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: rs1553630279
rs1553630279
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017