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: rs1169288
rs1169288
21 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 7 2010 2019
dbSNP: rs1183910
rs1183910
5 1.000 0.080 12 120983004 intron variant G/A snv 0.28 0.700 1.000 1 2016 2016
dbSNP: rs2244608
rs2244608
9 0.882 0.160 12 120979185 intron variant A/G snv 0.29 0.700 1.000 1 2019 2019