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: rs1330225
rs1330225
3 1 106293321 intergenic variant T/C snv 0.38 0.700 1.000 1 2013 2013
dbSNP: rs13306556
rs13306556
2 1 11792053 intron variant C/T snv 0.10 0.700 1.000 1 2018 2018
dbSNP: rs1350193
rs1350193
CSK
2 15 74791940 intron variant G/C snv 0.67 0.700 1.000 1 2018 2018
dbSNP: rs1458038
rs1458038
10 0.925 0.120 4 80243569 intergenic variant C/T snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs148514273
rs148514273
2 4 139543924 intron variant G/A snv 2.4E-02 0.700 1.000 1 2017 2017
dbSNP: rs1530440
rs1530440
6 1.000 0.040 10 61764833 intron variant C/T snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs1579381
rs1579381
2 12 115118002 intergenic variant C/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs1689040
rs1689040
4 12 89584456 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs16948048
rs16948048
8 0.925 0.040 17 49363104 intron variant A/G snv 0.37 0.700 1.000 1 2009 2009
dbSNP: rs17035646
rs17035646
6 1 10736490 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs17135875
rs17135875
3 7 102878584 intron variant T/C snv 0.24 0.700 1.000 1 2013 2013
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.700 1.000 1 2011 2011
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.700 1.000 1 2018 2018
dbSNP: rs1894400
rs1894400
FES
5 15 90885725 intron variant C/T snv 0.28 0.700 1.000 1 2018 2018
dbSNP: rs1918974
rs1918974
3 1.000 0.040 3 169448100 intron variant C/T snv 0.57 0.700 1.000 1 2009 2009
dbSNP: rs1980235
rs1980235
2 12 89717005 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs198851
rs198851
15 6 26104404 downstream gene variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs2013002
rs2013002
5 12 111762346 intron variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs2030114
rs2030114
2 16 51576036 intron variant G/A snv 0.23 0.700 1.000 1 2013 2013
dbSNP: rs2306363
rs2306363
7 11 65638129 5 prime UTR variant G/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs2384550
rs2384550
5 1.000 0.040 12 114914926 regulatory region variant G/A snv 0.33 0.700 1.000 1 2009 2009
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2627282
rs2627282
3 8 2923434 upstream gene variant G/A snv 0.25 0.700 1.000 1 2013 2013
dbSNP: rs2681472
rs2681472
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.700 1.000 1 2009 2009
dbSNP: rs3753584
rs3753584
10 0.827 0.080 1 11804529 5 prime UTR variant T/C snv 0.14 0.700 1.000 1 2018 2018