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 2016 2016
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 < 0.001 1 2017 2017
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 < 0.001 1 2017 2017
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs63750424
rs63750424
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs28933385
rs28933385
25 0.695 0.320 20 4699818 missense variant G/A snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs767181086
rs767181086
11 0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs63749884
rs63749884
5 0.851 0.160 1 226888979 missense variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs761592007
rs761592007
4 0.882 0.160 19 44909013 missense variant G/A snv 1.5E-05 0.010 1.000 1 2012 2012
dbSNP: rs7695558
rs7695558
3 0.925 0.160 4 87506854 intron variant A/G snv 0.17 0.010 1.000 1 2018 2018