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: rs886037751
rs886037751
CFAP53
2 0.925 0.080 18 50261065 missense variant T/C snv 1.3E-05 1.4E-05 0.700 1.000 2 2012 2016
dbSNP: rs375801610
rs375801610
CFAP53
1 1.000 18 50262168 stop gained G/A;C snv 2.4E-05; 4.0E-06 0.700 0