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: rs1177506410
rs1177506410
AGT
12 0.776 0.240 1 230706148 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1275805226
rs1275805226
AGT
12 0.776 0.240 1 230706148 frameshift variant G/- del 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2002 2002
dbSNP: rs755460305
rs755460305
KNG1
4 0.882 0.080 3 186732650 missense variant C/A snv 0.010 1.000 1 2002 2002
dbSNP: rs2243204
rs2243204
TH2LCRR
1 1.000 0.040 5 132663802 intron variant C/T snv 0.24 0.010 1.000 1 2006 2006
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs638376
rs638376 		1 1.000 0.040 X 114998678 intergenic variant T/C snv 0.54 0.010 1.000 1 2006 2006
dbSNP: rs1130866
rs1130866
SFTPB
9 0.827 0.160 2 85666618 missense variant G/A;C snv 0.50 0.010 1.000 1 2008 2008
dbSNP: rs1322403577
rs1322403577
SFTPA1
4 0.882 0.120 10 79613818 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 1.000 1 2008 2008
dbSNP: rs17612648
rs17612648
PTPRC
2 1.000 0.040 1 198696788 synonymous variant C/G;T snv 8.8E-03; 8.0E-05 0.010 1.000 1 2008 2008
dbSNP: rs2834167
rs2834167
IL10RB
11 0.752 0.360 21 33268483 missense variant A/G snv 0.33 0.25 0.010 1.000 1 2008 2008
dbSNP: rs6314
rs6314
HTR2A
23 0.677 0.360 13 46834899 missense variant G/A snv 7.9E-02 9.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs999788
rs999788
IFNAR2 ; IL10RB ; IL10RB-DT
2 0.925 0.120 21 33265726 non coding transcript exon variant C/T snv 0.20 0.010 1.000 1 2008 2008
dbSNP: rs11209026
rs11209026
IL23R
46 0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02 0.010 1.000 1 2009 2009
dbSNP: rs11465804
rs11465804
IL23R
10 0.752 0.320 1 67236843 intron variant T/G snv 4.4E-02 5.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs11889341
rs11889341
STAT4
12 0.732 0.480 2 191079016 intron variant C/T snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs150840924
rs150840924
LMNA
7 0.807 0.240 1 156136359 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs2280714
rs2280714
TNPO3
10 0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64 0.010 1.000 1 2009 2009
dbSNP: rs3117230
rs3117230 		3 0.882 0.200 6 33107858 upstream gene variant A/G snv 0.28 0.710 1.000 1 2009 2009
dbSNP: rs3128930
rs3128930 		3 0.925 0.120 6 33107889 upstream gene variant C/T snv 0.31 0.710 1.000 1 2009 2009
dbSNP: rs3128965
rs3128965
HLA-DPB1
3 0.882 0.280 6 33088122 3 prime UTR variant G/A snv 0.14 0.710 1.000 1 2009 2009
dbSNP: rs4362
rs4362
ACE
9 0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51 0.010 1.000 1 2009 2009