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: rs104894490
rs104894490
NIPA1
5 0.827 0.240 15 22812252 missense variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs10759932
rs10759932
TLR4
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs11466023
rs11466023
MEFV
6 0.827 0.320 16 3249586 missense variant G/A;T snv 1.5E-02; 4.0E-05 0.010 < 0.001 1 2010 2010
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: 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: rs121908510
rs121908510
SPAST
2 0.925 0.240 2 32136898 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs121918262
rs121918262
REEP1
3 0.882 0.240 2 86282216 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 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: 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: rs145555213
rs145555213
FARS2
2 0.925 0.160 6 5368994 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1559510
rs1559510 		1 1.000 0.160 2 185259982 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
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: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2017 2017
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
dbSNP: rs1927907
rs1927907
TLR4
7 0.790 0.320 9 117710486 intron variant C/T snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs1927914
rs1927914
TLR4
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs200154785
rs200154785
APP
2 0.925 0.240 21 25997362 missense variant T/A snv 0.010 1.000 1 2002 2002
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: rs2227306
rs2227306
CXCL8
21 0.677 0.680 4 73741338 intron variant C/T snv 0.31 0.010 1.000 1 2016 2016
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