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: rs368209619
rs368209619
CFHR5
1 1.000 1 196995786 frameshift variant A/- delins 0.700 0
dbSNP: rs565457964
rs565457964
CFHR5
1 1.000 1 196994128 frameshift variant -/A;AA delins 2.0E-03; 6.3E-03 0.700 0
dbSNP: rs751010317
rs751010317
CFHR5
1 1.000 1 196998150 stop gained C/A snv 1.2E-04 2.1E-05 0.700 0