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: rs13002853
rs13002853
5 0.925 0.120 2 27630378 intron variant C/G snv 0.20 0.700 1.000 1 2010 2010
dbSNP: rs3749147
rs3749147
8 0.882 0.120 2 27629051 missense variant G/A snv 0.23 0.20 0.700 1.000 1 2010 2010