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: rs1017715903
rs1017715903
MPZ
2 1.000 0.080 1 161306854 stop gained C/T snv 0.010 1.000 1 2012 2012