Source: ALL
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: rs1222208628
rs1222208628
TAP2
1 1.000 0.120 6 32832332 splice donor variant C/T snv 7.0E-06 0.700 1.000 4 1994 2014
dbSNP: rs1321880935
rs1321880935
TAP2
1 1.000 0.120 6 32838016 frameshift variant TG/- delins 4.1E-06 0.700 0
dbSNP: rs1562331529
rs1562331529
TAP2
1 1.000 0.120 6 32832812 frameshift variant C/- delins 0.700 0