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: 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 1997 2018
dbSNP: rs121913615
rs121913615
MPL
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2008 2008
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1884444
rs1884444
IL23R ; C1orf141
34 0.637 0.600 1 67168129 missense variant G/T snv 0.52 0.51 0.010 < 0.001 1 2017 2017
dbSNP: rs3024505
rs3024505 		10 0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2009 2009
dbSNP: rs7530511
rs7530511
IL23R ; C1orf141
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.010 < 0.001 1 2017 2017
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2008 2008
dbSNP: rs747506979
rs747506979
GBA
4 0.882 0.160 1 155235003 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs878853314
rs878853314
GBA
5 0.882 0.240 1 155239655 missense variant C/G snv 0.700 0
dbSNP: rs878853315
rs878853315
GBA
5 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
dbSNP: rs1143634
rs1143634
IL1B
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2016 2016
dbSNP: rs11568350
rs11568350
SLC40A1
9 0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02 0.010 1.000 1 2004 2004
dbSNP: rs1559810905
rs1559810905
IFIH1
9 0.827 0.240 2 162273810 missense variant T/A snv 0.700 1.000 1 2020 2020
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs559063155
rs559063155
SF3B1
14 0.732 0.280 2 197402110 stop gained T/A;C;G snv 9.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1375515
rs1375515
CACNA2D3
1 1.000 0.040 3 54442613 intron variant C/T snv 0.58 0.010 1.000 1 2015 2015
dbSNP: rs1868505
rs1868505
CACNA2D3
1 1.000 0.040 3 54387228 intron variant T/C snv 0.86 0.010 1.000 1 2015 2015
dbSNP: rs28940298
rs28940298
VHL
9 0.776 0.280 3 10149921 missense variant C/T snv 2.1E-04 1.0E-04 0.010 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647
TF
15 0.807 0.120 3 133765185 intron variant G/A snv 0.31 0.010 < 0.001 1 2012 2012
dbSNP: rs6780995
rs6780995
IL17RD
2 0.925 0.080 3 57104391 missense variant G/A snv 0.62 0.64 0.010 1.000 1 2013 2013
dbSNP: rs708567
rs708567
IL17RC
6 0.807 0.200 3 9918386 missense variant C/T snv 0.46 0.51 0.010 1.000 1 2013 2013
dbSNP: rs1196547982
rs1196547982
TLR2
2 0.925 0.120 4 153703650 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010