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: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 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: 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: 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: 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: rs31489
rs31489 		0.763 0.320 5 1342599 intron variant C/A snv 0.41
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: rs31490
rs31490 		0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06
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: rs380286
rs380286 		0.776 0.200 5 1320132 intron variant G/A snv 0.47
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: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
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: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2010 2010
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: rs402710
rs402710 		0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs402710
rs402710 		0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs421629
rs421629 		0.925 0.160 5 1320021 intron variant G/A 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: rs451360
rs451360 		0.827 0.200 5 1319565 intron variant C/A;T snv
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: rs452932
rs452932 		0.925 0.160 5 1330138 intron 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: rs465498
rs465498 		0.776 0.200 5 1325688 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: 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: rs467095
rs467095 		0.925 0.160 5 1336106 intron variant T/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: rs31489
rs31489 		0.763 0.320 5 1342599 intron variant C/A snv 0.41
CUI: C0221725
Disease: Bronchial Obstruction
Bronchial Obstruction 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs31489
rs31489 		0.763 0.320 5 1342599 intron variant C/A snv 0.41
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs402710
rs402710 		0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011