ANO10, anoctamin 10, 55129

N. diseases: 62; N. variants: 17
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: rs104893676
rs104893676 		1.000 0.200 3 43691011 missense variant G/A snv 1.3E-04 8.5E-04
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 2001 2008
dbSNP: rs387907089
rs387907089 		1.000 3 43555417 missense variant A/C snv 4.0E-06
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.800 1.000 1 2010 2010
dbSNP: rs17473118
rs17473118 		3 43402042 intron variant G/A;C snv
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs41289586
rs41289586 		0.882 0.160 3 43577066 missense variant C/T snv 1.8E-02 1.9E-02
CUI: C2213246
Disease: Non-Hodgkin's lymphoma of central nervous system
Non-Hodgkin's lymphoma of central nervous system 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs74652506
rs74652506 		1.000 0.040 3 43402386 intron variant C/T snv 9.7E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		Digestive System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7650267
rs7650267 		3 43426403 intron variant T/C snv 0.15
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs1210764379
rs1210764379 		1.000 3 43600415 stop gained G/A;T snv
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs138000380
rs138000380 		1.000 3 43432682 missense variant C/T snv 4.1E-04 3.4E-04
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs144272231
rs144272231 		1.000 3 43576710 stop gained C/A;T snv 4.0E-05
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs387906336
rs387906336 		1.000 0.200 3 43691033 frameshift variant AG/- delins
CUI: C0268238
Disease: Triglyceride storage disease with ichthyosis
Triglyceride storage disease with ichthyosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs540331226
rs540331226 		1.000 3 43605721 frameshift variant T/-;TT delins
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs758937084
rs758937084 		1.000 3 43605757 frameshift variant T/- delins 7.2E-05 8.4E-05
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs761213683
rs761213683 		1.000 3 43561219 splice donor variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs765592794
rs765592794 		1.000 3 43600383 splice donor variant C/T snv 4.8E-05 2.8E-05
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs794726680
rs794726680 		1.000 3 43576703 frameshift variant AA/- delins
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs794726681
rs794726681 		1.000 3 43555342 frameshift variant A/- delins 7.0E-06
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs797045240
rs797045240 		1.000 3 43549850 splice acceptor variant T/A;C snv 4.0E-06
CUI: C3150998
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 		0.700 0
dbSNP: rs41289586
rs41289586 		0.882 0.160 3 43577066 missense variant C/T snv 1.8E-02 1.9E-02
CUI: C0024198
Disease: Lyme Disease
Lyme Disease 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs41289586
rs41289586 		0.882 0.160 3 43577066 missense variant C/T snv 1.8E-02 1.9E-02
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019