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: rs3025058
rs3025058
MMP3
26 0.658 0.600 11 102845217 upstream gene variant -/C;G ins 2.8E-04 0.020 1.000 2 2014 2015
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.010 1.000 1 2014 2014
dbSNP: rs1524668
rs1524668
ADAM17
4 0.851 0.160 2 9557243 upstream gene variant A/C snv 0.64 0.010 < 0.001 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: rs8003379
rs8003379
MTHFD1
3 0.882 0.160 14 64406881 intron variant A/C snv 0.23 0.010 1.000 1 2008 2008
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.020 1.000 2 2013 2019
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 0.500 6 2003 2017
dbSNP: rs10757278
rs10757278
CDKN2B-AS1
44 0.620 0.520 9 22124478 intron variant A/G snv 0.40 0.040 0.750 4 2008 2014
dbSNP: rs9316871
rs9316871 		1 1.000 0.040 13 22287782 intergenic variant A/G snv 0.22 0.710 0.500 2 2017 2020
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2020 2020
dbSNP: rs10757274
rs10757274
CDKN2B-AS1
22 0.701 0.320 9 22096056 intron variant A/G snv 0.41 0.700 1.000 1 2017 2017
dbSNP: rs12133641
rs12133641
IL6R
3 0.925 0.040 1 154455807 intron variant A/G snv 0.44 0.700 1.000 1 2017 2017
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 < 0.001 1 2014 2014
dbSNP: rs12692386
rs12692386
ADAM17
5 0.827 0.160 2 9555777 5 prime UTR variant A/G snv 0.72 0.010 1.000 1 2014 2014
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs2306691
rs2306691
LRP1 ; LRP1-AS
1 1.000 0.040 12 57145019 missense variant A/G snv 2.0E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs2383207
rs2383207
CDKN2B-AS1
22 0.695 0.280 9 22115960 intron variant A/G snv 0.64 0.800 1.000 1 2010 2010
dbSNP: rs13382862
rs13382862
LDAH
1 1.000 0.040 2 20682689 upstream gene variant A/G;T snv 0.59 0.700 1.000 1 2017 2017
dbSNP: rs6674171
rs6674171
TDRD10
1 1.000 0.040 1 154519207 intron variant A/G;T snv 0.19 0.010 1.000 1 2015 2015
dbSNP: rs2043211
rs2043211
CARD8
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 1.000 1 2011 2011
dbSNP: rs2234681
rs2234681
MMP9
2 1.000 0.040 20 46008773 upstream gene variant ACACACACACACACACACACACAC/-;AC;ACAC;ACACAC;ACACACAC;ACACACACAC;ACACACACACAC;ACACACACACACAC;ACACACACACACACAC;ACACACACACACACACAC;ACACACACACACACACACAC;ACACACACACACACACACACAC;ACACACACACACACACACACACACAC;ACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACAC;ACACACACACACACACACACACACACACACACAC delins 0.010 1.000 1 2018 2018
dbSNP: rs1799750
rs1799750
MMP1 ; WTAPP1
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2014 2014
dbSNP: rs3764261
rs3764261 		26 0.732 0.280 16 56959412 upstream gene variant C/A snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs61758388
rs61758388
XYLT1 ; LOC107987234
4 0.851 0.360 16 17470454 missense variant C/A;G snv 2.7E-02 0.010 1.000 1 2008 2008