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: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.730 1.000 8 2012 2019
dbSNP: rs3136516
rs3136516
F2
2 1.000 0.080 11 46739206 intron variant G/A snv 0.38 0.700 1.000 2 2017 2019
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.100 0.895 19 2000 2015
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.100 1.000 15 1999 2019
dbSNP: rs552953108
rs552953108
F2
16 0.724 0.200 11 46729529 missense variant G/A snv 1.6E-05 4.2E-05 0.060 1.000 6 1999 2019
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.020 1.000 2 1999 2007
dbSNP: rs387907201
rs387907201
F2
4 1.000 0.080 11 46739326 missense variant G/A;T snv 0.020 1.000 2 2016 2018
dbSNP: rs1183827513
rs1183827513
F2
1 11 46739325 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs776445885
rs776445885
F2
2 11 46728086 synonymous variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs780225764
rs780225764
F2
2 1.000 0.080 11 46726797 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2012 2012