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: rs28935480
rs28935480
CFP
1 1.000 0.080 X 47626820 missense variant C/A snv 0.800 1.000 5 1996 2019
dbSNP: rs132630259
rs132630259
CFP
2 0.925 0.080 X 47628207 missense variant G/A snv 0.700 1.000 5 1996 2019
dbSNP: rs132630261
rs132630261
CFP
2 0.925 0.080 X 47626062 missense variant A/C;G snv 0.700 1.000 5 1996 2019
dbSNP: rs132630258
rs132630258
CFP
1 1.000 0.080 X 47627564 stop gained G/A snv 0.700 0
dbSNP: rs132630260
rs132630260
CFP
1 1.000 0.080 X 47627290 stop gained G/C snv 0.700 0