Source: CURATED

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: rs1194865614
rs1194865614
SERPINE1
1.000 0.040 7 101132065 splice donor variant -/TA delins 4.0E-06
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		0.700 1.000 1 1992 1992
dbSNP: rs1554362148
rs1554362148
SERPINE1
1.000 0.040 7 101130504 frameshift variant -/C delins
CUI: C2750067
Disease: Plasminogen Activator Inhibitor-1 Deficiency
Plasminogen Activator Inhibitor-1 Deficiency 		0.700 1.000 1 2011 2011
dbSNP: rs2227700
rs2227700
SERPINE1
7 101138800 3 prime UTR variant T/C snv 1.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3020623
rs3020623
SERPINE1
7 101129564 intron variant G/A snv 0.32
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3020623
rs3020623
SERPINE1
7 101129564 intron variant G/A snv 0.32
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1799762
rs1799762
SERPINE1
7 101126425 upstream gene variant -/G delins
CUI: C4016325
Disease: TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF
TRANSCRIPTION OF PLASMINOGEN ACTIVATOR INHIBITOR, MODULATOR OF 		0.700 0