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
8 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.730 1.000 2 2009 2018
dbSNP: rs2244608
rs2244608
6 0.882 0.160 12 120979185 intron variant A/G snv 0.29 0.700 1.000 3 2017 2018