EPHB2, EPH receptor B2, 2048

N. diseases: 649; N. variants: 19
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: rs6687487
rs6687487 		1 22735058 intron variant G/A snv 8.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs138551214
rs138551214 		0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs144045260
rs144045260 		1 22728227 intron variant GAAT/-;GAATGAAT delins 8.1E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2043970
rs2043970 		1 22735465 intron variant A/C snv 8.2E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs28455953
rs28455953 		1 22734458 intron variant A/G;T snv 8.5E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs67142165
rs67142165 		1 22884066 intron variant C/T snv 8.2E-02
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs67142165
rs67142165 		1 22884066 intron variant C/T snv 8.2E-02
CUI: C0428419
Disease: Triiodothyronine measurement
Triiodothyronine measurement 		0.700 1.000 1 2019 2019
dbSNP: rs121912582
rs121912582 		1.000 1 22907980 stop gained C/T snv
CUI: C1863600
Disease: PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding)
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding) 		0.700 0
dbSNP: rs142173175
rs142173175 		1.000 0.080 1 22906770 missense variant T/C snv 1.2E-03 4.7E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs201754821
rs201754821 		1.000 0.080 1 22784861 missense variant G/A snv 8.8E-05 3.5E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs35882952
rs35882952 		1.000 0.080 1 22863060 missense variant G/C;T snv 4.0E-06; 1.1E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs372653137
rs372653137 		1.000 0.080 1 22910526 missense variant A/G snv 4.0E-05 1.8E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 0
dbSNP: rs76826147
rs76826147 		0.882 0.080 1 22913757 stop gained A/G;T snv 4.2E-06; 2.9E-03
CUI: C1863600
Disease: PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding)
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY (finding) 		0.700 0
dbSNP: rs772092699
rs772092699 		0.925 0.080 1 22912497 missense variant C/A;G;T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.070 1.000 7 2012 2020
dbSNP: rs1018379423
rs1018379423 		1 22907986 missense variant G/T snv 4.0E-06 2.1E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1018379423
rs1018379423 		1 22907986 missense variant G/T snv 4.0E-06 2.1E-05
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1018379423
rs1018379423 		1 22907986 missense variant G/T snv 4.0E-06 2.1E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1018379423
rs1018379423 		1 22907986 missense variant G/T snv 4.0E-06 2.1E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1249080185
rs1249080185 		0.882 0.080 1 22784698 missense variant G/A snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1249080185
rs1249080185 		0.882 0.080 1 22784698 missense variant G/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1249080185
rs1249080185 		0.882 0.080 1 22784698 missense variant G/A snv
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1330586270
rs1330586270 		0.925 0.080 1 22882367 missense variant G/A snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2008 2008
dbSNP: rs1330586270
rs1330586270 		0.925 0.080 1 22882367 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs138551214
rs138551214 		0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs138551214
rs138551214 		0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2008 2008