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: rs34612342
rs34612342
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.020 1.000 2 2002 2019
dbSNP: rs36053993
rs36053993
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.010 1.000 1 2019 2019