Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918028
rs121918028
PLG
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 		0.810 1.000 9 1982 2003
dbSNP: rs121918029
rs121918029
PLG
1.000 0.120 6 160736976 missense variant T/C snv
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		0.800 1.000 8 1982 1999
dbSNP: rs121918030
rs121918030
PLG
0.925 0.120 6 160716680 missense variant G/A snv
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		0.800 1.000 8 1982 1999
dbSNP: rs121918033
rs121918033
PLG
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 		0.800 1.000 8 1982 1999
dbSNP: rs73015965
rs73015965
PLG
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 		0.800 1.000 1 2019 2019
dbSNP: rs121918027
rs121918027
PLG
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 		0.750 1.000 13 1982 2017
dbSNP: rs889957249
rs889957249
PLG
1.000 0.160 6 160718730 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.720 1.000 2 2019 2019
dbSNP: rs4252120
rs4252120
PLG
0.827 0.080 6 160722576 intron variant T/C;G snv 0.21
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.710 1.000 2 2013 2015
dbSNP: rs12529361
rs12529361
PLG
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
PLG
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
PLG
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
PLG
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
PLG
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
PLG
0.925 0.160 6 160732495 intron variant T/C snv 0.21
CUI: C1956391
Disease: Temporal Arteritis
Temporal Arteritis 		0.700 1.000 1 2017 2017
dbSNP: rs4252185
rs4252185
PLG
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
PLG
1.000 0.040 6 160702419 intron variant T/C snv 5.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.700 1.000 1 2015 2015
dbSNP: rs4252198
rs4252198
PLG
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
PLG
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
PLG
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
PLG
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
PLG
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 		0.700 0
dbSNP: rs121918032
rs121918032
PLG
1.000 0.120 6 160731229 stop gained G/A;T snv
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		0.700 0
dbSNP: rs121918034
rs121918034
PLG
1.000 0.120 6 160716663 inframe deletion GAA/- delins 7.0E-06
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		0.700 0
dbSNP: rs606231210
rs606231210
PLG
1.000 0.120 6 160741417 splice donor variant G/- delins
CUI: C1968804
Disease: Plasminogen Deficiency, Type I
Plasminogen Deficiency, Type I 		0.700 0
dbSNP: rs770198253
rs770198253
PLG
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 		0.700 0