PROS1, protein S, 5627

N. diseases: 283; N. variants: 57
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: 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: 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: rs387906675
rs387906675 		0.882 0.080 3 93900830 missense variant T/C snv 4.0E-06
CUI: C3281092
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2010 2010
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: 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
dbSNP: rs1223579199
rs1223579199 		1.000 3 93892946 missense variant C/T snv
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: rs1302089144
rs1302089144 		1.000 3 93874280 missense variant A/G 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: rs144526169
rs144526169 		1.000 3 93910681 missense variant C/T snv 3.4E-04 3.9E-04
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: rs1455675811
rs1455675811 		1.000 3 93898552 missense variant C/T snv
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: rs200886866
rs200886866 		1.000 3 93910696 missense variant C/T snv 2.0E-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 1.000 20 1994 2008
dbSNP: rs202190731
rs202190731 		1.000 3 93874387 missense variant G/A snv 1.8E-04 6.3E-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: rs557733421
rs557733421 		1.000 3 93924240 missense variant C/G snv 4.9E-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: rs7614835
rs7614835 		1.000 3 93927365 missense variant C/A;T snv 1.7E-03; 1.4E-04
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: rs777616039
rs777616039 		1.000 3 93898500 missense variant T/C 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
dbSNP: rs778685576
rs778685576 		1.000 3 93874282 stop gained G/A;T 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
dbSNP: rs778731080
rs778731080 		1.000 3 93910664 missense variant G/A snv 1.6E-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 1.000 20 1994 2008
dbSNP: rs780863931
rs780863931 		1.000 3 93893024 missense variant C/T snv 1.6E-05 1.4E-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: rs941433523
rs941433523 		1.000 3 93893019 missense variant C/T snv
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: rs6122
rs6122 		0.925 3 93927251 missense variant G/A snv 5.2E-05 2.8E-05
CUI: C3281092
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		0.700 1.000 4 1995 2012
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