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: rs10249788
rs10249788 		0.827 0.160 7 17298523 intron variant C/G;T snv
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10249788
rs10249788 		0.827 0.160 7 17298523 intron variant C/G;T snv
CUI: C3839047
Disease: Severe dry skin
Severe dry skin 		0.010 1.000 1 2019 2019
dbSNP: rs10249788
rs10249788 		0.827 0.160 7 17298523 intron variant C/G;T snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10249788
rs10249788 		0.827 0.160 7 17298523 intron variant C/G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs10249788
rs10249788 		0.827 0.160 7 17298523 intron variant C/G;T snv
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10249788
rs10249788 		0.827 0.160 7 17298523 intron variant C/G;T snv
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs117132860
rs117132860 		1.000 0.080 7 17095084 intron variant G/A;C;T snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3757824
rs3757824 		0.882 0.160 7 17296411 non coding transcript exon variant T/C;G snv
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3757824
rs3757824 		0.882 0.160 7 17296411 non coding transcript exon variant T/C;G snv
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3757824
rs3757824 		0.882 0.160 7 17296411 non coding transcript exon variant T/C;G snv
CUI: C0848558
Disease: Hypospadias
Hypospadias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6968554
rs6968554 		7 17247482 5 prime UTR variant A/G;T snv
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs6968554
rs6968554 		7 17247482 5 prime UTR variant A/G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs4986826
rs4986826 		0.882 0.120 7 17339533 missense variant G/A snv 7.8E-03 2.2E-02
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2002 2002
dbSNP: rs4986826
rs4986826 		0.882 0.120 7 17339533 missense variant G/A snv 7.8E-03 2.2E-02
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2002 2002
dbSNP: rs4986826
rs4986826 		0.882 0.120 7 17339533 missense variant G/A snv 7.8E-03 2.2E-02
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1721043
rs1721043 		7 17030613 intron variant T/C snv 7.6E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs10252701
rs10252701 		7 17240889 intron variant A/C snv 0.13
CUI: C0236734
Disease: Caffeine related disorders
Caffeine related disorders 		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: 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