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: rs4142986
rs4142986
COL15A1
2 0.925 0.040 9 99052344 intron variant C/A;G;T snv 1.1E-04; 0.75; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs755725121
rs755725121
PIK3CD
4 0.882 0.080 1 9716029 missense variant G/A snv 2.1E-05 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.050 1.000 5 2001 2019
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 1.000 6 2001 2019
dbSNP: rs499952
rs499952
MRE11
2 0.925 0.040 11 94449826 intron variant G/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs13447720
rs13447720
MRE11
2 0.925 0.040 11 94432160 intron variant T/C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs2155209
rs2155209
MRE11
10 0.776 0.240 11 94417624 3 prime UTR variant T/C snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs1314386070
rs1314386070
DECR1
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs749582333
rs749582333
NOX4
2 0.925 0.040 11 89340157 frameshift variant G/- delins 0.020 1.000 2 2016 2017
dbSNP: rs8042271
rs8042271 		3 0.882 0.040 15 89030987 intergenic variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs4673
rs4673
CYBA
32 0.653 0.600 16 88646828 missense variant A/G;T snv 0.70 0.010 1.000 1 2003 2003
dbSNP: rs4754
rs4754
SPP1
12 0.752 0.360 4 87981540 missense variant T/A;C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs1010
rs1010
VAMP8
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs116843064
rs116843064
ANGPTL4
16 0.776 0.160 19 8364439 missense variant G/A snv 1.3E-02 1.5E-02 0.030 1.000 3 2008 2009
dbSNP: rs4076317
rs4076317
ANGPTL4
5 0.882 0.080 19 8364115 intron variant C/G snv 0.25 0.010 1.000 1 2018 2018
dbSNP: rs8070488
rs8070488
HGS
3 0.882 0.080 17 81696901 synonymous variant T/C snv 0.21 0.26 0.010 1.000 1 2014 2014
dbSNP: rs112735431
rs112735431
RNF213 ; RNF213-AS1
24 0.683 0.320 17 80385145 missense variant G/A;C snv 2.6E-04; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1866389
rs1866389
THBS4
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.010 1.000 1 2003 2003
dbSNP: rs6495446
rs6495446
MTHFS ; ST20-MTHFS
6 0.851 0.200 15 79862640 intron variant C/T snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs2453021
rs2453021
TNFRSF9
6 0.807 0.080 1 7929506 intron variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs4380028
rs4380028
MORF4L1
7 0.807 0.120 15 78818751 intron variant C/T snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs3825807
rs3825807
ADAMTS7
10 0.807 0.120 15 78796769 missense variant A/G snv 0.34 0.33 0.030 1.000 3 2013 2019
dbSNP: rs5351
rs5351
EDNRB ; EDNRB-AS1
7 0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57 0.010 1.000 1 2007 2007
dbSNP: rs1862513
rs1862513
RETN
11 0.763 0.360 19 7668907 upstream gene variant C/G;T snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1403934301
rs1403934301
SHBG
3 0.882 0.120 17 7631317 missense variant G/A snv 0.010 1.000 1 2017 2017