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: rs1025993235
rs1025993235
PRPSAP2
1 1.000 0.040 17 18865880 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs11231825
rs11231825
SLC22A12
5 0.827 0.240 11 64592802 synonymous variant T/C snv 0.57 0.51 0.010 1.000 1 2018 2018
dbSNP: rs1137070
rs1137070
MAOA
9 0.763 0.160 X 43744144 synonymous variant T/C snv 0.62 0.010 1.000 1 2010 2010
dbSNP: rs11602903
rs11602903
SLC22A12
3 0.882 0.120 11 64590769 5 prime UTR variant A/T snv 0.51 0.010 1.000 1 2015 2015
dbSNP: rs1209613132
rs1209613132
COL1A2
1 1.000 0.040 7 94404745 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs121907892
rs121907892
SLC22A12
8 0.807 0.240 11 64593747 stop gained G/A;C snv 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs12218
rs12218
SAA1
11 0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1230053514
rs1230053514
SLC22A12
1 1.000 0.040 11 64598551 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs130154
rs130154
TAFA5
1 1.000 0.040 22 48710770 intron variant C/T snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs1529909
rs1529909
SLC22A12
1 1.000 0.040 11 64598471 intron variant T/A;C snv 6.5E-06; 0.57 0.010 1.000 1 2015 2015
dbSNP: rs1653624
rs1653624
P2RX7 ; LOC105370032
2 0.925 0.120 12 121184717 missense variant T/A snv 1.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs16890979
rs16890979
SLC2A9
7 0.827 0.200 4 9920543 missense variant C/T snv 0.24 0.29 0.010 1.000 1 2018 2018
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs1822825
rs1822825
PPARG
2 0.925 0.080 3 12408464 intron variant G/A snv 0.61 0.010 1.000 1 2013 2013
dbSNP: rs187238
rs187238
IL18
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs189660050
rs189660050
ZPBP2
1 1.000 0.040 17 39870781 missense variant C/T snv 2.8E-05 1.9E-04 0.010 1.000 1 2011 2011
dbSNP: rs2054576
rs2054576
ABCG2
4 0.882 0.160 4 88107623 intron variant A/G snv 7.8E-02 0.010 1.000 1 2017 2017
dbSNP: rs2544390
rs2544390
LRP2
4 0.925 0.080 2 169348336 intron variant C/T snv 0.45 0.010 1.000 1 2013 2013
dbSNP: rs28934583
rs28934583
UMOD
2 0.925 0.240 16 20348652 missense variant A/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2941484
rs2941484
HNF4G
4 0.882 0.160 8 75566533 3 prime UTR variant C/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs33972313
rs33972313
SLC23A1
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs3825017
rs3825017
SLC22A12
1 1.000 0.040 11 64591802 missense variant C/A;T snv 4.0E-06; 3.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs4073
rs4073
CXCL8
64 0.566 0.800 4 73740307 upstream gene variant A/T snv 0.46 0.010 1.000 1 2015 2015