STAMBPL1, STAM binding protein like 1, 57559

N. diseases: 16; N. variants: 19
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: rs121434526
rs121434526 		0.882 0.120 10 88941794 missense variant G/A snv 7.0E-06
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 12 2007 2017
dbSNP: rs112602953
rs112602953 		0.925 0.120 10 88943813 missense variant C/G;T snv 4.0E-06
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 10 2007 2017
dbSNP: rs121434528
rs121434528 		0.925 0.120 10 88939543 missense variant G/A snv 7.0E-06
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 10 2007 2017
dbSNP: rs121434527
rs121434527 		0.925 0.120 10 88939542 missense variant C/T snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 8 2007 2017
dbSNP: rs397516685
rs397516685 		0.882 0.120 10 88939680 missense variant C/T snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 1.000 8 2007 2017
dbSNP: rs387906592
rs387906592 		0.752 0.280 10 88941309 missense variant C/T snv
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.800 1.000 6 2010 2013
dbSNP: rs387906592
rs387906592 		0.752 0.280 10 88941309 missense variant C/T snv
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.800 1.000 1 2011 2011
dbSNP: rs794728021
rs794728021 		0.925 0.120 10 88948815 missense variant C/T snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs387906592
rs387906592 		0.752 0.280 10 88941309 missense variant C/T snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 9 2010 2015
dbSNP: rs1057521105
rs1057521105 		1.000 0.120 10 88941291 missense variant C/T snv 7.1E-06
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 8 2007 2017
dbSNP: rs112901682
rs112901682 		0.925 0.120 10 88948816 missense variant G/A;C snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 8 2009 2016
dbSNP: rs1554841298
rs1554841298 		1.000 0.120 10 88941384 missense variant A/G snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 8 2007 2017
dbSNP: rs777832794
rs777832794 		1.000 0.120 10 88938074 missense variant G/T snv 6.0E-05 2.8E-05
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 8 2007 2017
dbSNP: rs387906592
rs387906592 		0.752 0.280 10 88941309 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 5 2009 2013
dbSNP: rs886039303
rs886039303 		0.882 0.160 10 88941310 missense variant G/A snv
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 4 2014 2017
dbSNP: rs112602953
rs112602953 		0.925 0.120 10 88943813 missense variant C/G;T snv 4.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 3 2007 2012
dbSNP: rs112901682
rs112901682 		0.925 0.120 10 88948816 missense variant G/A;C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2011 2011
dbSNP: rs397516685
rs397516685 		0.882 0.120 10 88939680 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2009 2009
dbSNP: rs1254836237
rs1254836237 		1.000 0.120 10 88947270 missense variant G/A;C snv 2.1E-05
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1926203
rs1926203 		0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1926203
rs1926203 		0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1926203
rs1926203 		0.882 0.160 10 88967577 intron variant C/A snv 0.59
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs121434526
rs121434526 		0.882 0.120 10 88941794 missense variant G/A snv 7.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs121434526
rs121434526 		0.882 0.120 10 88941794 missense variant G/A snv 7.0E-06
CUI: C1846837
Disease: Aortic Aneurysm, Familial Thoracic 2
Aortic Aneurysm, Familial Thoracic 2 		Cardiovascular Diseases 0.700 0
dbSNP: rs121434527
rs121434527 		0.925 0.120 10 88939542 missense variant C/T snv
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		0.700 0