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: rs765433422
rs765433422
7 0.807 0.160 10 87952250 stop gained G/A;T snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017