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: rs121918028
rs121918028
1.000 0.120 6 160722431 missense variant G/T snv 8.0E-06
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 0.810 1.000 9 1982 2003
dbSNP: rs121918029
rs121918029
1.000 0.120 6 160736976 missense variant T/C snv
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 8 1982 1999
dbSNP: rs121918030
rs121918030
0.925 0.120 6 160716680 missense variant G/A snv
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 8 1982 1999
dbSNP: rs121918033
rs121918033
1.000 0.120 6 160752240 missense variant G/A snv 1.6E-05 7.0E-06
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 8 1982 1999
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: rs121918027
rs121918027
0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04
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 0.750 1.000 13 1982 2017
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: rs4252120
rs4252120
0.827 0.080 6 160722576 intron variant T/C;G snv 0.21
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.710 1.000 2 2013 2015
dbSNP: rs12529361
rs12529361
6 160704599 intron variant T/C snv 0.18
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement
0.700 1.000 1 2017 2017
dbSNP: rs147402310
rs147402310
6 160742498 intron variant T/G snv 2.4E-02
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: rs4252109
rs4252109
6 160716631 intron variant T/G snv 0.21 0.23
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement
0.700 1.000 1 2017 2017
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: rs4252134
rs4252134
0.925 0.160 6 160732495 intron variant T/C snv 0.21
CUI: C1956391
Disease: Temporal Arteritis
Temporal Arteritis
Skin and Connective Tissue Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4252185
rs4252185
1.000 0.040 6 160702419 intron variant T/C snv 5.7E-02
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement
0.700 1.000 1 2017 2017
dbSNP: rs4252185
rs4252185
1.000 0.040 6 160702419 intron variant T/C snv 5.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2015 2015
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: 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: 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: rs121918031
rs121918031
1.000 0.120 6 160738583 stop gained G/A;C snv 4.0E-06
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 0.700 0
dbSNP: rs121918032
rs121918032
1.000 0.120 6 160731229 stop gained G/A;T snv
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 0.700 0
dbSNP: rs121918034
rs121918034
1.000 0.120 6 160716663 inframe deletion GAA/- delins 7.0E-06
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 0.700 0
dbSNP: rs606231210
rs606231210
1.000 0.120 6 160741417 splice donor variant G/- delins
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 0.700 0
dbSNP: rs770198253
rs770198253
1.000 0.120 6 160713018 missense variant T/C;G snv 4.0E-06; 4.0E-06; 4.0E-06
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 0.700 0