 4.5E-05 7.7E-05 0.010 1.000 1 2007 2007
dbSNP: rs5558
rs5558
3 0.925 0.080 16 55699647 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs6704393
rs6704393
3 0.925 0.080 1 162182266 intron variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs747052707
rs747052707
3 0.925 0.080 11 49192822 missense variant T/C snv 2.4E-05; 8.1E-06 0.010 1.000 1 2007 2007