AHR, aryl hydrocarbon receptor, 196

N. diseases: 532; N. variants: 20
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: rs1525735
rs1525735 		0.827 0.120 7 17157947 intron variant C/T snv 0.49
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1525735
rs1525735 		0.827 0.120 7 17157947 intron variant C/T snv 0.49
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12670403
rs12670403 		7 17269655 intron variant C/A snv 0.46
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs12670403
rs12670403 		7 17269655 intron variant C/A snv 0.46
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs866423
rs866423 		7 16975532 intron variant C/T snv 0.43
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1636744
rs1636744 		0.851 0.080 7 16944656 intron variant C/T snv 0.31
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2018
dbSNP: rs1636744
rs1636744 		0.851 0.080 7 16944656 intron variant C/T snv 0.31
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2018
dbSNP: rs1636744
rs1636744 		0.851 0.080 7 16944656 intron variant C/T snv 0.31
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 2 2015 2018
dbSNP: rs1636744
rs1636744 		0.851 0.080 7 16944656 intron variant C/T snv 0.31
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3944100
rs3944100 		1.000 0.080 7 17014722 intron variant T/C snv 0.30
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2282885
rs2282885 		7 17305990 intron variant A/G snv 0.27
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs581037
rs581037 		7 17050319 intron variant C/T snv 0.26
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.250 4 2005 2015
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.040 0.750 4 2004 2019
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 0.250 4 2005 2015
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2009 2018
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2009 2018
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2009 2018
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0001206
Disease: Acromegaly
Acromegaly 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2019
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.020 1.000 2 2018 2019
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 0.500 2 2013 2018
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 0.500 2 2013 2018
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C0009376
Disease: Colonic Polyps
Colonic Polyps 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C3839047
Disease: Severe dry skin
Severe dry skin 		0.010 1.000 1 2019 2019
dbSNP: rs2066853
rs2066853 		0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22
CUI: C4551492
Disease: Micropenis
Micropenis 		0.010 1.000 1 2005 2005