Gene: CCDC40 ×
Source: CLINVAR ×
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 6 2011 2016
dbSNP: rs1346603171
rs1346603171
CCDC40
1 17 80048762 splice donor variant G/A snv 4.4E-06 0.700 1.000 3 2011 2013
dbSNP: rs1568709952
rs1568709952
CCDC40
1 17 80084989 splice donor variant G/T snv 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 3 2011 2013
dbSNP: rs750708201
rs750708201
CCDC40
1 17 80050062 splice acceptor variant A/G snv 1.6E-05 7.0E-06 0.700 1.000 3 2011 2013
dbSNP: rs747233125
rs747233125
CCDC40
1 17 80086207 stop gained C/G;T snv 8.8E-06 0.700 1.000 2 2011 2013
dbSNP: rs371595543
rs371595543
CCDC40
1 17 80058646 stop gained A/T snv 1.6E-05 7.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs387907092
rs387907092
CCDC40
2 1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06 0.700 1.000 1 2011 2011
dbSNP: rs764011276
rs764011276
CCDC40
1 17 80058955 frameshift variant G/- delins 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs863224519
rs863224519
CCDC40 ; MIR1268B
1 17 80097320 stop gained A/T snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1060501719
rs1060501719
CCDC40
1 17 80087748 frameshift variant CA/ACCG delins 0.700 0
dbSNP: rs1418585908
rs1418585908
CCDC40 ; MIR1268B
1 17 80097352 frameshift variant C/- del 0.700 0
dbSNP: rs1567818236
rs1567818236
CCDC40 ; MIR1268B
1 17 80097378 frameshift variant C/- delins 0.700 0
dbSNP: rs1568667609
rs1568667609
CCDC40
1 17 80040142 stop gained C/T snv 0.700 0
dbSNP: rs374909386
rs374909386
GAA ; CCDC40
1 17 80099700 stop gained C/A;T snv 1.6E-05; 3.2E-05 0.700 0
dbSNP: rs587778819
rs587778819
CCDC40
2 1.000 0.160 17 80089876 frameshift variant -/CTGT;TGT ins 3.6E-05 0.700 0
dbSNP: rs751191119
rs751191119
CCDC40
1 17 80084935 frameshift variant GG/- delins 2.8E-05 7.0E-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
dbSNP: rs762664261
rs762664261
CCDC40
1 17 80099525 splice acceptor variant A/C;G snv 4.1E-06 0.700 0
dbSNP: rs764551914
rs764551914
CCDC40
1 17 80040133 stop gained C/T snv 8.0E-06 0.700 0
dbSNP: rs773796940
rs773796940
CCDC40
1 17 80088062 stop gained G/A;T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs774081599
rs774081599
CCDC40
1 17 80087606 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs775299709
rs775299709
CCDC40
1 17 80058610 stop gained G/A;T snv 4.0E-06 0.700 0
dbSNP: rs878855041
rs878855041
CCDC40
1 17 80081602 frameshift variant C/- delins 0.700 0
dbSNP: rs878855042
rs878855042
CCDC40
1 17 80095281 frameshift variant -/T delins 0.700 0