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: rs189889864
rs189889864 		2 0.925 0.040 9 104634643 downstream gene variant G/A snv 2.8E-03 0.700 1.000 1 2017 2017
dbSNP: rs190543502
rs190543502
TP53BP1
2 0.925 0.040 15 43464986 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs192427471
rs192427471 		2 0.925 0.040 4 124644124 intergenic variant C/T snv 2.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs1994016
rs1994016
ADAMTS7
7 0.851 0.160 15 78787892 intron variant C/T snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs201052613
rs201052613 		3 0.882 0.080 1 173026503 intron variant T/-;TT delins 9.4E-03 0.700 1.000 1 2017 2017
dbSNP: rs201394051
rs201394051 		2 0.925 0.040 5 117697919 intergenic variant TA/-;TATA;TATATA delins 0.700 1.000 1 2017 2017
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs2235312
rs2235312
APLN
3 0.882 0.160 X 129653118 intron variant A/G snv 0.31 0.010 1.000 1 2016 2016
dbSNP: rs2733201
rs2733201
FRMD5
2 0.925 0.040 15 44116203 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2768759
rs2768759 		4 0.851 0.200 1 156882671 downstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.010 1.000 1 2017 2017
dbSNP: rs3087459
rs3087459
EDN1
2 0.925 0.160 6 12289406 upstream gene variant A/C snv 0.20 0.010 1.000 1 2014 2014
dbSNP: rs35610040
rs35610040
CST3
2 1.000 0.040 20 23635832 intron variant T/C snv 0.19 0.700 1.000 1 2014 2014
dbSNP: rs3761581
rs3761581
APLN
5 0.851 0.160 X 129655744 upstream gene variant A/C snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs3784929
rs3784929
KARS1
2 0.925 0.160 16 75643129 intron variant A/G snv 0.30 0.010 < 0.001 1 2016 2016
dbSNP: rs3850641
rs3850641
TNFSF4
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs41273215
rs41273215
PEAR1
3 0.882 0.160 1 156912167 intron variant C/T snv 0.13 0.010 1.000 1 2018 2018
dbSNP: rs4357117
rs4357117
LOC107986540
2 0.925 0.040 6 66873865 intergenic variant G/T snv 1.7E-02 0.700 1.000 1 2017 2017
dbSNP: rs4668123
rs4668123
LRP2
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs4769874
rs4769874
ALOX5AP
5 0.827 0.240 13 30752304 intron variant G/A snv 5.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs57578064
rs57578064
TOMM5
2 0.925 0.040 9 37590253 intron variant G/A snv 1.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs6139591
rs6139591
SLC23A2
1 1.000 0.040 20 4970713 intron variant G/A snv 0.40 0.010 1.000 1 2013 2013
dbSNP: rs622064
rs622064
DNAJB13
3 0.882 0.240 11 73961529 intron variant C/A snv 0.30 0.010 < 0.001 1 2016 2016
dbSNP: rs62471956
rs62471956 		1 1.000 0.040 7 99823462 upstream gene variant G/A snv 3.4E-02 0.700 1.000 1 2015 2015