PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
Disease: Protein S Deficiency ×
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: rs1328295730
rs1328295730 		1.000 0.040 3 93906074 missense variant G/A snv
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs387906674
rs387906674 		0.925 0.040 3 93893025 missense variant G/A snv 2.0E-05
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs6123
rs6123 		0.925 0.080 3 93874275 synonymous variant T/C snv 0.43 0.34
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs753950548
rs753950548 		1.000 0.040 3 93910654 missense variant G/T snv 1.4E-05
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 2000 2000
dbSNP: rs963668412
rs963668412 		0.925 0.040 3 93927362 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 1999 1999