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: rs149698066
rs149698066
1 1.000 0.040 19 40458157 stop gained G/A;T snv 3.1E-03 0.010 1.000 1 2016 2016