Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs796065346
rs796065346
DLL4
0.925 0.080 15 40935046 missense variant G/A snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.800 0
dbSNP: rs796065347
rs796065347
DLL4
0.925 0.080 15 40935045 missense variant T/C snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.800 0
dbSNP: rs796065348
rs796065348
DLL4
0.925 0.080 15 40931664 missense variant C/T snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.800 0
dbSNP: rs796065350
rs796065350
DLL4
0.925 0.080 15 40930649 missense variant G/C snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.800 1.000 0 2015 2015
dbSNP: rs1555393172
rs1555393172
DLL4
15 40936659 frameshift variant CGGACGACGGC/- delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 22 1996 2013
dbSNP: rs1247027543
rs1247027543
DLL4
1.000 15 40936384 missense variant G/A snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.700 1.000 1 2018 2018
dbSNP: rs1555393027
rs1555393027
DLL4
1.000 15 40934646 missense variant A/C snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.700 1.000 1 2018 2018
dbSNP: rs1555393125
rs1555393125
DLL4
1.000 15 40936297 missense variant G/C snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.700 1.000 1 2018 2018
dbSNP: rs1555393182
rs1555393182
DLL4
1.000 15 40936812 stop gained C/T snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.700 1.000 1 2018 2018
dbSNP: rs61750844
rs61750844
DLL4
0.925 0.080 15 40936659 stop gained C/T snv
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs796065344
rs796065344
DLL4
0.925 0.080 15 40936647 stop gained C/T snv
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs796065345
rs796065345
DLL4
0.925 0.080 15 40936352 missense variant C/G;T snv
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs796065346
rs796065346
DLL4
0.925 0.080 15 40935046 missense variant G/A snv
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs796065347
rs796065347
DLL4
0.925 0.080 15 40935045 missense variant T/C snv
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs796065348
rs796065348
DLL4
0.925 0.080 15 40931664 missense variant C/T snv
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs796065349
rs796065349
DLL4
0.925 0.080 15 40932396 missense variant C/A;T snv 4.0E-06
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs796065350
rs796065350
DLL4
0.925 0.080 15 40930649 missense variant G/C snv
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs796065351
rs796065351
DLL4
0.925 0.080 15 40931691 missense variant T/C snv
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs61750844
rs61750844
DLL4
0.925 0.080 15 40936659 stop gained C/T snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.700 0
dbSNP: rs796065344
rs796065344
DLL4
0.925 0.080 15 40936647 stop gained C/T snv
CUI: C4225271
Disease: ADAMS-OLIVER SYNDROME 6
ADAMS-OLIVER SYNDROME 6 		0.700 0