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: 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: 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: 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: 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: 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: rs886041761
rs886041761
KCNA2
6 0.925 0.200 1 110603902 missense variant C/T snv 0.010 1.000 1 2016 2016
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: rs121908513
rs121908513
SPAST
6 0.807 0.280 2 32116145 missense variant T/A snv 0.020 1.000 2 2002 2018
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: 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: rs1331505548
rs1331505548
KIF5C
2 0.925 0.200 2 148949891 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1559510
rs1559510 		1 1.000 0.160 2 185259982 intergenic variant C/A;T snv 0.010 1.000 1 2009 2009
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: rs762630964
rs762630964
SPAST
1 1.000 0.160 2 32145007 missense variant G/A snv 4.0E-06 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: 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: rs376971794
rs376971794
TFG
2 0.925 0.160 3 100728760 missense variant G/A snv 6.4E-05 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs989357227
rs989357227
TFG
1 1.000 0.160 3 100713749 missense variant C/T snv 1.6E-05 0.010 1.000 1 2016 2016
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: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2010 2010
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: 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: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2006 2006