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: rs602662
rs602662
16 0.716 0.280 19 48703728 missense variant G/A snv 0.40 0.47 0.800 1.000 3 2009 2017
dbSNP: rs1801222
rs1801222
5 0.925 0.160 10 17114152 missense variant A/G snv 0.73 0.72 0.800 1.000 2 2009 2014
dbSNP: rs492602
rs492602
7 0.925 0.120 19 48703160 synonymous variant A/G snv 0.38 0.45 0.800 1.000 2 2008 2014
dbSNP: rs1047781
rs1047781
11 0.790 0.200 19 48703374 missense variant A/T snv 3.6E-02 1.2E-02 0.800 1.000 1 2012 2012
dbSNP: rs10515552
rs10515552
1 5 145659268 intron variant T/C snv 6.7E-02 0.800 1.000 1 2012 2012
dbSNP: rs11254363
rs11254363
2 1.000 0.040 10 17088694 intron variant A/G snv 0.26 0.800 1.000 1 2009 2009
dbSNP: rs2298585
rs2298585
1 11 60069719 intron variant C/T snv 1.6E-02 2.3E-02 0.800 1.000 1 2012 2012
dbSNP: rs3760776
rs3760776
3 0.925 0.120 19 5839735 upstream gene variant G/A snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs41281112
rs41281112
1 13 99866380 stop gained C/T snv 2.8E-02 2.2E-02 0.800 1.000 1 2012 2012
dbSNP: rs526934
rs526934
3 0.925 0.080 11 59866020 intron variant G/A snv 0.77 0.800 1.000 1 2009 2009
dbSNP: rs9473555
rs9473555
1 6 49441774 intron variant G/C snv 0.36 0.800 1.000 1 2009 2009
dbSNP: rs34324219
rs34324219
2 11 59855905 missense variant C/A snv 8.6E-02 9.0E-02 0.700 1.000 2 2014 2017
dbSNP: rs4654748
rs4654748
3 1.000 0.040 1 21459575 intron variant C/T snv 0.38 0.700 1.000 2 2009 2009
dbSNP: rs10986018
rs10986018
2 9 98361054 intron variant T/C snv 7.9E-02 0.700 1.000 1 2009 2009
dbSNP: rs12085006
rs12085006
2 1 11898666 intergenic variant A/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1256335
rs1256335
2 1 21563893 intron variant G/A snv 0.80 0.700 1.000 1 2009 2009
dbSNP: rs146226203
rs146226203
1 5 150806264 intergenic variant C/G snv 3.1E-03 0.700 1.000 1 2013 2013
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.700 1.000 1 2009 2009
dbSNP: rs2287921
rs2287921
4 1.000 0.040 19 48725015 non coding transcript exon variant T/C snv 0.37 0.700 1.000 1 2014 2014
dbSNP: rs3760775
rs3760775
2 19 5841345 upstream gene variant G/T snv 0.15 0.700 1.000 1 2017 2017
dbSNP: rs708686
rs708686
3 19 5840608 upstream gene variant C/T snv 0.46 0.700 1.000 1 2017 2017
dbSNP: rs982393
rs982393
2 2 163634019 intron variant A/C;T snv 0.700 1.000 1 2009 2009