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: 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: rs398122372
rs398122372
1.000 0.080 17 47307581 missense variant G/A;C snv 4.0E-06
Glanzmann Thrombasthenia, Autosomal Dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 2 2008 2018
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: rs117107187
rs117107187
17 47252031 upstream gene variant A/G snv 5.5E-03
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
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
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
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
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
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: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012