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: rs1554271741
rs1554271741
2 0.925 7 2919373 stop gained G/A snv 0.700 0
dbSNP: rs200456391
rs200456391
1 1.000 7 2910168 splice region variant G/A snv 5.8E-04 7.5E-04 0.700 0
dbSNP: rs397514686
rs397514686
1 1.000 7 2915243 stop gained G/A snv 0.700 0