SERPIND1, serpin family D member 1, 3053

N. diseases: 60; N. variants: 5
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: rs121912420
rs121912420 		1.000 0.040 22 20786951 missense variant C/T snv 1.4E-05
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.800 1.000 4 1989 2004
dbSNP: rs5907
rs5907 		1.000 0.040 22 20779935 missense variant G/A snv 1.4E-03 1.6E-03
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.800 1.000 4 1989 2004
dbSNP: rs142451096
rs142451096 		1.000 0.040 22 20786905 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.700 1.000 4 1989 2004
dbSNP: rs587777759
rs587777759 		1.000 0.040 22 20779632 frameshift variant -/T delins
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.700 0
dbSNP: rs587777760
rs587777760 		1.000 0.040 22 20786993 frameshift variant TT/- delins
CUI: C0398626
Disease: Heparin cofactor II deficiency (disorder)
Heparin cofactor II deficiency (disorder) 		Cardiovascular Diseases 0.700 0