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: rs1408705745
rs1408705745
1 1.000 0.080 6 149676695 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1565941245
rs1565941245
1 1.000 0.080 13 20979763 frameshift variant -/G ins 0.700 0