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: rs1064796738
rs1064796738
5 1.000 0.240 10 92606655 stop gained C/T snv 0.700 1.000 2 2014 2014