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: rs10108511
rs10108511
2 0.925 0.080 8 11578007 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1035142
rs1035142
7 0.807 0.200 2 201288355 3 prime UTR variant T/C;G snv 0.54 0.010 1.000 1 2011 2011
dbSNP: rs10419226
rs10419226
5 0.925 0.080 19 18692362 intron variant T/G snv 0.67 0.800 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2010 2013
dbSNP: rs1059536
rs1059536
3 1.000 0.080 6 29943448 missense variant A/C;G;T snv 4.1E-06; 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 0.667 3 2010 2013
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2012 2012
dbSNP: rs11775256
rs11775256
1 1.000 0.080 8 23193972 intron variant C/T snv 0.21 0.010 1.000 1 2011 2011
dbSNP: rs11789015
rs11789015
6 0.882 0.080 9 93953746 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs11901649
rs11901649
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11941492
rs11941492
KDR
2 1.000 0.080 4 55112043 intron variant C/T snv 0.24 0.020 1.000 2 2011 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12465911
rs12465911
2 0.925 0.080 2 150929228 intergenic variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs1247942
rs1247942
2 0.925 0.080 12 114235918 downstream gene variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1263178238
rs1263178238
2 0.925 0.080 19 51338047 missense variant T/C snv 2.6E-05 4.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 1.000 3 2005 2008
dbSNP: rs13396805
rs13396805
2 0.925 0.080 2 150964998 intergenic variant C/T snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs13429103
rs13429103
1 1.000 0.080 2 7377100 intergenic variant G/A snv 0.16 0.710 1.000 1 2018 2018
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.020 0.500 2 2010 2013
dbSNP: rs17002540
rs17002540
1 1.000 0.080 X 140863896 intergenic variant C/T snv 0.20 0.700 1.000 1 2018 2018
dbSNP: rs17451754
rs17451754
2 0.925 0.080 7 117616658 intron variant G/A snv 0.10 0.710 1.000 1 2016 2016
dbSNP: rs17619601
rs17619601
1 1.000 0.080 13 28326373 intron variant C/T snv 5.0E-02 0.010 1.000 1 2012 2012
dbSNP: rs17625898
rs17625898
1 1.000 0.080 13 28358693 intron variant T/A;G snv 0.010 1.000 1 2012 2012
dbSNP: rs17708574
rs17708574
1 1.000 0.080 5 150141675 intron variant G/A snv 8.2E-02 0.010 1.000 1 2012 2012
dbSNP: rs17749155
rs17749155
2 0.925 0.080 8 10210563 intron variant G/A snv 0.16 0.700 1.000 1 2016 2016