Gene: ACE ×
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: rs797045079
rs797045079
ACE
1 1.000 0.120 17 63477106 frameshift variant CTCGGGCCGCCGGGGGCCGG/- del 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs121912704
rs121912704
ACE
1 1.000 0.120 17 63480479 stop gained C/A;G;T snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs387906576
rs387906576
ACE
1 1.000 0.120 17 63482666 frameshift variant TGGA/- del 0.700 0
dbSNP: rs397514688
rs397514688
ACE
1 1.000 0.120 17 63483172 stop gained C/T snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs397514689
rs397514689
ACE
1 1.000 0.120 17 63488713 stop gained C/T snv 1.6E-05 0.700 0
dbSNP: rs778390161
rs778390161
ACE
1 1.000 0.120 17 63490953 splice acceptor variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs779188587
rs779188587
ACE
1 1.000 0.120 17 63496517 splice donor variant G/A;C snv 2.0E-05 0.700 0