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
6 0.776 0.160 12 120978847 missense variant A/C;T snv 0.35 0.800 1.000 2 2010 2019
dbSNP: rs2650000
rs2650000
7 0.851 0.200 12 120951159 intron variant A/C snv 0.70 0.800 1.000 1 2009 2009