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: rs76863441
rs76863441
PLA2G7
25 0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03 0.010 1.000 1 2005 2005
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.020 1.000 2 2006 2012
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: rs25648
rs25648
VEGFA
11 0.742 0.320 6 43771240 synonymous variant C/G;T snv 8.5E-06; 0.16 0.010 1.000 1 2006 2006
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs12722477
rs12722477
HLA-G
1 1.000 0.120 6 29828599 missense variant C/A snv 0.14 0.14 0.010 1.000 1 2008 2008
dbSNP: rs2523790
rs2523790 		1 1.000 0.120 6 29835873 downstream gene variant T/G snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs17531088
rs17531088
NAALADL2
1 1.000 0.120 3 175175985 intron variant C/T snv 0.34 0.800 1.000 1 2009 2009
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs3755724
rs3755724
SYN2 ; TIMP4
8 0.790 0.360 3 12159406 intron variant C/T snv 0.31 0.010 1.000 1 2009 2009
dbSNP: rs549908
rs549908
IL18
10 0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29 0.010 1.000 1 2009 2009
dbSNP: rs28493229
rs28493229
COQ8B ; ITPKC
3 0.925 0.200 19 40718299 intron variant G/A;C snv 6.0E-06; 0.12 0.890 0.900 10 2010 2018
dbSNP: rs2076311
rs2076311
COL11A2
1 1.000 0.120 6 33177592 intron variant C/A snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs2227981
rs2227981
PDCD1 ; LOC105373977
12 0.763 0.400 2 241851121 synonymous variant A/C;G snv 1.6E-04; 0.63 0.010 1.000 1 2010 2010
dbSNP: rs2229634
rs2229634
ITPR3
4 0.851 0.240 6 33670403 synonymous variant C/A;T snv 4.0E-06; 0.33 0.010 1.000 1 2010 2010
dbSNP: rs2232367
rs2232367
FOXP3
1 1.000 0.120 X 49256855 splice region variant G/A snv 3.1E-02 3.0E-02 0.010 1.000 1 2010 2010
dbSNP: rs4290270
rs4290270
TPH2
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2010 2010
dbSNP: rs7305115
rs7305115
TPH2
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.010 1.000 1 2010 2010
dbSNP: rs738792
rs738792
MMP11
6 0.827 0.240 22 23779191 missense variant C/T snv 0.84 0.80 0.010 1.000 1 2010 2010
dbSNP: rs1801274
rs1801274
FCGR2A
46 0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48 0.880 1.000 9 2011 2019
dbSNP: rs10082659
rs10082659
LDLRAD3
1 1.000 0.120 11 36122428 intron variant G/T snv 0.42 0.700 1.000 1 2011 2011
dbSNP: rs1150793
rs1150793
MSH5 ; MSH5-SAPCD1
1 1.000 0.120 6 31749919 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1438386
rs1438386
SMAD3
1 1.000 0.120 15 67115561 intron variant G/A snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs16849083
rs16849083
RBP2 ; LOC100507291
1 1.000 0.120 3 139465437 intron variant C/T snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs1873668
rs1873668
MRPS22
1 1.000 0.120 3 139326219 intron variant T/G snv 0.90 0.010 1.000 1 2011 2011