HDAC9, histone deacetylase 9, 9734

N. diseases: 340; N. variants: 73
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: rs1004474938
rs1004474938 		1.000 0.120 7 18647924 missense variant A/G snv 8.1E-06 4.2E-05
CUI: C0017205
Disease: Gaucher Disease
Gaucher Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10248565
rs10248565 		1.000 0.040 7 18935100 intron variant T/G snv 0.14
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs10248565
rs10248565 		1.000 0.040 7 18935100 intron variant T/G snv 0.14
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs10248565
rs10248565 		1.000 0.040 7 18935100 intron variant T/G snv 0.14
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs10269422
rs10269422 		7 18814978 intron variant T/A snv 0.46
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1161136341
rs1161136341 		0.925 0.080 7 18591621 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs1161136341
rs1161136341 		0.925 0.080 7 18591621 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11984041
rs11984041 		0.925 0.080 7 18992312 intron variant C/T snv 0.13
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2015 2015
dbSNP: rs12155400
rs12155400 		7 18389298 intron variant A/G snv 2.9E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12155400
rs12155400 		7 18389298 intron variant A/G snv 2.9E-02
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1233806222
rs1233806222 		1.000 0.080 7 18585444 synonymous variant G/A snv 1.4E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12540872
rs12540872 		7 18797044 intron variant G/A;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1369210084
rs1369210084 		1.000 0.080 7 18647831 missense variant T/A snv
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2074633
rs2074633 		7 18996297 3 prime UTR variant T/A;C snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2240419
rs2240419 		0.925 0.200 7 18935566 intron variant T/A;C snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2240419
rs2240419 		0.925 0.200 7 18935566 intron variant T/A;C snv
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2240419
rs2240419 		0.925 0.200 7 18935566 intron variant T/A;C snv
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2389995
rs2389995 		0.925 0.200 7 18933395 intron variant A/G snv 6.0E-02
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2389995
rs2389995 		0.925 0.200 7 18933395 intron variant A/G snv 6.0E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs774238794
rs774238794 		0.925 0.080 7 18644690 missense variant G/A;T snv 4.1E-05; 4.1E-06
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs774238794
rs774238794 		0.925 0.080 7 18644690 missense variant G/A;T snv 4.1E-05; 4.1E-06
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs779782995
rs779782995 		0.925 0.040 7 18590438 missense variant A/G snv 1.7E-05
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs779782995
rs779782995 		0.925 0.040 7 18590438 missense variant A/G snv 1.7E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs79524815
rs79524815 		0.851 0.240 7 18658708 intron variant T/G snv 3.8E-02
CUI: C0333463
Disease: Senile Plaques
Senile Plaques 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs79524815
rs79524815 		0.851 0.240 7 18658708 intron variant T/G snv 3.8E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2018 2018