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: rs104894523
rs104894523
1 16 89919733 missense variant C/A;T snv 0.700 0
dbSNP: rs104894524
rs104894524
1 16 89919728 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1310082996
rs1310082996
1 16 89919695 inframe deletion TCT/- delins 4.1E-06 0.700 0