Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs370706991
CCDC40
1.000 0.120 17 80089763 splice acceptor variant G/A;T snv 4.0E-06; 3.6E-05 2
rs387907092
CCDC40
1.000 0.120 17 80082020 stop gained C/A;T snv 4.0E-06 2
rs397515393
CCDC40
1.000 0.120 17 80039966 frameshift variant C/- del 4.4E-04 2.9E-04 2
rs587778819
CCDC40
1.000 0.160 17 80089876 frameshift variant -/CTGT;TGT ins 3.6E-05 2
rs754867753
CCDC40
1.000 0.120 17 80050085 stop gained C/T snv 2.4E-05 7.0E-06 2
rs1060501719
CCDC40
17 80087748 frameshift variant CA/ACCG delins 1
rs1346603171
CCDC40
17 80048762 splice donor variant G/A snv 4.4E-06 1
rs1568667609
CCDC40
17 80040142 stop gained C/T snv 1
rs1568709952
CCDC40
17 80084989 splice donor variant G/T snv 1
rs371595543
CCDC40
17 80058646 stop gained A/T snv 1.6E-05 7.0E-06 1
rs747233125
CCDC40
17 80086207 stop gained C/G;T snv 8.8E-06 1
rs750708201
CCDC40
17 80050062 splice acceptor variant A/G snv 1.6E-05 7.0E-06 1
rs751191119
CCDC40
17 80084935 frameshift variant GG/- delins 2.8E-05 7.0E-06 1
rs762664261
CCDC40
17 80099525 splice acceptor variant A/C;G snv 4.1E-06 1
rs764011276
CCDC40
17 80058955 frameshift variant G/- delins 7.0E-06 1
rs764551914
CCDC40
17 80040133 stop gained C/T snv 8.0E-06 1
rs773796940
CCDC40
17 80088062 stop gained G/A;T snv 8.0E-06 2.1E-05 1
rs774081599
CCDC40
17 80087606 splice acceptor variant G/A snv 4.0E-06 1
rs775299709
CCDC40
17 80058610 stop gained G/A;T snv 4.0E-06 1
rs878855041
CCDC40
17 80081602 frameshift variant C/- delins 1
rs878855042
CCDC40
17 80095281 frameshift variant -/T delins 1
rs374909386
CCDC40 ; GAA
17 80099700 stop gained C/A;T snv 1.6E-05; 3.2E-05 1
rs1567818236
CCDC40 ; MIR1268B
17 80097378 frameshift variant C/- delins 1
rs863224519
CCDC40 ; MIR1268B
17 80097320 stop gained A/T snv 7.0E-06 1
rs1418585908
MIR1268B ; CCDC40
17 80097352 frameshift variant C/- del 1