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 0.040 0.750 4 2008 2017
dbSNP: rs2049046
rs2049046
6 0.827 0.200 11 27702228 intron variant T/A snv 0.48 0.020 1.000 2 2015 2017
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.020 0.500 2 2008 2015
dbSNP: rs12273363
rs12273363
11 0.807 0.120 11 27723312 intron variant T/C snv 0.16 0.010 < 0.001 1 2015 2015