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: rs1915087
rs1915087
2 0.925 0.080 3 122119944 3 prime UTR variant T/C snv 0.020 1.000 2 2015 2018
dbSNP: rs11216153
rs11216153
2 0.925 0.080 11 116834384 upstream gene variant G/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1153879
rs1153879
2 0.925 0.080 3 136392816 intron variant G/T snv 0.010 1.000 1 2014 2014
dbSNP: rs11666254
rs11666254
2 0.925 0.080 19 51759909 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs11684747
rs11684747
2 0.925 0.080 2 9557042 upstream gene variant A/G snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11689958
rs11689958
2 0.925 0.080 2 9557277 upstream gene variant G/A snv 0.19 0.010 1.000 1 2016 2016
dbSNP: rs12605436
rs12605436
2 0.925 0.080 18 35906684 upstream gene variant C/T snv 9.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1419560997
rs1419560997
2 0.925 0.080 11 117993410 splice region variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1429638
rs1429638
2 0.925 0.080 4 73872213 downstream gene variant C/A;G snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs17602729
rs17602729
2 0.925 0.080 1 114693436 stop gained G/A;T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1891320
rs1891320
2 0.925 0.080 1 19970618 upstream gene variant C/T snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs2332096
rs2332096
2 0.925 0.080 3 122102296 intron variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2715267
rs2715267
2 0.925 0.080 3 122052011 upstream gene variant G/A;T snv 0.010 < 0.001 1 2019 2019
dbSNP: rs2808530
rs2808530
2 0.925 0.080 9 98576823 intron variant A/C snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs41279766
rs41279766
2 0.925 0.080 2 118970217 missense variant C/G;T snv 2.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs4755453
rs4755453
2 0.925 0.080 11 36509094 intron variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs497116
rs497116
2 0.925 0.080 11 104892390 stop lost A/G snv 4.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs506027
rs506027
2 0.925 0.080 6 106326589 upstream gene variant G/A snv 0.57 0.010 1.000 1 2017 2017
dbSNP: rs5744105
rs5744105
2 0.925 0.080 1 223142735 intron variant G/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs595209
rs595209
2 0.925 0.080 11 126292326 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs8177375
rs8177375
2 0.925 0.080 11 126293169 3 prime UTR variant A/G snv 0.12 0.13 0.010 1.000 1 2010 2010
dbSNP: rs10506481
rs10506481
3 0.882 0.080 12 66250331 3 prime UTR variant T/C snv 9.0E-02 0.010 < 0.001 1 2011 2011
dbSNP: rs11137480
rs11137480
3 0.882 0.120 9 88989662 upstream gene variant G/C snv 0.37 0.010 < 0.001 1 2013 2013
dbSNP: rs12048215
rs12048215
3 0.882 0.160 1 247421289 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1475145065
rs1475145065
3 0.882 0.080 14 24574706 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006