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: rs143141689
rs143141689
3 0.882 0.280 1 52397773 missense variant C/T snv 9.5E-05 1.6E-04 0.010 1.000 1 2015 2015