ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
Disease: Thrombasthenia ×
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: rs121918447
rs121918447 		1.000 0.080 17 47310169 missense variant T/C snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 19 1990 2017
dbSNP: rs121918449
rs121918449 		1.000 0.080 17 47291027 missense variant G/A snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 19 1990 2017
dbSNP: rs121918444
rs121918444 		1.000 0.080 17 47286364 missense variant G/A snv 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 19 1990 2017
dbSNP: rs121918445
rs121918445 		1.000 0.080 17 47284514 missense variant G/T snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 19 1990 2017
dbSNP: rs121918446
rs121918446 		1.000 0.080 17 47286363 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 19 1990 2017
dbSNP: rs121918452
rs121918452 		1.000 0.080 17 47284509 missense variant T/G snv 2.0E-05
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 19 1990 2017
dbSNP: rs79775494
rs79775494 		1.000 0.080 17 47287128 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 19 1990 2017
dbSNP: rs79560904
rs79560904 		1.000 0.080 17 47286385 missense variant G/A snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs143146734
rs143146734 		1.000 0.080 17 47284644 missense variant C/T snv 4.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 19 1990 2017
dbSNP: rs144884023
rs144884023 		1.000 0.080 17 47299430 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 19 1990 2017
dbSNP: rs377162158
rs377162158 		1.000 0.080 17 47286370 missense variant G/A snv 1.4E-05
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 19 1990 2017
dbSNP: rs74554539
rs74554539 		1.000 0.080 17 47283379 missense variant G/A snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 19 1990 2017
dbSNP: rs747534508
rs747534508 		1.000 0.080 17 47299418 missense variant T/A;C snv 4.0E-06; 8.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 19 1990 2017
dbSNP: rs781062792
rs781062792 		1.000 0.080 17 47283543 missense variant C/T snv 3.6E-05 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 19 1990 2017
dbSNP: rs121918450
rs121918450 		1.000 0.080 17 47307584 stop gained C/T snv 4.4E-05 1.5E-04
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918451
rs121918451 		1.000 0.080 17 47300488 stop gained G/T snv
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs13306476
rs13306476 		1.000 0.080 17 47287209 missense variant A/C;G snv 4.0E-06; 8.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567764064
rs1567764064 		1.000 0.080 17 47283513 frameshift variant G/- del
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs749261962
rs749261962 		1.000 0.080 17 47287068 splice acceptor variant A/G snv 8.0E-06 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs767548512
rs767548512 		1.000 0.080 17 47284529 missense variant A/C;G snv 4.0E-06; 4.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs77963874
rs77963874 		1.000 0.080 17 47284512 missense variant T/G snv 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs79208797
rs79208797 		1.000 0.080 17 47286310 missense variant T/C snv 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs958609406
rs958609406 		1.000 0.080 17 47284646 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2019