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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2010 2015
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 1.000 2 2013 2015
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2008 2008
dbSNP: rs58532686
rs58532686
1 1.000 0.040 16 55652905 upstream gene variant CT/- del 5.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs6295
rs6295
40 0.645 0.200 5 63962738 intron variant C/G snv 0.49 0.010 1.000 1 2008 2008
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2015 2015
dbSNP: rs7103411
rs7103411
15 0.752 0.160 11 27678578 intron variant C/T snv 0.82 0.010 1.000 1 2010 2010
dbSNP: rs806371
rs806371
4 0.882 0.040 6 88146644 intron variant T/G snv 0.18 0.010 1.000 1 2013 2013