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: rs121434622
rs121434622
FMR1
2 1.000 0.080 X 147936534 missense variant T/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2019 2019
dbSNP: rs12583006
rs12583006
TNFSF13B
8 0.807 0.320 13 108285104 intron variant T/A snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs1281032650
rs1281032650
LNPEP
1 5 96979168 missense variant A/G snv 0.010 1.000 1 2020 2020
dbSNP: rs1290547844
rs1290547844
BRD4
1 19 15273041 missense variant C/T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs12980275
rs12980275 		23 0.701 0.360 19 39241143 upstream gene variant A/G snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs1316569885
rs1316569885
SORBS1
1 10 95399139 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1325863623
rs1325863623
SERPINB6
1 6 2953175 missense variant C/T snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs1371149614
rs1371149614
SHBG
2 1.000 0.040 17 7630488 missense variant G/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
7 0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03 0.010 1.000 1 1999 1999
dbSNP: rs1420111973
rs1420111973
TLR4
2 1.000 0.080 9 117712527 synonymous variant T/C snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs17580
rs17580
SERPINA1
14 0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs1800730
rs1800730
HFE ; LOC108783645
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs1870377
rs1870377
KDR
25 0.695 0.520 4 55106807 missense variant T/A snv 0.22 0.20 0.010 1.000 1 2014 2014
dbSNP: rs187084
rs187084
TLR9
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.010 < 0.001 1 2019 2019
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2020 2020
dbSNP: rs1879026
rs1879026
TLR3
3 1.000 0.080 4 186079167 intron variant G/C;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1921
rs1921
ISG15
1 1 1014228 missense variant G/A;C snv 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1946518
rs1946518
IL18
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2020 2020
dbSNP: rs200192581
rs200192581
SORBS1
1 10 95381729 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs2070666
rs2070666
APOC3
4 0.882 0.120 11 116830958 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2071025
rs2071025
COL11A2
1 6 33175979 intron variant A/G snv 0.28 0.29 0.010 1.000 1 2017 2017
dbSNP: rs2227982
rs2227982
PDCD1 ; LOC105373977
24 0.677 0.480 2 241851281 missense variant G/A snv 9.2E-02 4.3E-02 0.010 < 0.001 1 2019 2019