HDC, histidine decarboxylase, 3067

N. diseases: 92; N. variants: 7
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: rs267606861
rs267606861 		1.000 0.120 15 50252520 stop gained C/T snv
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.710 1.000 1 2012 2012
dbSNP: rs1353958864
rs1353958864 		1.000 0.080 15 50252709 missense variant C/T snv 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs139287451
rs139287451 		1.000 0.080 15 50263346 synonymous variant C/T snv 5.2E-05 4.2E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17740607
rs17740607 		0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17740607
rs17740607 		0.925 0.160 15 50263347 missense variant G/A;C snv 8.5E-02; 4.0E-06
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2073440
rs2073440 		0.851 0.200 15 50242317 missense variant T/G snv 3.4E-02 5.9E-02
CUI: C0035455
Disease: Rhinitis
Rhinitis 		Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2073440
rs2073440 		0.851 0.200 15 50242317 missense variant T/G snv 3.4E-02 5.9E-02
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2073440
rs2073440 		0.851 0.200 15 50242317 missense variant T/G snv 3.4E-02 5.9E-02
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2073440
rs2073440 		0.851 0.200 15 50242317 missense variant T/G snv 3.4E-02 5.9E-02
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7164386
rs7164386 		0.925 0.080 15 50244155 intron variant C/T snv 4.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7164386
rs7164386 		0.925 0.080 15 50244155 intron variant C/T snv 4.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7182203
rs7182203 		0.925 0.080 15 50260803 intron variant G/A snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs7182203
rs7182203 		0.925 0.080 15 50260803 intron variant G/A snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014