Annotation Detail

Information
Associated Genes
ADRB1
Associated Variants
ADRB1 p.Gly389Arg (p.G389R) ( ENST00000369295.4 )
GNAS c.2069-5096G>A ( ENST00000306090.12, ENST00000313949.11, ENST00000349036.9, ENST00000371075.7, ENST00000371098.6, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000423897.7, ENST00000453292.7, ENST00000461152.6, ENST00000462499.6, ENST00000464788.6, ENST00000464960.5, ENST00000467227.6, ENST00000467321.6, ENST00000469431.6, ENST00000470512.6, ENST00000472183.6, ENST00000477931.5, ENST00000478585.6, ENST00000480232.6, ENST00000480975.5, ENST00000481039.6, ENST00000482112.6, ENST00000484504.5, ENST00000485673.6, ENST00000488546.6, ENST00000491348.5, ENST00000493744.5, ENST00000604005.6, ENST00000657090.1, ENST00000663479.2, ENST00000667293.2, ENST00000676826.2, ENST00000683015.1 )
GNAS c.2069-1594T>C ( ENST00000265620.11, ENST00000306090.12, ENST00000313949.11, ENST00000338783.7, ENST00000349036.9, ENST00000354359.12, ENST00000371075.7, ENST00000371081.5, ENST00000371085.8, ENST00000371095.7, ENST00000371098.6, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000423897.7, ENST00000453292.7, ENST00000461152.6, ENST00000462499.6, ENST00000464788.6, ENST00000464960.5, ENST00000467227.6, ENST00000467321.6, ENST00000468895.6, ENST00000469431.6, ENST00000470512.6, ENST00000472183.6, ENST00000476935.6, ENST00000477931.5, ENST00000478585.6, ENST00000480232.6, ENST00000480975.5, ENST00000481039.6, ENST00000482112.6, ENST00000484504.5, ENST00000485673.6, ENST00000488546.6, ENST00000488652.6, ENST00000491348.5, ENST00000492907.6, ENST00000493744.5, ENST00000603546.2, ENST00000604005.6, ENST00000657090.1, ENST00000663479.2, ENST00000667293.2, ENST00000676826.2, ENST00000682803.1, ENST00000683015.1 )
ADRB1 p.Gly389Arg (p.G389R) ( ENST00000369295.4 )
GNAS c.2069-5096G>A ( ENST00000306090.12, ENST00000313949.11, ENST00000349036.9, ENST00000371075.7, ENST00000371098.6, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000423897.7, ENST00000453292.7, ENST00000461152.6, ENST00000462499.6, ENST00000464788.6, ENST00000464960.5, ENST00000467227.6, ENST00000467321.6, ENST00000469431.6, ENST00000470512.6, ENST00000472183.6, ENST00000477931.5, ENST00000478585.6, ENST00000480232.6, ENST00000480975.5, ENST00000481039.6, ENST00000482112.6, ENST00000484504.5, ENST00000485673.6, ENST00000488546.6, ENST00000491348.5, ENST00000493744.5, ENST00000604005.6, ENST00000657090.1, ENST00000663479.2, ENST00000667293.2, ENST00000676826.2, ENST00000683015.1 )
GNAS c.2069-1594T>C ( ENST00000265620.11, ENST00000306090.12, ENST00000313949.11, ENST00000338783.7, ENST00000349036.9, ENST00000354359.12, ENST00000371075.7, ENST00000371081.5, ENST00000371085.8, ENST00000371095.7, ENST00000371098.6, ENST00000371100.9, ENST00000371102.8, ENST00000419558.7, ENST00000423897.7, ENST00000453292.7, ENST00000461152.6, ENST00000462499.6, ENST00000464788.6, ENST00000464960.5, ENST00000467227.6, ENST00000467321.6, ENST00000468895.6, ENST00000469431.6, ENST00000470512.6, ENST00000472183.6, ENST00000476935.6, ENST00000477931.5, ENST00000478585.6, ENST00000480232.6, ENST00000480975.5, ENST00000481039.6, ENST00000482112.6, ENST00000484504.5, ENST00000485673.6, ENST00000488546.6, ENST00000488652.6, ENST00000491348.5, ENST00000492907.6, ENST00000493744.5, ENST00000603546.2, ENST00000604005.6, ENST00000657090.1, ENST00000663479.2, ENST00000667293.2, ENST00000676826.2, ENST00000682803.1, ENST00000683015.1 )
Associated Disease
Heart failure
Source Database
DisGeNET
Description
The present study sought to investigate whether ADRB1 Arg389Gly (rs1801253), GNAS -1211 G/A (rs6123837) and GNAS 2291 C/T (rs6026584) variants are associated with left ventricular function and exercise tolerance in heart failure patients.
Pubmed
23065660
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.248111357926563
Year of publication
2013
Drugs