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: rs10824026
rs10824026
1 1.000 0.080 10 73661450 intron variant G/A snv 0.68 0.810 1.000 3 2012 2017
dbSNP: rs60212594
rs60212594
1 1.000 0.080 10 73654586 intron variant G/A;C snv 0.15 0.700 1.000 2 2018 2018
dbSNP: rs6480708
rs6480708
1 1.000 0.080 10 73660356 intron variant C/A snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs7394190
rs7394190
2 1.000 0.080 10 73661890 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs3812629
rs3812629
1 1.000 0.080 10 73647532 missense variant G/A;C snv 0.16; 4.2E-06; 4.2E-06 0.010 1.000 1 2016 2016
dbSNP: rs748289455
rs748289455
1 1.000 0.080 10 73647532 frameshift variant -/A ins 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs774557864
rs774557864
1 1.000 0.080 10 73647532 frameshift variant G/-;GG;GGG delins 1.5E-05 0.010 1.000 1 2016 2016