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: rs1319062081
rs1319062081
2 0.925 0.120 21 31668537 stop gained G/T snv 0.010 1.000 1 2015 2015