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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.030 1.000 3 2005 2013
dbSNP: rs3948464
rs3948464
SP110
1 1.000 0.040 2 230185999 missense variant A/C;G snv 8.0E-06; 0.89 0.010 1.000 1 2012 2012
dbSNP: rs4149033
rs4149033
SLCO1B1
1 1.000 0.040 12 21164876 intron variant A/G snv 0.80 0.78 0.010 1.000 1 2016 2016
dbSNP: rs2229238
rs2229238
IL6R
5 0.851 0.080 1 154465420 3 prime UTR variant T/A;C snv 0.80 0.010 1.000 1 2014 2014
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.020 1.000 2 2013 2014
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 0.010 1.000 1 2015 2015
dbSNP: rs1650232
rs1650232
SFTPA2
2 1.000 0.040 10 79559511 splice region variant C/A;T snv 3.6E-03; 0.71 0.010 1.000 1 2013 2013
dbSNP: rs3811047
rs3811047
IL37
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.020 0.500 2 2016 2017
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs10774671
rs10774671
OAS1
14 0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67 0.010 1.000 1 2018 2018
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 2019 2019
dbSNP: rs7813
rs7813
GEMIN4
22 0.689 0.360 17 744946 missense variant G/A;C snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs2227255
rs2227255
CTDSP1 ; MIR26B
1 1.000 0.040 2 218403058 synonymous variant C/T snv 0.57 0.46 0.010 < 0.001 1 2002 2002
dbSNP: rs1131454
rs1131454
OAS1
3 0.882 0.040 12 112911065 missense variant G/A;C snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs7111432
rs7111432
ANO9
1 1.000 0.040 11 429659 splice region variant C/G;T snv 4.0E-06; 0.56 0.010 1.000 1 2012 2012
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2017 2017
dbSNP: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.040 1.000 4 2013 2018
dbSNP: rs13422
rs13422
PMP22
1 1.000 0.040 17 15230858 3 prime UTR variant T/G snv 0.53 0.57 0.010 1.000 1 2016 2016
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.020 1.000 2 2016 2016
dbSNP: rs311686
rs311686
DDX43 ; CGAS
1 1.000 0.040 6 73416152 missense variant A/G snv 0.52 0.48 0.010 1.000 1 2020 2020
dbSNP: rs352139
rs352139
TLR9
18 0.732 0.320 3 52224356 intron variant T/C snv 0.51 0.54 0.040 1.000 4 2012 2015
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs2071277
rs2071277
NOTCH4
3 0.882 0.200 6 32203906 intron variant T/C snv 0.48 0.46 0.010 1.000 1 2020 2020
dbSNP: rs4586
rs4586
CCL2
8 0.790 0.280 17 34256250 synonymous variant T/C snv 0.44 0.48 0.010 1.000 1 2011 2011