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: rs750332
rs750332
BAG6
1 1.000 0.120 6 31639273 intron variant C/T snv 0.84 0.81 0.010 1.000 1 2011 2011
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: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 < 0.001 1 2017 2017
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.020 0.500 2 2018 2019
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: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2019 2019
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: rs4523
rs4523
TBXA2R
8 0.776 0.280 19 3595796 missense variant A/G snv 0.56 0.66 0.010 1.000 1 2018 2018
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: 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: rs10866845
rs10866845
EBF2 ; LOC102723395
1 1.000 0.120 8 25850751 synonymous variant T/C snv 0.42 0.49 0.010 1.000 1 2018 2018
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.010 < 0.001 1 2019 2019
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: 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: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2019 2019
dbSNP: rs3818298
rs3818298
TCP1 ; SNORA29
1 1.000 0.120 6 159785684 non coding transcript exon variant T/C snv 0.21 0.20 0.010 1.000 1 2015 2015
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2018 2018
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: rs17280682
rs17280682
NLRP14
1 1.000 0.120 11 7070338 missense variant C/T snv 0.15 0.15 0.010 1.000 1 2017 2017
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: 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: 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: rs2293256
rs2293256
ATP5MF ; PTCD1 ; ATP5MF-PTCD1
1 1.000 0.120 7 99460078 splice region variant G/A snv 5.8E-02 9.2E-02 0.700 1.000 1 2013 2013
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