rs777692567, PLAT

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Activated Protein C Resistance
CUI: C0600433
Disease: Activated Protein C Resistance
30 0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05 0.020 1.000 2 2002 2005
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
46 0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05 0.010 1.000 1 2013 2013
SMALL PATELLA SYNDROME
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
15 0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05 0.010 1.000 1 2005 2005
Sticky platelet syndrome
CUI: C2609046
Disease: Sticky platelet syndrome
2 0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05 0.010 1.000 1 2005 2005
Stiff-Person Syndrome
CUI: C0085292
Disease: Stiff-Person Syndrome
9 0.827 0.200 8 42182845 missense variant G/A snv 4.0E-05 1.4E-05 0.010 1.000 1 2005 2005