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: rs72553882
rs72553882
2 0.925 0.080 17 16940465 stop gained G/C;T snv 4.0E-05 0.700 1.000 1 2009 2009