UBAC2, UBA domain containing 2, 337867

N. diseases: 97; N. variants: 16
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: rs9557195
rs9557195 		13 99304368 intron variant T/C snv 0.16
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 2 2012 2017
dbSNP: rs1887704
rs1887704 		0.925 0.080 13 99322238 intron variant C/G snv 0.55
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs1887704
rs1887704 		0.925 0.080 13 99322238 intron variant C/G snv 0.55
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1927729
rs1927729 		0.882 0.040 13 99303544 intron variant A/G snv 0.17
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs1927729
rs1927729 		0.882 0.040 13 99303544 intron variant A/G snv 0.17
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs1927729
rs1927729 		0.882 0.040 13 99303544 intron variant A/G snv 0.17
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2182885
rs2182885 		13 99202870 intron variant G/A snv 0.46
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2182885
rs2182885 		13 99202870 intron variant G/A snv 0.46
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs3742130
rs3742130 		0.925 0.040 13 99255087 synonymous variant G/A snv 0.16 0.16
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3742130
rs3742130 		0.925 0.040 13 99255087 synonymous variant G/A snv 0.16 0.16
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3742130
rs3742130 		0.925 0.040 13 99255087 synonymous variant G/A snv 0.16 0.16
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs59186511
rs59186511 		1.000 0.080 13 99333984 intron variant C/T snv 0.13
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7332672
rs7332672 		13 99225217 intron variant C/T snv 0.46
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs912131
rs912131 		13 99380092 intron variant A/G snv 0.57
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs912131
rs912131 		13 99380092 intron variant A/G snv 0.57
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs9513593
rs9513593 		1.000 0.040 13 99298006 intron variant G/A snv 0.71
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs9557207
rs9557207 		13 99384164 intron variant A/G snv 0.17
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs9557207
rs9557207 		13 99384164 intron variant A/G snv 0.17
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1466524306
rs1466524306 		1.000 0.040 13 99295133 missense variant G/A snv 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 0
dbSNP: rs727263
rs727263 		1.000 0.080 13 99351854 intron variant G/A;T snv 0.17; 7.9E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7999348
rs7999348 		1.000 0.200 13 99280668 intron variant G/A;C snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9513584
rs9513584 		1.000 0.200 13 99224027 intron variant G/A snv 0.57
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs9517668
rs9517668 		1.000 0.200 13 99271586 intron variant T/A snv 0.80
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs9517701
rs9517701 		1.000 0.200 13 99377286 3 prime UTR variant A/G snv 0.13
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012