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: rs10499194
rs10499194 		10 0.752 0.400 6 137681500 intron variant C/T snv 0.24 0.010 < 0.001 1 2010 2010
dbSNP: rs17197936
rs17197936 		3 0.925 0.040 13 37601702 upstream gene variant T/C snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs1477353313
rs1477353313
ACR
2 0.925 0.120 22 50744085 missense variant T/G snv 0.010 1.000 1 2004 2004
dbSNP: rs2070600
rs2070600
AGER
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.010 1.000 1 2002 2002
dbSNP: rs7033979
rs7033979
ASPN ; CENPP
2 0.925 0.040 9 92461698 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs13277113
rs13277113
BLK
18 0.695 0.520 8 11491677 intron variant G/A snv 0.25 0.010 1.000 1 2011 2011
dbSNP: rs6074028
rs6074028
CD40
1 1.000 0.040 20 46126219 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs73115010
rs73115010
CD40
1 1.000 0.040 20 46124597 intron variant T/C snv 0.18 0.010 1.000 1 2013 2013
dbSNP: rs2501432
rs2501432
CNR2
16 0.716 0.480 1 23875430 missense variant T/C;G snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs35761398
rs35761398
CNR2
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs879761216
rs879761216
CNR2
14 0.732 0.480 1 23875429 frameshift variant TT/C;T delins 0.010 1.000 1 2018 2018
dbSNP: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs1057519090
rs1057519090
COL4A2
7 0.851 0.160 13 110492105 missense variant G/A snv 0.700 0
dbSNP: rs28936375
rs28936375
CPT2
15 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.700 0
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs1385889785
rs1385889785
FCRL3
2 1.000 0.040 1 157695436 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs204989
rs204989
GPSM3
2 0.925 0.120 6 32194075 intron variant G/A snv 0.21 0.020 1.000 2 2016 2016
dbSNP: rs204991
rs204991
GPSM3
3 0.882 0.200 6 32193589 intron variant T/C snv 0.21 0.010 1.000 1 2016 2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.080 0.875 8 2002 2019
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2006 2006
dbSNP: rs11614913
rs11614913
HOXC6 ; MIR196A2
111 0.512 0.760 12 53991815 mature miRNA variant C/T snv 0.39 0.34 0.020 0.500 2 2013 2019
dbSNP: rs3024498
rs3024498
IL10
7 0.790 0.360 1 206768184 3 prime UTR variant T/C snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
37 0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
52 0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77 0.010 1.000 1 2011 2011
dbSNP: rs848
rs848
IL13 ; TH2LCRR
8 0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67 0.010 1.000 1 2011 2011