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: rs104894018
rs104894018
1 1.000 0.200 7 27095837 stop gained G/A;C snv 2.4E-05 0.700 0
dbSNP: rs769152039
rs769152039
2 0.925 0.200 7 27095737 frameshift variant -/C delins 0.700 0