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: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.020 1.000 2 2019 2020
dbSNP: rs641738
rs641738
MBOAT7 ; TMC4 ; LOC112268246
22 0.689 0.320 19 54173068 missense variant T/A;C;G snv 0.020 0.500 2 2018 2019
dbSNP: rs72613567
rs72613567
HSD17B13
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 0.500 2 2019 2020
dbSNP: rs10433937
rs10433937
HSD17B13
4 0.882 0.080 4 87308948 intron variant T/A;C;G snv 0.010 < 0.001 1 2019 2019
dbSNP: rs104894630
rs104894630
SCO1
4 0.882 0.120 17 10692805 missense variant G/A snv 0.010 < 0.001 1 2013 2013
dbSNP: rs1051861187
rs1051861187
ABCB4
6 0.827 0.080 7 87409385 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs10833
rs10833
IL15
10 0.776 0.160 4 141733394 3 prime UTR variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs11465817
rs11465817
IL23R
4 0.882 0.120 1 67255414 intron variant C/A;T snv 0.010 1.000 1 2013 2013
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: 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: 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: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
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: rs2070666
rs2070666
APOC3
4 0.882 0.120 11 116830958 intron variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2016 2016
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 2020 2020
dbSNP: rs236918
rs236918
PCSK7
10 0.776 0.160 11 117220893 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3811381
rs3811381
CR1
11 0.763 0.240 1 207616743 missense variant C/A;G snv 8.0E-06; 0.24 0.010 1.000 1 2019 2019
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 1.000 1 2013 2013