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: 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: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.030 0.667 3 2006 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: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.030 1.000 3 2011 2019
dbSNP: rs121908513
rs121908513
SPAST
6 0.807 0.280 2 32116145 missense variant T/A snv 0.020 1.000 2 2002 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2015 2017
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: 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: 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: 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: rs200154785
rs200154785
APP
2 0.925 0.240 21 25997362 missense variant T/A snv 0.010 1.000 1 2002 2002
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: 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: 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: rs483352923
rs483352923
REEP2
3 0.882 0.160 5 138441386 missense variant T/A snv 0.010 1.000 1 2014 2014
dbSNP: rs483352925
rs483352925
REEP2
2 0.925 0.160 5 138444447 missense variant T/A snv 0.010 1.000 1 2014 2014
dbSNP: rs757334523
rs757334523
DNM2 ; MIR6793
1 1.000 0.160 19 10829132 missense variant C/T snv 0.010 1.000 1 2015 2015