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: 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: 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: 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
dbSNP: rs79524815
rs79524815
0.851 0.240 7 18658708 intron variant T/G snv 3.8E-02
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 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: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy
Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2285440
rs2285440
7 18659038 intron variant T/G snv 0.15
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs801525
rs801525
1.000 0.080 7 18670765 intron variant G/A;T snv
CUI: C0002170
Disease: Alopecia
Alopecia
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1178099
rs1178099
7 18695624 intron variant T/C;G snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs1178121
rs1178121
0.882 0.120 7 18723029 intron variant C/A snv 0.31
Systemic onset juvenile chronic arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1178121
rs1178121
0.882 0.120 7 18723029 intron variant C/A snv 0.31
Rheumatoid Arthritis, Systemic Juvenile
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1178121
rs1178121
0.882 0.120 7 18723029 intron variant C/A snv 0.31
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs540671238
rs540671238
7 18732931 intron variant A/G;T snv
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
0.700 1.000 1 2019 2019
dbSNP: rs727851
rs727851
7 18747194 intron variant G/T snv 0.23
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
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: 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: rs56349397
rs56349397
1.000 0.080 7 18825739 intron variant A/C snv 0.28
CUI: C0002170
Disease: Alopecia
Alopecia
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3852256
rs3852256
1.000 0.080 7 18827221 intron variant A/G;T snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs17349860
rs17349860
1.000 0.080 7 18828408 intron variant C/T snv 0.32
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3852257
rs3852257
1.000 0.080 7 18832069 intron variant C/G;T snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2016515
rs2016515
1.000 0.080 7 18834762 intron variant T/A;G snv
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13238389
rs13238389
1.000 0.080 7 18837276 intron variant C/A snv 0.39
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs957960
rs957960
1.000 0.080 7 18837785 intron variant C/A snv 0.42
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs957958
rs957958
1.000 0.080 7 18837993 intron variant A/G snv 0.41
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2073963
rs2073963
0.807 0.080 7 18838251 intron variant T/G snv 0.43
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.800 1.000 1 2012 2012