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: rs1355278372
rs1355278372
CFAP69
1 1.000 7 90271640 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1554359569
rs1554359569
CFAP69
1 1.000 7 90271861 stop gained C/T snv 0.700 0
dbSNP: rs1554359685
rs1554359685
CFAP69
1 1.000 7 90271959 splice donor variant G/A snv 0.700 0
dbSNP: rs764048407
rs764048407
CFAP69
1 1.000 7 90277247 frameshift variant -/AC delins 7.0E-06 0.700 0