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: rs121908761
rs121908761
1 0.851 0.160 7 117611717 stop gained C/A;G snv 1.2E-05 0.710 1.000 1 1992 2013