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: rs2239785
rs2239785
5 0.827 0.240 22 36265284 missense variant G/A snv 0.79 0.68 0.700 1.000 1 2010 2010
dbSNP: rs71785313
rs71785313
5 0.882 0.120 22 36265996 inframe deletion TTATAA/- delins 0.700 0