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: rs67311347
rs67311347
ZNF620
2 0.925 0.120 3 40491752 intron variant G/A snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs132770
rs132770
XRCC6 ; DESI1
14 0.752 0.320 22 41621260 5 prime UTR variant A/G snv 0.83 0.030 1.000 3 2012 2015
dbSNP: rs2267437
rs2267437
XRCC6 ; DESI1
19 0.724 0.320 22 41620695 intron variant C/A;G snv 0.030 1.000 3 2012 2015
dbSNP: rs5751129
rs5751129
XRCC6 ; DESI1
14 0.752 0.320 22 41619761 intron variant C/T snv 0.69 0.020 1.000 2 2012 2015
dbSNP: rs132774
rs132774
XRCC6
9 0.776 0.280 22 41635949 intron variant C/G snv 0.69 0.010 1.000 1 2012 2012
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2006 2006
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
dbSNP: rs104893829
rs104893829
VHL
4 0.882 0.240 3 10142088 missense variant C/T snv 2.0E-04 3.8E-04 0.020 1.000 2 2013 2017
dbSNP: rs1064794272
rs1064794272
VHL
6 0.807 0.240 3 10146566 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs1642742
rs1642742
VHL
1 1.000 0.120 3 10150259 3 prime UTR variant G/A snv 0.57 0.010 1.000 1 2018 2018
dbSNP: rs1642743
rs1642743
VHL
1 1.000 0.120 3 10148783 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs28940297
rs28940297
VHL
4 0.882 0.240 3 10149811 missense variant T/C;G snv 0.700 1.000 1 2002 2002
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs5030821
rs5030821
VHL
8 0.827 0.280 3 10149823 missense variant G/A;C;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs776399733
rs776399733
VHL
3 0.882 0.120 3 10141965 missense variant C/A;T snv 6.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs779805
rs779805
VHL
4 0.851 0.120 3 10141653 5 prime UTR variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs869025621
rs869025621
VHL
4 0.882 0.240 3 10142079 missense variant A/C;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs869025668
rs869025668
VHL
3 0.882 0.240 3 10149964 stop lost G/T snv 0.010 1.000 1 2011 2011
dbSNP: rs397516440
rs397516440
VHL
4 0.851 0.280 3 10142166 missense variant C/G;T snv 4.5E-06 0.700 0
dbSNP: rs5030820
rs5030820
VHL
6 0.827 0.280 3 10149822 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.040 0.750 4 2017 2018
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2007 2017
dbSNP: rs2010963
rs2010963
VEGFA
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.030 0.667 3 2014 2017
dbSNP: rs3025039
rs3025039
VEGFA
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.030 1.000 3 2013 2017