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: rs147993982
rs147993982
1 1.000 16 90040460 missense variant C/T snv 2.1E-05 1.4E-05 0.700 1.000 3 2015 2016
dbSNP: rs566755911
rs566755911
1 1.000 16 90040357 stop gained C/T snv 4.2E-06 0.700 0