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: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.020 1.000 2 2016 2019
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.020 0.500 2 2014 2019
dbSNP: rs3091316
rs3091316 		2 1.000 0.040 17 34266955 upstream gene variant G/A;C snv 0.800 1.000 2 2012 2017
dbSNP: rs352140
rs352140
TLR9
42 0.630 0.680 3 52222681 synonymous variant C/A;G;T snv 2.0E-05; 0.49 0.020 1.000 2 2009 2019
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.020 0.500 2 2014 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2005 2006
dbSNP: rs4358188
rs4358188
BPI
7 0.827 0.160 20 38318446 missense variant G/A;C snv 0.46 0.020 1.000 2 2011 2016
dbSNP: rs4380874
rs4380874 		2 1.000 0.040 7 107839870 intergenic variant T/A;C;G snv 0.700 1.000 2 2015 2017
dbSNP: rs4409764
rs4409764 		3 0.925 0.040 10 99524480 upstream gene variant T/A;G snv 0.800 1.000 2 2012 2017
dbSNP: rs4656958
rs4656958
ITLN1
3 0.925 0.040 1 160887174 upstream gene variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs4821544
rs4821544
NCF4 ; NCF4-AS1
6 0.925 0.040 22 36862461 intron variant T/A;C snv 0.020 1.000 2 2008 2015
dbSNP: rs56167332
rs56167332 		7 0.807 0.160 5 159400761 intron variant C/A;T snv 0.700 1.000 2 2015 2017
dbSNP: rs5743293
rs5743293
NOD2
7 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.020 1.000 2 2010 2016
dbSNP: rs6586030
rs6586030
TSPAN14
2 1.000 0.040 10 80494291 intron variant A/G;T snv 0.800 1.000 2 2012 2017
dbSNP: rs71559680
rs71559680 		6 0.827 0.120 6 21430497 intergenic variant TAG/CAT mnv 0.700 1.000 2 2015 2017
dbSNP: rs7282490
rs7282490
GATD3A
4 0.882 0.080 21 44195858 intron variant G/A;T snv 0.800 1.000 2 2012 2017
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.020 1.000 2 2002 2002
dbSNP: rs7911264
rs7911264 		1 10 92677094 intergenic variant T/A;C;G snv 0.800 1.000 2 2012 2017
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.020 0.500 2 2014 2019
dbSNP: rs917997
rs917997 		20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.810 1.000 2 2008 2012
dbSNP: rs10051722
rs10051722 		2 1.000 0.040 5 130768383 intron variant A/C;G snv 0.700 1.000 1 2015 2015
dbSNP: rs10114470
rs10114470
TNFSF15
4 0.882 0.080 9 114785492 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs10142466
rs10142466 		1 14 68805067 intergenic variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs104895094
rs104895094
MEFV
5 0.851 0.320 16 3243403 missense variant T/A;C snv 8.0E-06; 5.2E-03 0.010 1.000 1 2013 2013