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: rs119103263
rs119103263
19 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
dbSNP: rs121912854
rs121912854
16 0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs121912855
rs121912855
16 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
dbSNP: rs1555968941
rs1555968941
31 0.752 0.280 12 2653847 missense variant G/A;C snv 0.700 0