CD44, CD44 molecule (Indian blood group), 960

N. diseases: 711; N. variants: 47
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: rs187115
rs187115 		0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs187115
rs187115 		0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs187115
rs187115 		0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs187115
rs187115 		0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs187115
rs187115 		0.695 0.320 11 35154612 intron variant T/C snv 0.37
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2012 2018
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2016 2016
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 0.667 3 2012 2018
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2016 2016
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.020 1.000 2 2013 2014
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs13347
rs13347 		0.763 0.320 11 35231725 3 prime UTR variant C/A;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1322648460
rs1322648460 		0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2011 2013
dbSNP: rs1322648460
rs1322648460 		0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1322648460
rs1322648460 		0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1322648460
rs1322648460 		0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1322648460
rs1322648460 		0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1322648460
rs1322648460 		0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1322648460
rs1322648460 		0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1322648460
rs1322648460 		0.776 0.320 11 35139332 frameshift variant G/- delins
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016