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: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2019 2019
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.040 0.750 4 2015 2017
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.030 1.000 3 2007 2012
dbSNP: rs5743704
rs5743704
TLR2
9 0.763 0.240 4 153704799 missense variant C/A snv 2.8E-02 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs17047200
rs17047200
TLL1
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs1800469
rs1800469
TGFB1 ; B9D2
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs4969168
rs4969168
SOCS3
7 0.790 0.480 17 78357712 3 prime UTR variant A/G snv 0.71 0.010 1.000 1 2013 2013
dbSNP: rs11854484
rs11854484
SLC28A2 ; LOC101928414
2 0.925 0.120 15 45253280 missense variant C/T snv 0.47 0.45 0.010 1.000 1 2013 2013
dbSNP: rs12989760
rs12989760
SH3YL1
2 0.925 0.120 2 250470 intron variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs16851720
rs16851720
RNF7
5 0.827 0.120 3 141744456 intron variant A/C snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs758564400
rs758564400
REN
5 0.925 0.120 1 204156683 missense variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs10814325
rs10814325
RECK
7 0.827 0.200 9 36036597 upstream gene variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs738409
rs738409
PNPLA3
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.100 0.938 16 2011 2019
dbSNP: rs2779180
rs2779180
PLIN3
1 1.000 0.080 19 4841139 intron variant A/G snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs1470452230
rs1470452230
PAEP
2 0.925 0.120 9 135561895 missense variant A/C snv 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2019 2019
dbSNP: rs1293762
rs1293762
OAS2
1 1.000 0.080 12 112993031 intron variant T/G snv 0.67 0.010 1.000 1 2014 2014
dbSNP: rs2071286
rs2071286
NOTCH4
12 0.752 0.280 6 32212119 intron variant C/T snv 0.17 0.700 1.000 1 2014 2014
dbSNP: rs12785878
rs12785878
NADSYN1
25 0.677 0.520 11 71456403 intron variant G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs7944926
rs7944926
NADSYN1
7 0.807 0.200 11 71454579 intron variant A/G snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2005 2011
dbSNP: rs2596542
rs2596542
MICA ; MICA-AS1
18 0.724 0.200 6 31398818 upstream gene variant C/T snv 0.41 0.020 1.000 2 2019 2019
dbSNP: rs4374383
rs4374383
MERTK
10 0.776 0.200 2 112013193 intron variant A/G snv 0.58 0.010 1.000 1 2016 2016
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 1.000 2 2016 2018