PLAT, plasminogen activator, tissue type, 5327

N. diseases: 392; N. variants: 7
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: rs1804182
rs1804182 		1.000 0.080 8 42176001 stop gained G/A snv 1.5E-03 6.2E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs777692567
rs777692567 		0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2002 2005
dbSNP: rs367827951
rs367827951 		8 42182000 missense variant G/A;C snv 4.0E-06; 2.8E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2014 2014
dbSNP: rs63020761
rs63020761 		8 42186171 non coding transcript exon variant T/A;G snv
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs751671151
rs751671151 		8 42180286 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs777692567
rs777692567 		0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C2609046
Disease: Sticky platelet syndrome
Sticky platelet syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs777692567
rs777692567 		0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs777692567
rs777692567 		0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs777692567
rs777692567 		0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.010 1.000 1 2005 2005
dbSNP: rs8178750
rs8178750 		1.000 0.080 8 42187353 non coding transcript exon variant G/A snv 0.15 0.18
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs8178895
rs8178895 		1.000 0.040 8 42174861 3 prime UTR variant T/C snv 0.10
CUI: C2938940
Disease: Post stroke depression
Post stroke depression 		Mental Disorders 0.010 1.000 1 2018 2018