HTRA2, HtrA serine peptidase 2, 27429

N. diseases: 151; N. variants: 6
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: rs767006508
rs767006508 		1.000 2 74532714 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		0.700 1.000 2 2016 2017
dbSNP: rs1380794702
rs1380794702 		1.000 2 74532713 missense variant C/T snv 4.0E-06
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387906942
rs387906942 		0.925 0.040 2 74530433 missense variant C/G;T snv 4.3E-06; 4.3E-06
CUI: C1853202
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs72470545
rs72470545 		0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.060 1.000 6 2011 2018
dbSNP: rs72470544
rs72470544 		0.925 0.080 2 74530427 missense variant G/T snv 1.9E-02 1.7E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2005 2011
dbSNP: rs72470545
rs72470545 		0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03
CUI: C0393615
Disease: Familial Tremor
Familial Tremor 		Nervous System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs72470545
rs72470545 		0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.020 1.000 2 2018 2018
dbSNP: rs72470545
rs72470545 		0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03
CUI: C0270736
Disease: Essential Tremor
Essential Tremor 		Nervous System Diseases 0.020 1.000 2 2014 2017
dbSNP: rs387906942
rs387906942 		0.925 0.040 2 74530433 missense variant C/G;T snv 4.3E-06; 4.3E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs72470544
rs72470544 		0.925 0.080 2 74530427 missense variant G/T snv 1.9E-02 1.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs72470545
rs72470545 		0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.010 1.000 1 2016 2016
dbSNP: rs72470545
rs72470545 		0.807 0.280 2 74532698 missense variant G/A snv 4.0E-03 2.5E-03
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs765943892
rs765943892 		1.000 0.040 2 74530112 missense variant C/T snv 1.6E-04 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2014 2014