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: rs1565519673
rs1565519673
2 1.000 0.120 11 121118355 frameshift variant -/T ins 0.700 0
dbSNP: rs1565536400
rs1565536400
2 1.000 0.120 11 121168792 stop gained C/T snv 0.700 0
dbSNP: rs1565541888
rs1565541888
2 1.000 0.120 11 121187999 splice region variant G/A snv 0.700 0
dbSNP: rs368050948
rs368050948
2 1.000 0.120 11 121130006 stop gained C/A;T snv 3.2E-05 1.4E-04 0.700 0