Source: CLINVAR ×
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: rs1057519843
rs1057519843
APC
1 5 112839522 frameshift variant AAGATTGGAAC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519844
rs1057519844
APC
1 5 112839522 frameshift variant AAGATTGGAACTAGGTCAGC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519845
rs1057519845
APC
1 5 112839990 frameshift variant GGACC/- del 0.700 1.000 1 2014 2014
dbSNP: rs1057519846
rs1057519846
APC
1 5 112840263 frameshift variant ATTGATTC/- del 0.700 1.000 1 2014 2014