PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
Disease: Reduced protein S activity ×
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: rs144526169
rs144526169 		1.000 3 93910681 missense variant C/T snv 3.4E-04 3.9E-04
CUI: C4025284
Disease: Reduced protein S activity
Reduced protein S activity 		0.700 1.000 1 2019 2019
dbSNP: rs5017717
rs5017717 		3 93884869 stop gained G/A snv
CUI: C4025284
Disease: Reduced protein S activity
Reduced protein S activity 		0.700 1.000 1 2019 2019
dbSNP: rs6122
rs6122 		0.925 3 93927251 missense variant G/A snv 5.2E-05 2.8E-05
CUI: C4025284
Disease: Reduced protein S activity
Reduced protein S activity 		0.700 1.000 1 2019 2019