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: 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: rs421284
rs421284 		0.882 0.040 5 1325475 non coding transcript exon variant T/C;G snv
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 2 2016 2019
dbSNP: rs421284
rs421284 		0.882 0.040 5 1325475 non coding transcript exon variant T/C;G snv
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 2 2016 2019
dbSNP: rs421284
rs421284 		0.882 0.040 5 1325475 non coding transcript exon variant T/C;G snv
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 2 2016 2019
dbSNP: rs381949
rs381949 		1.000 0.040 5 1322353 intron variant G/A snv 0.44
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
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: 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: rs414965
rs414965 		1.000 0.040 5 1324006 non coding transcript exon variant G/A snv 0.42
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs893729101
rs893729101 		1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05
CUI: C3811653
Disease: Experimental Organism Basal Cell Carcinoma
Experimental Organism Basal Cell Carcinoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs893729101
rs893729101 		1.000 0.040 5 1341708 missense variant T/C snv 2.1E-05
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs10462706
rs10462706 		0.827 0.080 5 1343679 intron variant C/T snv 0.14
CUI: C0153407
Disease: Malignant neoplasm of other sites within the lip and oral cavity
Malignant neoplasm of other sites within the lip and oral cavity 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10462706
rs10462706 		0.827 0.080 5 1343679 intron variant C/T snv 0.14
CUI: C0496758
Disease: Malignant neoplasm of lateral floor of mouth
Malignant neoplasm of lateral floor of mouth 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10462706
rs10462706 		0.827 0.080 5 1343679 intron variant C/T snv 0.14
CUI: C0153369
Disease: Malignant neoplasm of anterior portion of floor of mouth
Malignant neoplasm of anterior portion of floor of mouth 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10462706
rs10462706 		0.827 0.080 5 1343679 intron variant C/T snv 0.14
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10462706
rs10462706 		0.827 0.080 5 1343679 intron variant C/T snv 0.14
CUI: C0153380
Disease: Malignant neoplasm of other specified parts of mouth
Malignant neoplasm of other specified parts of mouth 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs10462706
rs10462706 		0.827 0.080 5 1343679 intron variant C/T snv 0.14
CUI: C0153368
Disease: Malignant neoplasm of floor of mouth
Malignant neoplasm of floor of mouth 		Neoplasms; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs27070
rs27070 		1.000 0.120 5 1346188 non coding transcript exon variant G/C snv 0.50
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs452384
rs452384 		1.000 0.120 5 1330725 non coding transcript exon variant T/C snv 0.46
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs466502
rs466502 		1.000 0.120 5 1325652 non coding transcript exon variant A/G snv 0.46
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs31484
rs31484 		0.851 0.160 5 1337791 intron variant A/T snv 0.51
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs31484
rs31484 		0.851 0.160 5 1337791 intron variant A/T snv 0.51
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs31484
rs31484 		0.851 0.160 5 1337791 intron variant A/T snv 0.51
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		Neoplasms; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2010 2010
dbSNP: rs31484
rs31484 		0.851 0.160 5 1337791 intron variant A/T snv 0.51
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs421629
rs421629 		0.925 0.160 5 1320021 intron variant G/A snv 0.50
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017