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: rs351855
rs351855
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.780 0.900 10 2005 2017
dbSNP: rs2011077
rs2011077
8 0.807 0.080 5 177094455 intron variant C/T snv 0.19 0.010 1.000 1 2008 2008