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 1.000 4 2011 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2011 2016
dbSNP: rs1415125856
rs1415125856
7 0.827 0.120 11 27658550 splice region variant G/A snv 4.0E-06 2.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs2049046
rs2049046
6 0.827 0.200 11 27702228 intron variant T/A snv 0.48 0.010 1.000 1 2018 2018