HDAC7, histone deacetylase 7, 51564

N. diseases: 77; 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: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing
Digestive System Diseases 0.700 1.000 2 2013 2016
dbSNP: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis
Digestive System Diseases 0.700 1.000 2 2011 2013
dbSNP: rs73107980
rs73107980
1.000 0.040 12 47793818 intron variant C/G;T snv
CUI: C0042345
Disease: Varicosity
Varicosity
Cardiovascular Diseases 0.700 1.000 2 2018 2019
dbSNP: rs11168244
rs11168244
12 47809158 intron variant C/A;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2017 2017
dbSNP: rs11168244
rs11168244
12 47809158 intron variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2017 2017
dbSNP: rs11168245
rs11168245
1.000 0.040 12 47810716 intron variant C/G snv 0.16
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
0.700 1.000 1 2019 2019
dbSNP: rs11168245
rs11168245
1.000 0.040 12 47810716 intron variant C/G snv 0.16
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11168249
rs11168249
0.807 0.120 12 47814585 intron variant T/C snv 0.50
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis
Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1557848
rs1557848
12 47787591 intron variant A/G snv 0.19
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs2544026
rs2544026
0.925 0.080 12 47792780 non coding transcript exon variant T/A snv 0.19
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2544026
rs2544026
0.925 0.080 12 47792780 non coding transcript exon variant T/A snv 0.19
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma
0.700 1.000 1 2019 2019
dbSNP: rs55726902
rs55726902
12 47803199 intron variant G/A snv 0.16
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs56389811
rs56389811
1.000 12 47811575 intron variant C/A;T snv
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma
0.700 1.000 1 2019 2019
dbSNP: rs73109811
rs73109811
12 47818936 intron variant C/T snv 0.13
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs7972177
rs7972177
12 47784730 missense variant A/G snv 0.28 0.33
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs1165948169
rs1165948169
1.000 0.080 12 47798799 missense variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs2544038
rs2544038
0.925 0.080 12 47821450 intron variant T/C snv 0.41
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2544038
rs2544038
0.925 0.080 12 47821450 intron variant T/C snv 0.41
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012