EPHA4, EPH receptor A4, 2043

N. diseases: 118; N. variants: 12
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: rs1430213
rs1430213 		1.000 0.040 2 221467948 intron variant G/A snv 0.20
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1430214
rs1430214 		1.000 0.040 2 221466961 intron variant A/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17379786
rs17379786 		1.000 0.040 2 221468776 intron variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3770150
rs3770150 		1.000 0.040 2 221474691 intron variant T/C snv 0.54
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3770154
rs3770154 		1.000 0.040 2 221473195 intron variant G/T snv 0.17
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3770155
rs3770155 		1.000 0.040 2 221473090 intron variant C/A;T snv 0.60
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3821025
rs3821025 		1.000 0.040 2 221473870 intron variant A/T snv 0.17
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs975194
rs975194 		1.000 0.040 2 221472906 intron variant G/A snv 0.75
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs756952113
rs756952113 		1.000 0.120 2 221482561 missense variant C/T snv 4.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs868224085
rs868224085 		1.000 0.040 2 221482474 missense variant G/A snv
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		Neoplasms 0.700 0
dbSNP: rs1307751766
rs1307751766 		0.925 0.080 2 221564258 missense variant A/G snv 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1307751766
rs1307751766 		0.925 0.080 2 221564258 missense variant A/G snv 7.0E-06
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs75843691
rs75843691 		1.000 0.080 2 221530901 intron variant C/A;G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs75843691
rs75843691 		1.000 0.080 2 221530901 intron variant C/A;G;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019