NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
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: rs10923931
rs10923931 		0.925 0.120 1 119975336 intron variant G/T snv 0.17
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.820 1.000 7 2007 2017
dbSNP: rs111033632
rs111033632 		0.925 0.120 1 119967555 missense variant C/T snv
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.800 1.000 1 2006 2006
dbSNP: rs771237928
rs771237928 		0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 4 1996 2016
dbSNP: rs771237928
rs771237928 		0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C2698259
Disease: Monoclonal B-Cell Lymphocytosis
Monoclonal B-Cell Lymphocytosis 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 2 2012 2012
dbSNP: rs10923929
rs10923929 		1 119963373 intron variant G/C;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs10923931
rs10923931 		0.925 0.120 1 119975336 intron variant G/T snv 0.17
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1553193507
rs1553193507 		1.000 0.080 1 119915869 stop gained G/A snv
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1557802165
rs1557802165 		1.000 0.080 1 119916219 frameshift variant G/- delins
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2493394
rs2493394 		1.000 0.080 1 119928601 intron variant A/G snv 0.17
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2793829
rs2793829 		1.000 0.080 1 119918630 intron variant C/T snv 0.17
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs372562666
rs372562666 		1.000 0.080 1 120018691 intron variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs835573
rs835573 		1.000 0.080 1 119921542 intron variant C/A;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs111033632
rs111033632 		0.925 0.120 1 119967555 missense variant C/T snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1325403451
rs1325403451 		1.000 0.080 1 119915524 stop gained G/A snv 8.0E-06
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553193485
rs1553193485 		1.000 0.080 1 119915644 stop gained G/A snv
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553193507
rs1553193507 		1.000 0.080 1 119915869 stop gained G/A snv
CUI: C0151526
Disease: Premature Birth
Premature Birth 		Female Urogenital Diseases and Pregnancy Complications 0.700 0
dbSNP: rs1553193574
rs1553193574 		1.000 0.080 1 119916272 frameshift variant AG/- del
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1553193977
rs1553193977 		1.000 0.080 1 119920363 frameshift variant T/- del
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557801639
rs1557801639 		1.000 0.080 1 119915603 stop gained A/C snv
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557802353
rs1557802353 		1.000 0.080 1 119916450 frameshift variant A/- delins
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs1557804111
rs1557804111 		1.000 0.120 1 119920277 stop gained G/A snv
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262793
rs312262793 		1.000 0.120 1 119968224 missense variant A/G snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262794
rs312262794 		1.000 0.120 1 119968161 missense variant G/A snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262795
rs312262795 		1.000 0.120 1 119968194 missense variant G/A snv
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs312262798
rs312262798 		0.925 0.120 1 119917763 splice acceptor variant C/T snv
CUI: C1857761
Disease: Alagille Syndrome 2
Alagille Syndrome 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases 0.700 0