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: rs121908117
rs121908117
17 0.708 0.440 3 48466707 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs370504038
rs370504038
4 0.851 0.160 3 48467569 missense variant A/G snv 1.2E-04 1.2E-04 0.010 1.000 1 2011 2011
dbSNP: rs72556554
rs72556554
9 0.776 0.400 3 48466996 missense variant G/A;C snv 2.1E-04; 2.7E-04 0.010 1.000 1 2011 2011