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: rs6050
rs6050
FGA
10 0.827 0.120 4 154586438 missense variant T/A;C snv 0.29 0.710 1.000 2 2006 2011
dbSNP: rs1432422306
rs1432422306
FGA
3 0.925 0.120 4 154586432 frameshift variant TTCCAGT/- del 4.0E-06 0.010 1.000 1 2006 2006