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: rs1556408009
rs1556408009
XIAP
3 0.925 0.200 X 123900534 stop gained C/T snv 0.700 0
dbSNP: rs77874543
rs77874543
TNFRSF13C
3 0.882 0.080 22 41926712 missense variant G/C;T snv 6.1E-02 5.5E-02 0.010 1.000 1 2015 2015
dbSNP: rs6586282
rs6586282
CBS
5 0.882 0.080 21 43058387 intron variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs2232618
rs2232618
LBP
5 0.851 0.160 20 38373117 missense variant T/C snv 9.2E-02 0.12 0.020 1.000 2 2012 2018
dbSNP: rs4358188
rs4358188
BPI
7 0.827 0.160 20 38318446 missense variant G/A;C snv 0.46 0.020 1.000 2 2001 2014
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2018 2018
dbSNP: rs2069948
rs2069948
PROCR ; MMP24-AS1-EDEM2
5 0.851 0.160 20 35174686 non coding transcript exon variant C/T snv 0.55 0.62 0.010 1.000 1 2017 2017
dbSNP: rs2664581
rs2664581
PI3
3 0.882 0.120 20 45175881 missense variant A/C snv 0.16 0.16 0.010 1.000 1 2014 2014
dbSNP: rs374520012
rs374520012
LBP
3 0.882 0.120 20 38373994 missense variant T/C;G snv 8.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs867186
rs867186
PROCR ; MMP24-AS1-EDEM2
15 0.752 0.120 20 35176751 missense variant A/G snv 0.10 9.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs11666254
rs11666254
FPR1 ; FPR2
2 0.925 0.080 19 51759909 intron variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs773520745
rs773520745
IL12RB1
3 0.882 0.120 19 18075817 missense variant C/G;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121918094
rs121918094
TTR
8 0.827 0.280 18 31592921 missense variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs12605436
rs12605436
MIR187
2 0.925 0.080 18 35906684 upstream gene variant C/T snv 9.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2017 2017
dbSNP: rs13137
rs13137
VMP1 ; MIR21
5 0.827 0.160 17 59841670 3 prime UTR variant A/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2297518
rs2297518
NOS2
30 0.658 0.480 17 27769571 missense variant G/A snv 0.18 0.17 0.010 1.000 1 2013 2013
dbSNP: rs2857656
rs2857656
CCL2
5 0.851 0.120 17 34254988 upstream gene variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs34557412
rs34557412
TNFRSF13B
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.010 1.000 1 2015 2015
dbSNP: rs1800777
rs1800777
CETP
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.020 1.000 2 2018 2019
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 1.000 2 2012 2014
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2007 2012
dbSNP: rs885479
rs885479
MC1R
16 0.732 0.280 16 89919746 missense variant G/A snv 0.15 8.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs653765
rs653765
ADAM10
10 0.763 0.240 15 58749813 upstream gene variant T/C;G snv 0.45 0.020 1.000 2 2015 2019
dbSNP: rs1475145065
rs1475145065
CTSG
3 0.882 0.080 14 24574706 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2006 2006