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: rs775982338
rs775982338
SERPINA1
3 0.882 0.160 14 94383009 inframe deletion AGA/- delins 1.7E-04 0.700 1.000 1 1989 1989
dbSNP: rs11558261
rs11558261
SERPINA1
3 0.882 0.160 14 94382823 missense variant C/T snv 9.1E-05 3.5E-05 0.700 1.000 1 1990 1990
dbSNP: rs28931568
rs28931568
SERPINA1
3 0.882 0.160 14 94382966 missense variant C/T snv 0.700 1.000 1 1990 1990
dbSNP: rs28931572
rs28931572
SERPINA1
3 0.882 0.160 14 94382891 missense variant A/T snv 0.700 1.000 1 1990 1990
dbSNP: rs55819880
rs55819880
SERPINA1
3 0.882 0.160 14 94383008 missense variant G/A snv 1.4E-04 0.700 1.000 1 1993 1993
dbSNP: rs1800463
rs1800463
SERPINA3
2 1.000 0.040 14 94614674 missense variant T/A;C snv 0.030 1.000 3 1993 2000
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2002 2002
dbSNP: rs41511151
rs41511151
ELN
1 1.000 0.040 7 74068657 missense variant G/A snv 3.0E-03 3.1E-03 0.010 1.000 1 2005 2005
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2005 2005
dbSNP: rs2234922
rs2234922
EPHX1
42 0.630 0.440 1 225838705 missense variant A/G;T snv 0.19; 2.8E-05 0.020 1.000 2 2004 2007
dbSNP: rs1202989817
rs1202989817
SOD1 ; LOC102724449
18 0.716 0.360 21 31659813 missense variant T/C;G snv 8.0E-06 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1800076
rs1800076
CFTR
10 0.763 0.200 7 117509093 missense variant G/A;T snv 1.5E-02; 8.0E-06 0.020 1.000 2 2004 2008
dbSNP: rs1059823
rs1059823
SLC11A1
1 1.000 0.040 2 218395121 3 prime UTR variant A/G snv 0.52 0.010 1.000 1 2008 2008
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
16 0.716 0.320 7 117559479 missense variant G/A snv 0.47 0.57 0.010 1.000 1 2008 2008
dbSNP: rs28381984
rs28381984
COL4A3 ; MFF-DT
1 1.000 0.040 2 227270915 missense variant C/A;T snv 0.47 0.010 1.000 1 2008 2008
dbSNP: rs326118
rs326118
MTRR ; FASTKD3
2 0.925 0.080 5 7868430 intron variant T/G snv 0.21 0.010 1.000 1 2008 2008
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: rs584367
rs584367
PLA2G2D
1 1.000 0.040 1 20115561 missense variant T/C snv 0.66 0.70 0.020 1.000 2 2005 2009
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2009 2009
dbSNP: rs1080879
rs1080879 		1 1.000 0.040 5 15054693 intergenic variant T/C;G snv 0.700 1.000 1 2009 2009
dbSNP: rs11668247
rs11668247
LOC105372412
1 1.000 0.040 19 43690210 intron variant C/T snv 0.34 0.010 < 0.001 1 2009 2009
dbSNP: rs121917864
rs121917864
TLR2
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 < 0.001 1 2009 2009
dbSNP: rs1431221552
rs1431221552
PLA2G6
1 1.000 0.040 22 38132989 missense variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs156697
rs156697
GSTO2
25 0.672 0.560 10 104279427 missense variant A/G;T snv 0.35 0.010 1.000 1 2009 2009
dbSNP: rs2283628
rs2283628
PLAUR
1 1.000 0.040 19 43658909 intron variant T/C snv 0.24 0.010 < 0.001 1 2009 2009