ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
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: rs724159945
rs724159945 		1.000 12 11885968 missense variant C/A;T snv
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		0.800 0
dbSNP: rs724159946
rs724159946 		1.000 12 11884541 missense variant G/A snv 7.0E-06
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		0.800 0
dbSNP: rs724159947
rs724159947 		0.851 0.120 12 11869601 missense variant C/T snv
CUI: C4015537
Disease: THROMBOCYTOPENIA 5
THROMBOCYTOPENIA 5 		0.800 0
dbSNP: rs724159947
rs724159947 		0.851 0.120 12 11869601 missense variant C/T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.710 1.000 2 2015 2015
dbSNP: rs2238126
rs2238126 		0.776 0.080 12 11856807 intron variant A/G snv 0.18
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.710 1.000 1 2016 2016
dbSNP: rs786205155
rs786205155 		0.882 0.120 12 11884481 missense variant T/C snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.710 1.000 1 2015 2015
dbSNP: rs786205155
rs786205155 		0.882 0.120 12 11884481 missense variant T/C snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.710 1.000 1 2015 2015
dbSNP: rs2856321
rs2856321 		12 11702839 intron variant G/A snv 0.52
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2010 2014
dbSNP: rs2856321
rs2856321 		12 11702839 intron variant G/A snv 0.52
CUI: C0489786
Disease: Height
Height 		0.700 1.000 2 2010 2013
dbSNP: rs145477191
rs145477191 		12 11869562 missense variant T/C snv 4.9E-03; 8.0E-06 4.9E-03
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs146216907
rs146216907 		12 11738231 intron variant CTCCTTCC/-;CTCCTTCCCTCCTTCC delins 0.32
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs2238126
rs2238126 		0.776 0.080 12 11856807 intron variant A/G snv 0.18
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2238126
rs2238126 		0.776 0.080 12 11856807 intron variant A/G snv 0.18
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2016 2016
dbSNP: rs2238126
rs2238126 		0.776 0.080 12 11856807 intron variant A/G snv 0.18
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2016 2016
dbSNP: rs2238126
rs2238126 		0.776 0.080 12 11856807 intron variant A/G snv 0.18
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2016 2016
dbSNP: rs2238126
rs2238126 		0.776 0.080 12 11856807 intron variant A/G snv 0.18
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2238126
rs2238126 		0.776 0.080 12 11856807 intron variant A/G snv 0.18
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2016 2016
dbSNP: rs2238126
rs2238126 		0.776 0.080 12 11856807 intron variant A/G snv 0.18
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2238126
rs2238126 		0.776 0.080 12 11856807 intron variant A/G snv 0.18
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2541138
rs2541138 		12 11648004 upstream gene variant T/A;C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2724616
rs2724616 		12 11717834 intron variant A/G snv 0.64
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2900208
rs2900208 		12 11725530 intron variant C/A snv 0.29
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs2900208
rs2900208 		12 11725530 intron variant C/A snv 0.29
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs724159945
rs724159945 		1.000 12 11885968 missense variant C/A;T snv
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs724159945
rs724159945 		1.000 12 11885968 missense variant C/A;T snv
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015