Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs421284
rs421284
CLPTM1L
0.882 0.040 5 1325475 non coding transcript exon variant T/C;G snv
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 2 2016 2019
dbSNP: rs421284
rs421284
CLPTM1L
0.882 0.040 5 1325475 non coding transcript exon variant T/C;G snv
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 2 2016 2019
dbSNP: rs421284
rs421284
CLPTM1L
0.882 0.040 5 1325475 non coding transcript exon variant T/C;G snv
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 2 2016 2019
dbSNP: rs452932
rs452932
CLPTM1L
0.925 0.160 5 1330138 intron variant T/C snv 0.46
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.700 1.000 1 2017 2017
dbSNP: rs467095
rs467095
CLPTM1L
0.925 0.160 5 1336106 intron variant T/C snv 0.50
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2017 2017
dbSNP: rs75630086
rs75630086
CLPTM1L
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
CLPTM1L
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: rs31490
rs31490
CLPTM1L
0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.800 1.000 1 2014 2014
dbSNP: rs31490
rs31490
CLPTM1L
0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2014 2014
dbSNP: rs31490
rs31490
CLPTM1L
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 		0.700 1.000 1 2014 2014
dbSNP: rs380286
rs380286
CLPTM1L
0.776 0.200 5 1320132 intron variant G/A snv 0.47
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.710 1.000 2 2014 2019
dbSNP: rs380286
rs380286
CLPTM1L
0.776 0.200 5 1320132 intron variant G/A snv 0.47
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		0.700 1.000 1 2018 2018
dbSNP: rs380286
rs380286
CLPTM1L
0.776 0.200 5 1320132 intron variant G/A snv 0.47
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2019 2019
dbSNP: rs380286
rs380286
CLPTM1L
0.776 0.200 5 1320132 intron variant G/A snv 0.47
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		0.700 1.000 1 2018 2018
dbSNP: rs380286
rs380286
CLPTM1L
0.776 0.200 5 1320132 intron variant G/A snv 0.47
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2018 2018
dbSNP: rs381949
rs381949
CLPTM1L
1.000 0.040 5 1322353 intron variant G/A snv 0.44
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		0.700 1.000 1 2018 2018
dbSNP: rs381949
rs381949
CLPTM1L
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: rs381949
rs381949
CLPTM1L
1.000 0.040 5 1322353 intron variant G/A snv 0.44
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.700 1.000 1 2018 2018
dbSNP: rs421629
rs421629
CLPTM1L
0.925 0.160 5 1320021 intron variant G/A snv 0.50
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.700 1.000 1 2017 2017
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.740 1.000 3 2010 2018
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		0.700 1.000 3 2009 2015
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		0.700 1.000 3 2009 2015
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		0.700 1.000 3 2009 2015
dbSNP: rs401681
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.710 0.667 2 2010 2014
dbSNP: rs10462706
rs10462706
CLPTM1L
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 		0.700 1.000 1 2016 2016