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: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1475170339
rs1475170339
18 0.732 0.240 16 1792325 missense variant T/C;G snv 0.010 1.000 1 2002 2002
dbSNP: rs33939927
rs33939927
24 0.708 0.120 12 40310434 missense variant C/A;G;T snv 4.0E-06; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs6324
rs6324
1 X 43767568 synonymous variant G/A snv 5.0E-02 2.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs63750215
rs63750215
19 0.701 0.240 1 226885603 missense variant A/T snv 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: rs6609257
rs6609257
1 X 43753461 intergenic variant G/A snv 0.47 0.010 1.000 1 2012 2012