GP1BB, glycoprotein Ib platelet subunit beta, 2812

N. diseases: 192; N. variants: 7
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: rs121909750
rs121909750 		1.000 0.080 22 19724181 missense variant A/G;T snv 4.2E-04
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 2 1997 2001
dbSNP: rs121909751
rs121909751 		1.000 0.080 22 19724240 missense variant G/C snv
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 1 1997 1997
dbSNP: rs1059196
rs1059196 		22 19724571 3 prime UTR variant C/T snv 0.42
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1059196
rs1059196 		22 19724571 3 prime UTR variant C/T snv 0.42
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1059196
rs1059196 		22 19724571 3 prime UTR variant C/T snv 0.42
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs121909752
rs121909752 		0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs121909752
rs121909752 		0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121909752
rs121909752 		0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		0.700 0
dbSNP: rs121909752
rs121909752 		0.925 0.080 22 19723980 stop gained G/A;C snv 7.5E-06
CUI: C1856447
Disease: Bernard-Soulier Syndrome, Type B
Bernard-Soulier Syndrome, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs587783648
rs587783648 		1.000 0.080 22 19724183 missense variant C/T snv 7.1E-06
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs730882059
rs730882059 		1.000 0.080 22 19723410 3 prime UTR variant C/G snv 7.6E-06 7.0E-06
CUI: C1856447
Disease: Bernard-Soulier Syndrome, Type B
Bernard-Soulier Syndrome, Type B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121909750
rs121909750 		1.000 0.080 22 19724181 missense variant A/G;T snv 4.2E-04
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		Hemic and Lymphatic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs750315624
rs750315624 		1.000 0.040 22 19724358 missense variant T/C snv 7.0E-06
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012