NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777734
rs587777734
0.925 0.120 9 136499229 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.800 1.000 1 2014 2014
dbSNP: rs587777736
rs587777736
0.882 0.240 9 136517908 missense variant A/G snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.800 1.000 1 2014 2014
dbSNP: rs587781259
rs587781259
0.925 0.120 9 136505409 missense variant C/T snv
CUI: C4014970
Disease: ADAMS-OLIVER SYNDROME 5
ADAMS-OLIVER SYNDROME 5
0.800 1.000 1 2014 2014
dbSNP: rs1348892740
rs1348892740
9 136523954 stop gained G/A snv 6.2E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529
1.000 9 136508989 frameshift variant A/- del
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529
1.000 9 136508989 frameshift variant A/- del
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 19 1999 2019
dbSNP: rs1554728529
rs1554728529
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
9 136499244 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 19 1999 2019
dbSNP: rs1057515422
rs1057515422
1.000 0.080 9 136513049 stop gained G/C snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2005 2016
dbSNP: rs1057515423
rs1057515423
1.000 0.080 9 136506852 stop gained G/T snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2005 2016
dbSNP: rs774966208
rs774966208
1.000 0.080 9 136523014 missense variant C/G;T snv
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2009 2016
dbSNP: rs1057523819
rs1057523819
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: rs11574906
rs11574906
1.000 0.040 9 136501661 intron variant T/A snv 8.5E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13300218
rs13300218
0.925 0.040 9 136505189 intron variant G/A snv 7.5E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs13300218
rs13300218
0.925 0.040 9 136505189 intron variant G/A snv 7.5E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs13300218
rs13300218
0.925 0.040 9 136505189 intron variant G/A snv 7.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1448345366
rs1448345366
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
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
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
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
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
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
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
9 136498710 intron variant G/A snv 0.55
Red cell distribution width determination
0.700 1.000 1 2017 2017
dbSNP: rs3124592
rs3124592
9 136498710 intron variant G/A snv 0.55
RDW - Red blood cell distribution width result
0.700 1.000 1 2017 2017