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: rs1563452941
rs1563452941
13 0.882 0.120 8 42437137 stop gained C/A snv 0.700 0
dbSNP: rs387906653
rs387906653
7 0.882 0.120 8 42428829 stop gained C/A;T snv 0.700 0
dbSNP: rs751093906
rs751093906
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0