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: rs1143629
rs1143629
3 0.882 0.160 2 112835941 intron variant G/A snv 0.60 0.010 1.000 1 2017 2017
dbSNP: rs2527367
rs2527367
2 0.925 0.080 7 74684804 5 prime UTR variant C/T snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 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 1.000 1 2017 2017
dbSNP: rs6330
rs6330
12 0.763 0.240 1 115286692 missense variant G/A snv 0.37 0.36 0.010 1.000 1 2017 2017