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: rs879254933
rs879254933
LDLR ; MIR6886
4 0.882 0.160 19 11113708 frameshift variant -/A delins 0.700 0
dbSNP: rs906600204
rs906600204
LLGL2
1 1.000 0.080 17 75569087 frameshift variant -/ACTT delins 0.010 1.000 1 2009 2009
dbSNP: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.030 0.667 3 2015 2018
dbSNP: rs1555808111
rs1555808111
LDLR
3 0.925 0.160 19 11123284 frameshift variant -/GCTG delins 0.700 0
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.010 1.000 1 2017 2017
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.020 1.000 2 2010 2016
dbSNP: rs34234989
rs34234989
PROCR ; MMP24-AS1-EDEM2
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs11498973
rs11498973 		1 1.000 0.080 10 84732025 intergenic variant A/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs1524668
rs1524668
ADAM17
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs1648707
rs1648707 		3 0.925 0.080 3 186833922 intergenic variant A/C snv 0.43 0.010 1.000 1 2018 2018
dbSNP: rs17110453
rs17110453
CYP2C8
2 0.925 0.080 10 95069772 upstream gene variant A/C snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1711972
rs1711972
FOXF2 ; LOC105374880
3 0.925 0.160 6 1388953 upstream gene variant A/C snv 4.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs2230501
rs2230501
PRKCH
1 1.000 0.080 14 61457523 synonymous variant A/C snv 3.1E-02 1.6E-02 0.010 1.000 1 2014 2014
dbSNP: rs2650000
rs2650000
HNF1A-AS1
10 0.851 0.200 12 120951159 intron variant A/C snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs3093105
rs3093105
CYP4F2
2 0.925 0.080 19 15897578 missense variant A/C snv 0.16 0.18 0.010 1.000 1 2015 2015
dbSNP: rs3134069
rs3134069
TNFRSF11B ; COLEC10
11 0.776 0.320 8 118952749 upstream gene variant A/C snv 9.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs3818416
rs3818416
EDNRB ; EDNRB-AS1
3 1.000 0.080 13 77900333 intron variant A/C snv 0.75 0.010 1.000 1 2014 2014
dbSNP: rs5186
rs5186
AGTR1
38 0.630 0.560 3 148742201 3 prime UTR variant A/C snv 0.23 0.21 0.010 1.000 1 2014 2014
dbSNP: rs6577555
rs6577555
MIR34A ; MIR34AHG
1 1.000 0.080 1 9152228 intron variant A/C snv 0.74 0.010 < 0.001 1 2019 2019
dbSNP: rs6690733
rs6690733
DOCK7
2 1.000 0.080 1 62594640 intron variant A/C snv 0.43 0.010 1.000 1 2019 2019
dbSNP: rs7202008
rs7202008
ZDHHC7
1 1.000 0.080 16 84985897 intron variant A/C snv 1.2E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs7248488
rs7248488
ZNF208
5 0.851 0.160 19 22005907 intron variant A/C snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs783396
rs783396
CRYBG1
2 1.000 0.080 6 106539495 missense variant A/C snv 0.93 0.93 0.010 1.000 1 2012 2012
dbSNP: rs9515201
rs9515201
COL4A2
3 0.925 0.080 13 110388451 intron variant A/C snv 0.63 0.010 1.000 1 2017 2017
dbSNP: rs1052053
rs1052053
PMF1 ; PMF1-BGLAP
3 1.000 0.080 1 156232382 missense variant A/C;G snv 1.0E-03; 0.38 0.700 1.000 1 2018 2018