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: 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 2013 2013
dbSNP: rs6610650
rs6610650 		2 1.000 0.040 X 37777261 intron variant G/A snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs702553
rs702553
PDE4D
6 0.882 0.160 5 60440946 intron variant A/T snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2013 2013
dbSNP: rs7947841
rs7947841
CAT
1 11 34470133 intron variant G/A snv 1.0E-01 0.010 1.000 1 2013 2013
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.100 1.000 15 1996 2014
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.080 1.000 8 1999 2014
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.030 1.000 3 2001 2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 1.000 2 2004 2014
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2009 2014
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2011 2014
dbSNP: rs1043307
rs1043307
PSMD9
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
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 2014 2014
dbSNP: rs121912863
rs121912863
COL4A4
2 1.000 2 227008112 missense variant G/A snv 1.6E-04 1.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs1427118369
rs1427118369
COL4A3 ; MFF-DT
1 2 227283830 missense variant G/A snv 4.0E-06 1.4E-05 0.010 1.000 1 2014 2014
dbSNP: rs2607420
rs2607420
ITPKC
3 0.925 0.120 19 40738982 intron variant G/A snv 0.76 0.010 1.000 1 2014 2014
dbSNP: rs267606743
rs267606743
COL4A1
5 1.000 0.160 13 110192222 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs3825172
rs3825172
PSMD9
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs758564400
rs758564400
REN
5 0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs869025495
rs869025495
NPHS2
6 0.851 0.080 1 179564715 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.909 11 2007 2015
dbSNP: rs2268388
rs2268388
ACACB
6 0.851 0.200 12 109205840 intron variant G/A snv 0.14 0.040 1.000 4 2013 2015
dbSNP: rs1025423410
rs1025423410
TLR1
1 4 38798831 start lost T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015