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: rs10090787
rs10090787
SNTB1 ; LOC107986874
3 1.000 0.080 8 120798309 intron variant C/T snv 0.34 0.010 1.000 1 2017 2017
dbSNP: rs1816158
rs1816158
MIR100HG
3 0.925 0.200 11 122155752 intron variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs34329
rs34329
CDKN1B
2 1.000 0.080 12 12720299 intron variant G/C snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs7778413
rs7778413
SND1
2 1.000 0.080 7 127717662 intron variant T/C snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs3757769
rs3757769
SND1
2 1.000 0.080 7 127901009 intron variant A/G snv 9.7E-02 0.010 1.000 1 2020 2020
dbSNP: rs7799039
rs7799039
LOC105375494
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs987525
rs987525
CCDC26
7 0.807 0.160 8 128933908 intron variant C/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs12917
rs12917
MGMT ; LOC105378560
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 < 0.001 1 2010 2010
dbSNP: rs928674
rs928674
LAMC3
6 0.827 0.080 9 131076637 intron variant A/G snv 0.16 0.700 1.000 1 2016 2016
dbSNP: rs77452476
rs77452476
LAMC3
7 0.827 0.080 9 131087186 intron variant T/G snv 0.18 0.700 1.000 1 2016 2016
dbSNP: rs2243250
rs2243250
IL4
61 0.570 0.760 5 132673462 upstream gene variant C/T snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs3813867
rs3813867
CYP2E1 ; LOC107984284
13 0.732 0.240 10 133526101 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs2031920
rs2031920
CYP2E1 ; LOC107984284
20 0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs10462706
rs10462706
CLPTM1L
6 0.827 0.080 5 1343679 intron variant C/T snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2018 2018
dbSNP: rs2040639
rs2040639
XRCC2
2 1.000 0.080 7 152678103 upstream gene variant T/C;G snv 0.020 1.000 2 2008 2015
dbSNP: rs4696480
rs4696480
TLR2
19 0.716 0.400 4 153685974 intron variant T/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs2120243
rs2120243
VEPH1
3 0.925 0.200 3 157429779 intron variant A/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs3816527
rs3816527
PTX3 ; VEPH1
9 0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64 0.010 1.000 1 2019 2019
dbSNP: rs221236
rs221236 		2 1.000 0.120 7 157529938 downstream gene variant G/A snv 0.96 0.010 1.000 1 2014 2014
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs629849
rs629849
IGF2R
9 0.827 0.160 6 160073377 missense variant A/C;G;T snv 0.90 0.91 0.010 1.000 1 2012 2012
dbSNP: rs2046463
rs2046463
LOC105377555
3 1.000 0.080 4 176681548 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs7664413
rs7664413
VEGFC ; LOC105377555
7 0.851 0.160 4 176687553 intron variant C/T snv 0.24 0.25 0.010 1.000 1 2013 2013