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: rs1001179
rs1001179
CAT
33 0.641 0.680 11 34438684 upstream gene variant C/T snv 0.16 0.010 < 0.001 1 2014 2014
dbSNP: rs10033464
rs10033464
8 0.807 0.200 4 110799605 downstream gene variant T/G snv 0.86 0.010 < 0.001 1 2012 2012
dbSNP: rs10046
rs10046
18 0.708 0.400 15 51210789 3 prime UTR variant G/A snv 0.45 0.43 0.010 1.000 1 2015 2015
dbSNP: rs10050860
rs10050860
4 0.882 0.240 5 96786506 missense variant C/T snv 0.15 0.16 0.010 1.000 1 2018 2018
dbSNP: rs10086846
rs10086846
1 8 142915715 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10118757
rs10118757
7 0.827 0.120 9 21853340 intron variant A/G snv 0.26 0.010 1.000 1 2009 2009
dbSNP: rs1012657750
rs1012657750
2 1 151368294 missense variant G/C snv 0.010 1.000 1 2020 2020
dbSNP: rs1020608562
rs1020608562
9 0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs10224002
rs10224002
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs1037733674
rs1037733674
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs1040288
rs1040288
3 1.000 0.040 4 148126966 intron variant G/C snv 0.49 0.010 1.000 1 2011 2011
dbSNP: rs1042039
rs1042039
XDH
1 2 31335440 3 prime UTR variant T/C snv 0.41 0.010 1.000 1 2015 2015
dbSNP: rs1042309696
rs1042309696
ACE
2 17 63487006 synonymous variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs1043210477
rs1043210477
19 0.701 0.520 3 49358250 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1048101
rs1048101
5 0.882 0.120 8 26770511 missense variant A/G snv 0.52 0.56 0.010 1.000 1 2014 2014
dbSNP: rs10489177
rs10489177
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
2 1.000 0.080 5 143282714 missense variant C/T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs104894145
rs104894145
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
1 5 111436706 intron variant C/T snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs1049331
rs1049331
5 0.851 0.040 10 122461754 synonymous variant C/T snv 0.32 0.23 0.010 1.000 1 2011 2011
dbSNP: rs1050606
rs1050606
2 1.000 0.080 4 121696891 5 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017