Source: ALL
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: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2019 2019
dbSNP: rs1878327
rs1878327
MFGE8
2 0.925 0.120 15 88907315 synonymous variant C/T snv 0.61 0.67 0.010 1.000 1 2019 2019
dbSNP: rs238406
rs238406
ERCC2
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2019 2019
dbSNP: rs2740574
rs2740574
CYP3A4
12 0.807 0.360 7 99784473 upstream gene variant C/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs3743388
rs3743388
MFGE8
2 0.925 0.120 15 88905906 splice region variant C/A;G snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs4945
rs4945
MFGE8
2 0.925 0.120 15 88913313 missense variant G/T snv 0.38 0.31 0.010 1.000 1 2019 2019
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
44 0.611 0.720 22 23894205 intron variant G/C snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs117927258
rs117927258 		2 1.000 0.080 6 47108781 intergenic variant T/C snv 2.6E-04 0.700 1.000 1 2018 2018
dbSNP: rs145080284
rs145080284 		2 1.000 0.080 10 94662973 intergenic variant C/G snv 2.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs75466870
rs75466870 		2 1.000 0.080 5 126346163 intron variant A/T snv 5.5E-03 0.700 1.000 1 2018 2018
dbSNP: rs78844412
rs78844412
LINC02745
2 1.000 0.080 11 42131190 intron variant T/A snv 8.9E-04 0.700 1.000 1 2018 2018
dbSNP: rs1005734
rs1005734
RUNX3 ; LOC105376878
1 1.000 0.080 1 24935531 intron variant C/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs10193725
rs10193725
WNT6
1 1.000 0.080 2 218861775 intron variant T/C snv 0.37 0.700 1.000 1 2017 2017
dbSNP: rs10225279
rs10225279
TWIST1
1 1.000 0.080 7 19093449 intron variant G/T snv 0.57 0.700 1.000 1 2017 2017
dbSNP: rs10278449
rs10278449
HDAC9 ; HDAC9-AS1
1 1.000 0.080 7 18891596 intron variant C/T snv 0.74 0.700 1.000 1 2017 2017
dbSNP: rs10502861
rs10502861
SLC14A2
7 0.807 0.080 18 45220183 intron variant C/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs10516537
rs10516537
LOC105377356
1 1.000 0.080 4 106706914 intron variant A/C snv 0.84 0.700 1.000 1 2017 2017
dbSNP: rs10771462
rs10771462 		1 1.000 0.080 12 29004395 intergenic variant G/A snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs10808813
rs10808813
ZFHX4-AS1
1 1.000 0.080 8 76604707 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1081073
rs1081073
EBF1
1 1.000 0.080 5 158954504 intron variant T/A snv 0.39 0.700 1.000 1 2017 2017
dbSNP: rs10843003
rs10843003 		1 1.000 0.080 12 27834007 intergenic variant T/G snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs10888690
rs10888690
FAF1
7 0.807 0.080 1 50494849 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10903128
rs10903128 		1 1.000 0.080 1 25036847 upstream gene variant A/G snv 0.68 0.700 1.000 1 2017 2017