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: 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
dbSNP: rs121918472
rs121918472 		0.925 0.040 3 93879306 missense variant A/C;G snv 1.2E-05; 2.0E-03
CUI: C3890030
Disease: PROTEIN S HEERLEN PHENOTYPE
PROTEIN S HEERLEN PHENOTYPE 		0.700 0
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: rs1241365457
rs1241365457 		1.000 3 93924247 frameshift variant T/- delins 1.4E-05
CUI: C3281092
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		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: rs1396452003
rs1396452003 		0.925 0.120 3 93879173 missense variant T/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1559926604
rs1559926604 		1.000 3 93874278 stop gained A/T snv
CUI: C3281092
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		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: rs759677822
rs759677822 		1.000 3 93927408 splice acceptor variant C/G;T snv 8.0E-06
CUI: C3281092
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		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: rs863224838
rs863224838 		1.000 3 93893121 frameshift variant A/CC delins
CUI: C3281092
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE 		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: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.060 1.000 6 2014 2019