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: rs63750937
rs63750937
1 1.000 0.080 2 47478424 frameshift variant CT/- del 0.700 1.000 5 2005 2013
dbSNP: rs587783055
rs587783055
1 1.000 0.080 2 47429935 frameshift variant -/A delins 0.700 1.000 4 1998 2014
dbSNP: rs587783053
rs587783053
1 1.000 0.080 2 47478364 frameshift variant A/- delins 0.700 1.000 2 2006 2014