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: rs10510057
rs10510057
3 0.925 0.080 10 119551536 intergenic variant G/C snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs10766075
rs10766075
6 0.925 0.080 11 13297040 intron variant C/T snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs1082214
rs1082214
MIP
6 0.925 0.080 12 56452706 non coding transcript exon variant C/T snv 9.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs10988134
rs10988134
4 0.925 0.080 9 128833128 3 prime UTR variant C/T snv 0.34 0.010 1.000 1 2018 2018
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: rs11022778
rs11022778
6 0.925 0.080 11 13369313 intron variant T/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs112025902
rs112025902
4 0.925 0.080 4 120232669 intron variant A/G;T snv 0.010 1.000 1 2016 2016
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: rs115482041
rs115482041
4 0.925 0.080 9 4860267 missense variant C/T snv 2.6E-03 2.3E-03 0.010 1.000 1 2018 2018
dbSNP: rs11824092
rs11824092
7 0.925 0.080 11 13324747 intron variant T/C snv 0.62 0.010 1.000 1 2014 2014
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: rs12936511
rs12936511
5 0.925 0.080 17 45807036 synonymous variant C/T snv 3.1E-02 3.0E-02 0.010 1.000 1 2009 2009
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: rs1415259
rs1415259
5 0.925 0.080 1 162115519 intron variant C/T snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs1491850
rs1491850
6 0.925 0.080 11 27728178 intron variant T/C snv 0.37 0.010 1.000 1 2011 2011
dbSNP: rs1491851
rs1491851
4 0.925 0.080 11 27731216 intron variant T/C;G snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs156243
rs156243
6 0.925 0.080 6 104416939 intergenic variant G/A snv 0.65 0.010 1.000 1 2014 2014
dbSNP: rs174696
rs174696
3 0.925 0.080 22 19965653 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1800035
rs1800035
4 0.925 0.080 10 111078794 missense variant C/G;T snv 1.9E-03 0.010 < 0.001 1 2006 2006