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: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.040 0.250 4 2005 2009
dbSNP: rs757537938
rs757537938
C2 ; CYP21A2 ; C2-AS1
3 0.882 0.200 6 31943672 missense variant A/C snv 4.1E-06 0.030 1.000 3 2006 2009
dbSNP: rs10411506
rs10411506
C3
2 0.925 0.160 19 6710937 non coding transcript exon variant G/A snv 0.17 0.14 0.010 1.000 1 2009 2009
dbSNP: rs1155974
rs1155974
TNMD
2 0.925 0.120 X 100598284 intron variant C/T snv 0.34 0.010 1.000 1 2009 2009
dbSNP: rs1326505941
rs1326505941
HTRA1 ; LOC105378526
1 1.000 0.040 10 122489474 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs1460548929
rs1460548929
PRKCSH
2 0.925 0.040 19 11442432 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs151207349
rs151207349
PRKCSH
2 0.925 0.040 19 11441343 missense variant C/T snv 7.0E-04 5.7E-04 0.010 1.000 1 2009 2009
dbSNP: rs163913
rs163913
C3
2 0.925 0.160 19 6722624 intron variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs2073163
rs2073163
TNMD
2 0.925 0.120 X 100594054 intron variant T/C snv 0.41 0.39 0.010 1.000 1 2009 2009
dbSNP: rs2230205
rs2230205
C3
3 0.882 0.200 19 6709693 synonymous variant C/T snv 0.17 0.14 0.010 1.000 1 2009 2009
dbSNP: rs3173798
rs3173798
CD36
2 0.925 0.040 7 80656534 splice region variant T/C snv 0.14 0.13 0.010 1.000 1 2009 2009
dbSNP: rs3211883
rs3211883
CD36
1 1.000 0.040 7 80659727 intron variant A/T snv 0.75 0.010 1.000 1 2009 2009
dbSNP: rs339392
rs339392
C3
2 0.925 0.160 19 6722011 intron variant G/T snv 0.79 0.010 1.000 1 2009 2009
dbSNP: rs405509
rs405509
APOE
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2009 2009
dbSNP: rs4151659
rs4151659
CFB ; CYP21A2
3 0.925 0.160 6 31950687 missense variant A/G snv 1.1E-02 1.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 < 0.001 1 2009 2009
dbSNP: rs61755783
rs61755783
PRPH2
11 0.763 0.080 6 42721911 missense variant G/A snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs61755793
rs61755793
PRPH2
6 0.807 0.080 6 42721820 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs7890586
rs7890586 		1 1.000 0.040 X 100582827 upstream gene variant G/A snv 0.23 0.010 1.000 1 2009 2009
dbSNP: rs1467528955
rs1467528955
C2 ; CYP21A2
1 1.000 0.040 6 31933767 missense variant G/A snv 1.2E-05 7.0E-06 0.040 1.000 4 2006 2010
dbSNP: rs2014307
rs2014307
LOC105378525
2 0.925 0.160 10 122458116 intron variant T/G snv 0.63 0.710 1.000 3 2008 2010
dbSNP: rs1005510
rs1005510
SERPING1
1 1.000 0.040 11 57599749 intron variant C/T snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs1048118
rs1048118
CFP
1 1.000 0.040 X 47624401 synonymous variant G/A snv 0.22 0.23 0.010 < 0.001 1 2010 2010
dbSNP: rs10801575
rs10801575 		1 1.000 0.040 1 196883651 intron variant T/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs1141718
rs1141718
SOD2
15 0.724 0.280 6 159688224 missense variant A/G snv 0.010 1.000 1 2010 2010