PLG, plasminogen, 5340

N. diseases: 586; N. variants: 34
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: rs4252198
rs4252198 		6 160752696 intron variant C/G snv 1.0E-02
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs59614420
rs59614420 		6 160707981 non coding transcript exon variant G/A snv 0.30
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs9458010
rs9458010 		6 160704387 intron variant T/C snv 0.38
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2017 2017
dbSNP: rs3900809
rs3900809 		6 160714170 intron variant C/T snv 9.3E-02
CUI: C4280669
Disease: Velopharyngeal dysfunction
Velopharyngeal dysfunction 		0.700 1.000 1 2018 2018
dbSNP: rs4252129
rs4252129 		6 160731873 missense variant C/T snv 6.6E-03 7.6E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs537579467
rs537579467 		6 160734232 intron variant T/C snv 6.4E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs889957249
rs889957249 		1.000 0.160 6 160718730 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.720 1.000 2 2019 2019
dbSNP: rs73015965
rs73015965 		0.925 0.160 6 160706469 missense variant A/G snv 3.0E-03 2.8E-03
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases 0.800 1.000 1 2019 2019
dbSNP: rs764948729
rs764948729 		0.925 0.080 6 160731092 missense variant A/C snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs774229224
rs774229224 		0.882 0.160 6 160706454 missense variant C/A;G snv 4.0E-06; 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs753879928
rs753879928 		1.000 0.160 6 160718432 missense variant G/C snv 1.6E-05
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.010 1.000 1 2020 2020