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: 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: 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: 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: rs772092699
rs772092699 		0.925 0.080 1 22912497 missense variant C/A;G;T snv 4.0E-06
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.010 1.000 1 2019 2019
dbSNP: rs772092699
rs772092699 		0.925 0.080 1 22912497 missense variant C/A;G;T snv 4.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2016 2016
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: 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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 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
dbSNP: rs138551214
rs138551214 		0.925 0.080 1 22909025 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs759404153
rs759404153 		1.000 0.040 1 22910452 missense variant T/A;G snv 2.8E-05; 4.0E-06
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs759404153
rs759404153 		1.000 0.040 1 22910452 missense variant T/A;G snv 2.8E-05; 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2019 2019