HRH4, histamine receptor H4, 59340

N. diseases: 48; 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: rs11662595
rs11662595 		0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs11662595
rs11662595 		0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11662595
rs11662595 		0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11662595
rs11662595 		0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs11662595
rs11662595 		0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2017 2017
dbSNP: rs11662595
rs11662595 		0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs11662595
rs11662595 		0.882 0.120 18 24477006 missense variant A/G snv 8.6E-02 7.6E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1421125
rs1421125 		0.925 0.080 18 24477947 3 prime UTR variant G/T snv 0.31
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1421125
rs1421125 		0.925 0.080 18 24477947 3 prime UTR variant G/T snv 0.31
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17187619
rs17187619 		1.000 18 24469616 intron variant T/C snv 0.21
CUI: C2747883
Disease: Infection induced asthma
Infection induced asthma 		0.010 1.000 1 2012 2012
dbSNP: rs17797945
rs17797945 		1.000 0.040 18 24466692 intron variant C/T snv 0.20
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4800573
rs4800573 		1.000 18 24479706 3 prime UTR variant G/A;T snv
CUI: C2747883
Disease: Infection induced asthma
Infection induced asthma 		0.010 1.000 1 2012 2012
dbSNP: rs615283
rs615283 		1.000 0.040 18 24460531 upstream gene variant G/A snv 0.14
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs623590
rs623590 		0.925 0.080 18 24463389 intron variant T/A;C snv 0.88
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs623590
rs623590 		0.925 0.080 18 24463389 intron variant T/A;C snv 0.88
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs657132
rs657132 		1.000 0.040 18 24473310 intron variant A/G;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs74604924
rs74604924 		1.000 0.120 18 24477515 stop gained A/T snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs77041280
rs77041280 		0.925 0.160 18 24477516 missense variant A/C;T snv
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs77041280
rs77041280 		0.925 0.160 18 24477516 missense variant A/C;T snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs77485247
rs77485247 		0.925 0.080 18 24460578 upstream gene variant T/A snv
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs77485247
rs77485247 		0.925 0.080 18 24460578 upstream gene variant T/A snv
CUI: C0042571
Disease: Vertigo
Vertigo 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs77485247
rs77485247 		0.925 0.080 18 24460578 upstream gene variant T/A snv
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		Otorhinolaryngologic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs8088140
rs8088140 		1.000 0.040 18 24469176 intron variant A/C snv 0.66
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015