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: rs63750258
rs63750258
5 0.851 0.200 2 47800966 stop gained G/A;C;T snv 0.010 1.000 1 2005 2005