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: rs72824905
rs72824905
6 0.827 0.200 16 81908423 missense variant C/G;T snv 5.2E-03 0.020 1.000 2 2018 2019