EPHB1, EPH receptor B1, 2047

N. diseases: 169; N. variants: 17
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: rs1085307110
rs1085307110 		0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1085307110
rs1085307110 		0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1085307110
rs1085307110 		0.925 0.120 3 134650909 frameshift variant -/ATGTCGATAGATACAGCACATGTCGATA ins
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs10935143
rs10935143 		3 134946317 intron variant G/A snv 0.49
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs114807680
rs114807680 		1.000 0.040 3 135085649 intron variant G/A snv 9.8E-03
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2018 2018
dbSNP: rs11918092
rs11918092 		0.925 0.120 3 134794514 intron variant C/A snv 0.74
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs16842236
rs16842236 		1.000 0.080 3 134900800 intron variant A/G snv 0.15
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2009 2009
dbSNP: rs183252871
rs183252871 		3 134964503 intron variant T/C;G snv
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 1 2017 2017
dbSNP: rs183252871
rs183252871 		3 134964503 intron variant T/C;G snv
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		0.700 1.000 1 2017 2017
dbSNP: rs187472012
rs187472012 		3 134820915 intron variant A/G snv 2.7E-04
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		0.700 1.000 1 2017 2017
dbSNP: rs187472012
rs187472012 		3 134820915 intron variant A/G snv 2.7E-04
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 1 2017 2017
dbSNP: rs62270313
rs62270313 		1.000 0.040 3 134930924 intron variant T/C snv 0.16
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs62270313
rs62270313 		1.000 0.040 3 134930924 intron variant T/C snv 0.16
CUI: C0423791
Disease: Maculopapular Lesion
Maculopapular Lesion 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs6775611
rs6775611 		3 134640105 intron variant C/T snv 0.33
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs775009958
rs775009958 		3 134710087 intron variant C/T snv 2.9E-04
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2017 2017
dbSNP: rs9851441
rs9851441 		3 134596249 upstream gene variant C/A snv 0.64
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1338928289
rs1338928289 		1.000 0.080 3 135201571 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs377332009
rs377332009 		1.000 3 134625131 stop gained G/A;T snv 1.4E-05
CUI: C4310711
Disease: MYOPATHY, MYOFIBRILLAR, 7
MYOPATHY, MYOFIBRILLAR, 7 		0.700 0
dbSNP: rs886037917
rs886037917 		1.000 3 134608668 frameshift variant C/- del
CUI: C4310711
Disease: MYOPATHY, MYOFIBRILLAR, 7
MYOPATHY, MYOFIBRILLAR, 7 		0.700 0
dbSNP: rs11918092
rs11918092 		0.925 0.120 3 134794514 intron variant C/A snv 0.74
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs2030737
rs2030737 		1.000 0.040 3 135090535 intron variant C/T snv 0.44
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs6766459
rs6766459 		1.000 0.080 3 135197201 intron variant G/T snv 0.69
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs966513
rs966513 		1.000 0.080 3 135147609 intron variant C/G;T snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System Diseases 0.010 1.000 1 2015 2015