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: rs235326
rs235326
ITGB2
2 0.925 0.200 21 44891898 synonymous variant A/C;G snv 0.68 0.010 1.000 1 2011 2011
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs2228145
rs2228145
IL6R
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.010 < 0.001 1 2013 2013
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 0.500 2 2006 2013
dbSNP: rs121434441
rs121434441
KIF5A
3 0.882 0.240 12 57569015 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1331505548
rs1331505548
KIF5C
2 0.925 0.200 2 148949891 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2006 2006
dbSNP: rs16944
rs16944
IL1B
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2008 2008
dbSNP: rs768560449
rs768560449
IMMT
2 1.000 0.160 2 86166521 missense variant A/G snv 8.1E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121908517
rs121908517
SPAST
3 0.925 0.240 2 32063965 missense variant C/A snv 3.9E-04 6.2E-04 0.020 1.000 2 2004 2007
dbSNP: rs28940580
rs28940580
MEFV
17 0.742 0.560 16 3243447 missense variant C/A;G;T snv 1.0E-04; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121908515
rs121908515
SPAST
3 0.882 0.280 2 32063962 stop gained C/A;T snv 4.1E-06; 4.6E-03 0.030 1.000 3 2004 2008
dbSNP: rs1559510
rs1559510 		1 1.000 0.160 2 185259982 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs9463772
rs9463772
IL17F
3 0.925 0.240 6 52246993 non coding transcript exon variant C/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs143129431
rs143129431
TFG
1 1.000 0.160 3 100748290 missense variant C/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs2228044
rs2228044
IL6ST
5 0.882 0.240 5 55968325 missense variant C/G snv 0.13 0.21 0.010 < 0.001 1 2013 2013
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.030 1.000 3 2010 2019
dbSNP: rs61755320
rs61755320
SPG7
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.020 1.000 2 2006 2013
dbSNP: rs11771443
rs11771443
NOS3
8 0.790 0.360 7 150990599 upstream gene variant C/T snv 0.16 0.010 1.000 1 2017 2017
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs119476046
rs119476046
ATL1
5 0.827 0.240 14 50613343 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1800897
rs1800897
PAX2
2 0.925 0.240 10 100809115 synonymous variant C/T snv 7.4E-02 0.13 0.010 1.000 1 2015 2015