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: rs1043210477
rs1043210477
GPX1
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1043307
rs1043307
PSMD9
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2016 2017
dbSNP: rs1048101
rs1048101
ADRA1A
5 0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56 0.010 1.000 1 2014 2014
dbSNP: rs104886142
rs104886142
COL4A5
10 0.790 0.280 X 108598793 missense variant G/A snv 8.7E-05 4.7E-05 0.700 0
dbSNP: rs10489177
rs10489177
C1orf112 ; METTL18
4 0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19 0.010 1.000 1 2014 2014
dbSNP: rs104893831
rs104893831
VHL
4 0.925 0.040 3 10146549 missense variant G/A;C;T snv 2.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs104893914
rs104893914
NR3C1
2 1.000 0.080 5 143282714 missense variant C/T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs104894145
rs104894145
CYP17A1 ; WBP1L ; CYP17A1-AS1
3 0.925 0.240 10 102830946 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs10491093
rs10491093 		1 17 10978681 intergenic variant T/G snv 0.72 0.010 1.000 1 2008 2008
dbSNP: rs10491334
rs10491334
CAMK4
1 5 111436706 intron variant C/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs1049331
rs1049331
HTRA1 ; LOC105378525
5 0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23 0.010 1.000 1 2011 2011
dbSNP: rs10496288
rs10496288 		1 2 83065441 intergenic variant T/C snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs10496289
rs10496289 		1 2 83066256 intergenic variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs10501367
rs10501367
APLNR
2 1.000 0.040 11 57238113 upstream gene variant T/C snv 0.73 0.040 1.000 4 2009 2018
dbSNP: rs1050450
rs1050450
GPX1
43 0.623 0.600 3 49357401 missense variant G/A snv 0.28 0.30 0.020 0.500 2 2014 2017
dbSNP: rs1050606
rs1050606
ANXA5
2 1.000 0.080 4 121696891 5 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs10509676
rs10509676
CYP2C19
1 10 94763288 intron variant A/G;T snv 0.16 0.010 1.000 1 2011 2011
dbSNP: rs10509681
rs10509681
CYP2C8
8 0.807 0.160 10 95038992 missense variant T/C snv 8.3E-02 8.0E-02 0.010 1.000 1 2005 2005
dbSNP: rs1051730
rs1051730
CHRNA3
43 0.641 0.600 15 78601997 synonymous variant G/A snv 0.27 0.26 0.010 < 0.001 1 2015 2015
dbSNP: rs10519963
rs10519963
NR3C2
1 4 148376523 intron variant G/A snv 0.12 0.010 1.000 1 2011 2011
dbSNP: rs10520097
rs10520097
LPIN1
1 2 11793260 intron variant A/G snv 0.12 0.010 1.000 1 2008 2008
dbSNP: rs1054889
rs1054889
XDH
1 2 31334442 3 prime UTR variant G/A snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1057293
rs1057293
SGK1
4 0.925 0.120 6 134172259 synonymous variant G/A snv 0.12 0.11 0.010 1.000 1 2011 2011
dbSNP: rs1057518797
rs1057518797
PKD2
3 4 88008090 frameshift variant CCCGGGCA/TAGGACG delins 0.700 0