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: rs397515393
rs397515393
CCDC40
2 1.000 0.120 17 80039966 frameshift variant C/- del 4.4E-04 2.9E-04 0.700 1.000 3 2011 2013
dbSNP: rs370706991
rs370706991
CCDC40
2 1.000 0.120 17 80089763 splice acceptor variant G/A;T snv 4.0E-06; 3.6E-05 0.700 1.000 2 2012 2013
dbSNP: rs387907091
rs387907091
CCDC40
1 1.000 0.120 17 80058649 stop gained C/T snv 0.700 0
dbSNP: rs387907092
rs387907092
CCDC40
2 1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs387907093
rs387907093
CCDC40
1 1.000 0.120 17 80058885 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs754867753
rs754867753
CCDC40
2 1.000 0.120 17 80050085 stop gained C/T snv 2.4E-05 7.0E-06 0.700 0