PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT ×
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: rs121918475
rs121918475 		1.000 3 93898462 stop gained G/A snv
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1323663956
rs1323663956 		1.000 3 93884766 missense variant T/C;G snv 4.0E-06
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1380889353
rs1380889353 		1.000 3 93877152 missense variant T/G snv 4.0E-06
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs199469500
rs199469500 		1.000 3 93879264 missense variant G/A snv
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs267606981
rs267606981 		1.000 3 93874245 stop lost T/A;C snv 8.0E-06
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs368074804
rs368074804 		1.000 3 93898570 splice acceptor variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs387906674
rs387906674 		0.925 0.040 3 93893025 missense variant G/A snv 2.0E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs6122
rs6122 		0.925 3 93927251 missense variant G/A snv 5.2E-05 2.8E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs748630360
rs748630360 		1.000 3 93927336 missense variant T/C snv 4.0E-06 2.8E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs749024073
rs749024073 		1.000 3 93906104 missense variant T/C snv 8.0E-06
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs750531364
rs750531364 		1.000 3 93877004 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs751090951
rs751090951 		1.000 3 93905915 missense variant T/C snv 2.0E-05 7.0E-06
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs765935815
rs765935815 		1.000 3 93910697 missense variant G/A snv 1.6E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs766423432
rs766423432 		1.000 3 93927284 missense variant T/G snv 3.6E-05 2.1E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs779391826
rs779391826 		1.000 3 93905828 splice donor variant C/T snv 4.0E-06 1.4E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs963668412
rs963668412 		0.925 0.040 3 93927362 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121918474
rs121918474 		0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 1.000 30 1994 2016
dbSNP: rs121918472
rs121918472 		0.925 0.040 3 93879306 missense variant A/C;G snv 1.2E-05; 2.0E-03
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 1.000 21 1994 2010
dbSNP: rs121918473
rs121918473 		1.000 3 93898524 missense variant T/C snv
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.800 1.000 21 1994 2010
dbSNP: rs146366248
rs146366248 		1.000 3 93906059 missense variant G/A;T snv 4.0E-06; 7.7E-04
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 1.000 21 1994 2010
dbSNP: rs368173480
rs368173480 		1.000 3 93874369 missense variant T/C snv
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 1.000 21 1994 2010
dbSNP: rs371028997
rs371028997 		1.000 3 93879213 missense variant T/A;C snv 1.6E-05; 3.2E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 1.000 21 1994 2010
dbSNP: rs1211117206
rs1211117206 		1.000 3 93898563 missense variant T/C snv 7.0E-06
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 1.000 20 1994 2008
dbSNP: rs121918476
rs121918476 		1.000 3 93877155 missense variant G/A;C snv 1.6E-05
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 1.000 20 1994 2008
dbSNP: rs1220553873
rs1220553873 		1.000 3 93874276 missense variant G/A snv 4.0E-06
CUI: C3278211
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT 		0.700 1.000 20 1994 2008