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: rs573750741
rs573750741
1 1.000 0.240 8 85465470 splice donor variant G/A snv 4.0E-06 0.700 1.000 1 1992 1992
dbSNP: rs118203934
rs118203934
1 1.000 0.240 8 85465357 stop gained T/G snv 0.700 0
dbSNP: rs1554709677
rs1554709677
1 1.000 0.240 8 85464102 stop gained C/A snv 0.700 0