ITGB3, integrin subunit beta 3, 3690

N. diseases: 260; N. variants: 44
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: 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: rs1057518837
rs1057518837 		17 47299316 stop gained C/T snv
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057518837
rs1057518837 		17 47299316 stop gained C/T snv
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		0.700 0
dbSNP: rs1057518838
rs1057518838 		17 47286394 missense variant A/G snv
CUI: C1458140
Disease: Bleeding tendency
Bleeding tendency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057518838
rs1057518838 		17 47286394 missense variant A/G snv
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		0.700 0
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: rs1555572829
rs1555572829 		1.000 17 47292251 missense variant A/G snv
CUI: C3854603
Disease: FNAITP
FNAITP 		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: rs398122373
rs398122373 		1.000 0.080 17 47302841 splice donor variant G/C snv
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs398122374
rs398122374 		0.925 0.120 17 47307567 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C1861195
Disease: Glanzmann Thrombasthenia, Autosomal Dominant
Glanzmann Thrombasthenia, Autosomal Dominant 		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: rs117107187
rs117107187 		17 47252031 upstream gene variant A/G snv 5.5E-03
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs73316435
rs73316435 		0.882 17 47252111 upstream gene variant C/A;T snv
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs8064853
rs8064853 		17 47285812 intron variant A/G snv 2.1E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8064853
rs8064853 		17 47285812 intron variant A/G snv 2.1E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9912177
rs9912177 		17 47285851 intron variant A/T snv 6.4E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012