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: rs27647
rs27647
GHRL ; GHRLOS
2 0.925 0.120 3 10290784 5 prime UTR variant C/T snv 0.67 0.010 < 0.001 1 2018 2018
dbSNP: rs26312
rs26312
GHRL ; GHRLOS
2 0.925 0.080 3 10291174 5 prime UTR variant G/A snv 0.16 0.010 < 0.001 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2011
dbSNP: rs3135932
rs3135932
IL10RA
23 0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11 0.010 1.000 1 2005 2005
dbSNP: rs2229113
rs2229113
IL10RA
10 0.763 0.360 11 117998955 missense variant A/G snv 0.74 0.74 0.010 1.000 1 2005 2005
dbSNP: rs2645424
rs2645424
FDFT1
5 0.827 0.120 8 11826954 intron variant A/C;G snv 0.56 0.010 1.000 1 2014 2014
dbSNP: rs5888
rs5888
SCARB1
11 0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs3782287
rs3782287
SCARB1
1 1.000 0.040 12 124804719 intron variant G/A snv 0.41 0.010 1.000 1 2016 2016
dbSNP: rs10846744
rs10846744
SCARB1
11 0.763 0.160 12 124827879 intron variant G/C snv 0.32 0.020 1.000 2 2016 2017
dbSNP: rs179008
rs179008
TLR7
14 0.763 0.360 X 12885540 missense variant A/C;T snv 0.18 0.18 0.010 1.000 1 2018 2018
dbSNP: rs3853839
rs3853839
TLR7
10 0.752 0.480 X 12889539 3 prime UTR variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs3764879
rs3764879
TLR8 ; TLR8-AS1
6 0.807 0.320 X 12906578 intron variant C/G snv 0.30 0.010 1.000 1 2018 2018
dbSNP: rs3764880
rs3764880
TLR8 ; TLR8-AS1
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.010 1.000 1 2018 2018
dbSNP: rs10833
rs10833
IL15
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs13170556
rs13170556
HAVCR2
2 0.925 0.120 5 157095577 intron variant T/C snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs12186731
rs12186731
HAVCR2
2 0.925 0.120 5 157110905 intron variant C/T snv 0.11 0.010 1.000 1 2016 2016
dbSNP: rs12075
rs12075
ACKR1 ; CADM3-AS1
22 0.724 0.240 1 159205564 missense variant G/A snv 0.51 0.66 0.010 1.000 1 2019 2019
dbSNP: rs3747517
rs3747517
IFIH1
13 0.732 0.360 2 162272314 missense variant T/C snv 0.68 0.68 0.010 1.000 1 2019 2019
dbSNP: rs17047200
rs17047200
TLL1
5 0.827 0.200 4 166008836 intron variant A/T snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs2287622
rs2287622
ABCB11
16 0.724 0.240 2 168973818 missense variant A/C;G;T snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs5743312
rs5743312
TLR3
9 0.827 0.160 4 186079102 intron variant C/T snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs3775291
rs3775291
TLR3
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2018 2018
dbSNP: rs58542926
rs58542926
TM6SF2
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.020 1.000 2 2015 2016
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2012 2012