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: rs1553479405
rs1553479405
3 1.000 2 120989603 frameshift variant C/- del 0.700 1.000 5 2003 2013
dbSNP: rs869312965
rs869312965
2 1.000 2 120955349 frameshift variant G/- del 0.700 1.000 5 2003 2013