Source: ALL

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: rs11068852
rs11068852
TCHP
12 109904616 intron variant T/A;G snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7312132
rs7312132
TCHP
12 109914704 non coding transcript exon variant G/C;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs9634314
rs9634314
GIT2 ; TCHP
12 109968581 intron variant G/A snv 0.20
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.700 1.000 1 2019 2019
dbSNP: rs200027650
rs200027650
TCHP
1.000 0.120 12 109904025 missense variant G/A snv 2.5E-04 1.4E-04
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.700 0
dbSNP: rs202208566
rs202208566
TCHP
1.000 0.080 12 109903156 missense variant T/C snv 6.5E-04 1.7E-04
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.700 0
dbSNP: rs370844769
rs370844769
TCHP
12 109903142 missense variant G/A snv 2.4E-05; 4.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017
dbSNP: rs770178049
rs770178049
TCHP
0.882 0.080 12 109912997 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2010 2010
dbSNP: rs770178049
rs770178049
TCHP
0.882 0.080 12 109912997 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2010 2010
dbSNP: rs770178049
rs770178049
TCHP
0.882 0.080 12 109912997 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2010 2010
dbSNP: rs770292690
rs770292690
TCHP
12 109908872 missense variant C/T snv 5.6E-05 9.8E-05
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.010 1.000 1 2016 2016
dbSNP: rs774352237
rs774352237
TCHP
0.882 0.080 12 109908873 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 1999 1999
dbSNP: rs774352237
rs774352237
TCHP
0.882 0.080 12 109908873 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 1999 1999
dbSNP: rs774352237
rs774352237
TCHP
0.882 0.080 12 109908873 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 1999 1999
dbSNP: rs774352237
rs774352237
TCHP
0.882 0.080 12 109908873 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2017 2017