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: rs2228048
rs2228048
TGFBR2
2 0.925 0.120 3 30672350 synonymous variant C/T snv 5.5E-02 3.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs2951916
rs2951916
FILIP1 ; UBE2V1P15
1 1.000 0.040 6 75465141 non coding transcript exon variant A/G snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs3097940
rs3097940
LINC01091
1 1.000 0.040 4 123863618 non coding transcript exon variant C/T snv 0.48 0.700 1.000 1 2011 2011
dbSNP: rs3171425
rs3171425
IL10RB
1 1.000 0.040 21 33296442 3 prime UTR variant A/G snv 0.60 0.53 0.010 1.000 1 2011 2011
dbSNP: rs3856834
rs3856834
LINC00690
1 1.000 0.040 3 16540153 intron variant T/C snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs7281762
rs7281762
IL10RB
1 1.000 0.040 21 33297267 intron variant G/A snv 0.15 0.010 1.000 1 2011 2011
dbSNP: rs744751
rs744751
TGFBR2
1 1.000 0.040 3 30694445 upstream gene variant G/A snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs1040079
rs1040079
PACRG
3 0.882 0.040 6 162792995 intron variant A/G snv 0.31 0.020 1.000 2 2006 2012
dbSNP: rs606231248
rs606231248
MRC1
3 0.882 0.080 10 17849701 missense variant G/A snv 0.32 0.020 1.000 2 2010 2012
dbSNP: rs7194886
rs7194886 		4 0.851 0.080 16 50691282 upstream gene variant C/T snv 0.38 0.710 1.000 2 2009 2012
dbSNP: rs4833095
rs4833095
TLR1
28 0.662 0.480 4 38798089 missense variant T/C snv 0.38 0.44 0.020 1.000 2 2009 2013
dbSNP: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.020 1.000 2 2010 2013
dbSNP: rs9356058
rs9356058
PACRG
1 1.000 0.040 6 162730367 intron variant C/A;T snv 0.020 1.000 2 2012 2013
dbSNP: rs1065489
rs1065489
CFH
19 0.695 0.440 1 196740644 missense variant G/T snv 0.20 0.15 0.010 1.000 1 2013 2013
dbSNP: rs11003124
rs11003124
MBL2
2 1.000 0.040 10 52772131 upstream gene variant T/G snv 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1333955
rs1333955
PACRG
4 0.851 0.080 6 162792422 intron variant T/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2023004
rs2023004
PRKN
1 1.000 0.040 6 162495517 intron variant T/C snv 0.31 0.010 1.000 1 2013 2013
dbSNP: rs2844573
rs2844573 		3 0.882 0.160 6 31367677 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3753395
rs3753395
CFH
5 0.882 0.120 1 196717522 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3811140
rs3811140
FCN2
1 1.000 0.040 9 134880265 upstream gene variant A/G snv 0.15 0.010 1.000 1 2013 2013
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs7096206
rs7096206
MBL2
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.010 1.000 1 2013 2013
dbSNP: rs7851696
rs7851696
FCN2
5 0.827 0.320 9 134887245 missense variant G/C;T snv 0.12 0.14 0.010 1.000 1 2013 2013
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.020 0.500 2 2012 2014
dbSNP: rs16948876
rs16948876 		1 1.000 0.040 16 50820507 intergenic variant G/A snv 6.2E-02 0.800 1.000 2 2011 2015