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: 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: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.010 1.000 1 2008 2008
dbSNP: rs3219472
rs3219472
3 0.882 0.160 1 45338378 5 prime UTR variant C/T snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs4661636
rs4661636
2 0.925 0.160 1 15496566 intron variant C/T snv 0.24 0.010 1.000 1 2010 2010
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: rs11901649
rs11901649
3 0.882 0.080 2 21027351 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019
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: 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: rs2341926
rs2341926
2 0.925 0.080 2 150927414 intergenic variant A/G snv 0.20 0.010 1.000 1 2018 2018
dbSNP: rs7255
rs7255
3 0.925 0.080 2 20679060 3 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs2687201
rs2687201
6 0.925 0.080 3 70879779 intergenic variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs2687202
rs2687202
2 0.925 0.080 3 70880832 regulatory region variant T/C snv 0.64 0.700 1.000 1 2016 2016
dbSNP: rs4676893
rs4676893
3 0.882 0.080 3 70868488 intergenic variant A/T snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs696217
rs696217
32 0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs7632500
rs7632500
5 0.925 0.080 3 168007561 downstream gene variant A/G snv 0.17 0.700 1.000 1 2013 2013
dbSNP: rs9823696
rs9823696
2 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.710 1.000 1 2016 2016
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: rs2114039
rs2114039
2 1.000 0.080 4 54226459 intron variant T/C snv 0.40 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: rs2434584
rs2434584
1 1.000 0.080 5 58270246 intergenic variant G/A snv 0.94 0.700 1.000 1 2018 2018
dbSNP: rs75783973
rs75783973
1 1.000 0.080 5 668194 intron variant G/A snv 2.9E-04 0.700 1.000 1 2016 2016
dbSNP: rs9918259
rs9918259
2 0.925 0.080 5 662977 3 prime UTR variant C/T snv 2.1E-03 0.700 1.000 1 2016 2016
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