CLPTM1L, CLPTM1 like, 81037

N. diseases: 110; N. variants: 20
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: rs381949
rs381949 		1.000 0.040 5 1322353 intron variant G/A snv 0.44
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		0.700 1.000 1 2018 2018
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0201544
Disease: Prostate specific antigen measurement
Prostate specific antigen measurement 		0.800 1.000 1 2010 2010
dbSNP: rs75630086
rs75630086 		5 1323611 intron variant G/C snv 4.3E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs75630086
rs75630086 		5 1323611 intron variant G/C snv 4.3E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs31489
rs31489 		0.763 0.320 5 1342599 intron variant C/A snv 0.41
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
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 2018 2018
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.040 1.000 4 2013 2017
dbSNP: rs402710
rs402710 		0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2013 2014
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2014 2017
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs451360
rs451360 		0.827 0.200 5 1319565 intron variant C/A;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs465498
rs465498 		0.776 0.200 5 1325688 non coding transcript exon variant A/G snv 0.46
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs465498
rs465498 		0.776 0.200 5 1325688 non coding transcript exon variant A/G snv 0.46
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs465498
rs465498 		0.776 0.200 5 1325688 non coding transcript exon variant A/G snv 0.46
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs465498
rs465498 		0.776 0.200 5 1325688 non coding transcript exon variant A/G snv 0.46
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs465498
rs465498 		0.776 0.200 5 1325688 non coding transcript exon variant A/G snv 0.46
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.740 1.000 7 2010 2018
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.740 1.000 5 2010 2015
dbSNP: rs31490
rs31490 		0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs381949
rs381949 		1.000 0.040 5 1322353 intron variant G/A snv 0.44
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 1.000 11 2009 2017
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.090 1.000 9 2009 2017
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.860 1.000 7 2010 2015