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: rs373436822
rs373436822
1 1.000 0.120 1 220126827 stop gained G/A snv 4.0E-06 0.700 1.000 1 2014 2014