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: rs753317536
rs753317536
EVC
12 0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs137852927
rs137852927
2 0.925 0.160 4 5576247 stop gained G/A snv 8.0E-05 7.7E-05 0.700 1.000 4 2002 2015
dbSNP: rs121908425
rs121908425
14 0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 0.700 1.000 3 2000 2018
dbSNP: rs137852924
rs137852924
3 0.882 0.160 4 5640789 stop gained G/A snv 4.8E-05 3.5E-05 0.710 1.000 3 2010 2012
dbSNP: rs1236566474
rs1236566474
1 1.000 0.120 4 5685441 stop gained G/A snv 1.2E-05 7.0E-06 0.700 1.000 2 2007 2009
dbSNP: rs146538906
rs146538906
1 1.000 0.120 4 5618531 stop gained G/A snv 8.0E-06 7.0E-06 0.700 1.000 2 2011 2016
dbSNP: rs1553889992
rs1553889992
1 1.000 0.120 4 5793644 stop gained C/T snv 0.700 1.000 2 2007 2010
dbSNP: rs548681312
rs548681312
1 1.000 0.120 4 5622562 stop gained G/A snv 8.0E-06 0.700 1.000 2 2009 2016
dbSNP: rs73198165
rs73198165
1 1.000 0.120 4 5625766 stop gained G/A;T snv 3.2E-05; 3.9E-03 0.700 1.000 2 2009 2012
dbSNP: rs751356206
rs751356206
2 0.925 0.160 4 5622775 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 2 2007 2015
dbSNP: rs760382778
rs760382778
2 0.925 0.160 4 5618564 stop gained G/A snv 1.2E-05 2.1E-05 0.700 1.000 2 2009 2015
dbSNP: rs767072839
rs767072839
1 1.000 0.120 4 5663228 stop gained T/A;C snv 4.0E-06 5.6E-05 0.700 1.000 2 2009 2013
dbSNP: rs1553850677
rs1553850677
1 1.000 0.120 4 5685417 stop gained C/A snv 0.700 1.000 1 2016 2016
dbSNP: rs748523193
rs748523193
EVC
2 0.925 0.120 4 5729369 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs763363403
rs763363403
1 1.000 0.120 4 5665578 stop gained C/T snv 8.0E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs764397417
rs764397417
1 1.000 0.120 4 5783666 stop gained G/T snv 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs769864196
rs769864196
3 0.882 0.120 4 5631795 stop gained G/A snv 3.2E-05 4.9E-05 0.700 1.000 1 2007 2007
dbSNP: rs770918273
rs770918273
1 1.000 0.120 4 5622554 stop gained C/T snv 2.0E-05 1.4E-05 0.710 1.000 1 2012 2012
dbSNP: rs779915989
rs779915989
1 1.000 0.120 4 5748268 stop gained G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs886037764
rs886037764
1 1.000 0.120 4 5576371 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121908424
rs121908424
1 1.000 0.120 4 5808274 stop gained C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs1305301849
rs1305301849
1 1.000 0.120 4 5565319 stop gained G/A snv 0.700 0
dbSNP: rs137852925
rs137852925
1 1.000 0.120 4 5628590 stop gained G/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1431987950
rs1431987950
1 1.000 0.120 4 5625832 stop gained TCTGCTTGATTGAAA/- del 8.0E-06 0.700 0
dbSNP: rs1446547358
rs1446547358
2 0.925 0.160 4 5798724 stop gained C/T snv 4.1E-06 1.4E-05 0.700 0