Source: ALL

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: rs1348892740
rs1348892740
NOTCH1
9 136523954 stop gained G/A snv 6.2E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529
NOTCH1
1.000 9 136508989 frameshift variant A/- del
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1999 2019
dbSNP: rs1554826746
rs1554826746
NOTCH1
9 136499244 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 19 1999 2019
dbSNP: rs1057523819
rs1057523819
NOTCH1
1.000 9 136517800 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1387329667
rs1387329667
NOTCH1
9 136500595 missense variant G/A snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2015 2015
dbSNP: rs1387329667
rs1387329667
NOTCH1
9 136500595 missense variant G/A snv
CUI: C0302142
Disease: Deformity
Deformity 		0.010 1.000 1 2015 2015
dbSNP: rs1448345366
rs1448345366
NOTCH1
1.000 9 136510689 missense variant G/A snv 4.2E-06 7.0E-06
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554727954
rs1554727954
NOTCH1
1.000 9 136505347 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554728424
rs1554728424
NOTCH1
1.000 9 136508276 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554729113
rs1554729113
NOTCH1
1.000 9 136513108 stop gained C/A;T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554729443
rs1554729443
NOTCH1
1.000 9 136515368 frameshift variant CA/- delins
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554730184
rs1554730184
NOTCH1 ; MIR4673
1.000 9 136519511 frameshift variant CAGT/GG delins
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs1554730670
rs1554730670
NOTCH1
1.000 9 136523177 stop gained G/A snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs3124592
rs3124592
NOTCH1
9 136498710 intron variant G/A snv 0.55
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs3124592
rs3124592
NOTCH1
9 136498710 intron variant G/A snv 0.55
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs3124596
rs3124596
NOTCH1
9 136507052 intron variant G/A snv 0.57
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs587777735
rs587777735
NOTCH1 ; MIR4673
1.000 9 136519566 splice acceptor variant C/A snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2014 2014
dbSNP: rs587778569
rs587778569
NOTCH1
1.000 9 136505674 stop gained C/A;T snv 2.1E-05 4.2E-05
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018
dbSNP: rs6563
rs6563
NOTCH1
9 136494732 3 prime UTR variant A/G snv 0.51
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.010 1.000 1 2019 2019
dbSNP: rs746342893
rs746342893
NOTCH1
1.000 9 136505028 stop gained C/A;T snv 5.1E-05
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs754529382
rs754529382
NOTCH1
1.000 9 136518172 missense variant G/A;C snv 1.4E-05
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2015 2015
dbSNP: rs756434709
rs756434709
NOTCH1
9 136514670 missense variant C/T snv 2.0E-05 7.0E-06
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 2011 2011
dbSNP: rs771590616
rs771590616
NOTCH1
1.000 9 136515976 splice region variant C/T snv 7.0E-06
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5 		0.700 1.000 1 2018 2018