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: rs3215401
rs3215401
TERT
1.000 0.080 5 1296140 upstream gene variant -/G delins 0.25
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 1.000 2 2017 2017
dbSNP: rs35226131
rs35226131
TERT
1.000 0.120 5 1295258 upstream gene variant C/T snv 2.6E-02
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 1.000 2 2016 2018
dbSNP: rs4449583
rs4449583
TERT
5 1284020 intron variant C/T snv 0.25
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 2 2016 2018
dbSNP: rs4449583
rs4449583
TERT
5 1284020 intron variant C/T snv 0.25
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 2 2016 2018
dbSNP: rs7705526
rs7705526
TERT
0.776 0.240 5 1285859 intron variant C/A;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs7705526
rs7705526
TERT
0.776 0.240 5 1285859 intron variant C/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 2 2017 2019
dbSNP: rs7725218
rs7725218
TERT
0.708 0.280 5 1282299 intron variant G/A snv 0.38
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.700 1.000 2 2015 2016
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.800 1.000 1 2013 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		0.700 1.000 1 2018 2018
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.720 1.000 1 2016 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.700 1.000 1 2015 2015
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms 		0.700 1.000 1 2014 2014
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.700 1.000 1 2019 2019
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		0.700 1.000 1 2018 2018
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.710 1.000 1 2016 2017
dbSNP: rs10069690
rs10069690
TERT
0.595 0.560 5 1279675 intron variant C/T snv 0.36
CUI: C1335177
Disease: Ovarian Serous Adenocarcinoma
Ovarian Serous Adenocarcinoma 		0.700 1.000 1 2017 2017
dbSNP: rs13167280
rs13167280
TERT
1.000 0.080 5 1280362 intron variant G/A snv 0.13 0.11
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.700 1.000 1 2019 2019
dbSNP: rs139996880
rs139996880
TERT
0.882 0.120 5 1284538 intron variant G/A snv 0.12
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2016 2016
dbSNP: rs139996880
rs139996880
TERT
0.882 0.120 5 1284538 intron variant G/A snv 0.12
CUI: C0025202
Disease: melanoma
melanoma 		0.700 1.000 1 2017 2017
dbSNP: rs139996880
rs139996880
TERT
0.882 0.120 5 1284538 intron variant G/A snv 0.12
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.700 1.000 1 2016 2016
dbSNP: rs2242652
rs2242652
TERT
0.724 0.400 5 1279913 intron variant G/A snv 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.710 1.000 1 2013 2016
dbSNP: rs2735940
rs2735940
TERT
0.689 0.400 5 1296371 upstream gene variant A/G snv 0.49
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.700 1.000 1 2019 2019
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2010 2010
dbSNP: rs2736100
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		0.840 1.000 1 2008 2019