Annotation Detail
Information
- Associated Genes
- ADRB2
- Associated Variants
-
UGT1A6 c.862-9099C>T, UGT1A5 c.868-9099C>T, UGT1A9 c.856-9099C>T, UGT1A7 c.856-9099C>T, UGT1A4 c.868-9099C>T, UGT1A8 c.856-9099C>T, UGT1A10 c.856-9099C>T, UGT1A3 c.868-9099C>T
(
ENST00000344644.10,
ENST00000373445.1,
ENST00000373450.5,
ENST00000373426.4,
ENST00000305139.11,
ENST00000373424.5,
ENST00000406651.1,
ENST00000373414.4,
ENST00000354728.5,
ENST00000373409.8,
ENST00000482026.6 )
UGT1A6 c.862-6536G>A, UGT1A5 c.868-6536G>A, UGT1A9 c.856-6536G>A, UGT1A7 c.856-6536G>A, UGT1A4 c.868-6536G>A, UGT1A8 c.856-6536G>A, UGT1A10 c.856-6536G>A, UGT1A3 c.868-6536G>A, UGT1A1 p.Gly71Arg (p.G71R) ( ENST00000373450.5, ENST00000305139.11, ENST00000360418.4, ENST00000344644.10, ENST00000373409.8, ENST00000354728.5, ENST00000305208.10, ENST00000482026.6, ENST00000406651.1, ENST00000373414.4, ENST00000373426.4, ENST00000373445.1, ENST00000373424.5 )
UGT1A6 c.862-2092G>A, UGT1A5 c.868-2092G>A, UGT1A9 c.856-2092G>A, UGT1A7 c.856-2092G>A, UGT1A4 c.868-2092G>A, UGT1A8 c.856-2092G>A, UGT1A10 c.856-2092G>A, UGT1A3 c.868-2092G>A, UGT1A1 c.865-2092G>A ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-2092G>C, UGT1A5 c.868-2092G>C, UGT1A9 c.856-2092G>C, UGT1A7 c.856-2092G>C, UGT1A4 c.868-2092G>C, UGT1A8 c.856-2092G>C, UGT1A10 c.856-2092G>C, UGT1A3 c.868-2092G>C, UGT1A1 c.865-2092G>C ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-1428C>G, UGT1A5 c.868-1428C>G, UGT1A9 c.856-1428C>G, UGT1A7 c.856-1428C>G, UGT1A4 c.868-1428C>G, UGT1A8 c.856-1428C>G, UGT1A10 c.856-1428C>G, UGT1A3 c.868-1428C>G, UGT1A1 c.865-1428C>G ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.1301+574C>T, UGT1A5 c.1307+574C>T, UGT1A9 c.1295+574C>T, UGT1A7 c.1295+574C>T, UGT1A4 c.1307+574C>T, UGT1A8 c.1295+574C>T, UGT1A10 c.1295+574C>T, UGT1A3 c.1307+574C>T, UGT1A1 c.1304+574C>T ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
rs4148329
ADRB2 p.Gly16Arg (p.G16R) ( ENST00000305988.6 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
CYP3A4 c.671-202C>T ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
CYP3A4 c.670+258T>C ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
UGT1A6 c.862-9099C>T, UGT1A5 c.868-9099C>T, UGT1A9 c.856-9099C>T, UGT1A7 c.856-9099C>T, UGT1A4 c.868-9099C>T, UGT1A8 c.856-9099C>T, UGT1A10 c.856-9099C>T, UGT1A3 c.868-9099C>T ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000482026.6 )
UGT1A6 c.862-6536G>A, UGT1A5 c.868-6536G>A, UGT1A9 c.856-6536G>A, UGT1A7 c.856-6536G>A, UGT1A4 c.868-6536G>A, UGT1A8 c.856-6536G>A, UGT1A10 c.856-6536G>A, UGT1A3 c.868-6536G>A, UGT1A1 p.Gly71Arg (p.G71R) ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-2092G>A, UGT1A5 c.868-2092G>A, UGT1A9 c.856-2092G>A, UGT1A7 c.856-2092G>A, UGT1A4 c.868-2092G>A, UGT1A8 c.856-2092G>A, UGT1A10 c.856-2092G>A, UGT1A3 c.868-2092G>A, UGT1A1 c.865-2092G>A ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-2092G>C, UGT1A5 c.868-2092G>C, UGT1A9 c.856-2092G>C, UGT1A7 c.856-2092G>C, UGT1A4 c.868-2092G>C, UGT1A8 c.856-2092G>C, UGT1A10 c.856-2092G>C, UGT1A3 c.868-2092G>C, UGT1A1 c.865-2092G>C ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.862-1428C>G, UGT1A5 c.868-1428C>G, UGT1A9 c.856-1428C>G, UGT1A7 c.856-1428C>G, UGT1A4 c.868-1428C>G, UGT1A8 c.856-1428C>G, UGT1A10 c.856-1428C>G, UGT1A3 c.868-1428C>G, UGT1A1 c.865-1428C>G ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
UGT1A6 c.1301+574C>T, UGT1A5 c.1307+574C>T, UGT1A9 c.1295+574C>T, UGT1A7 c.1295+574C>T, UGT1A4 c.1307+574C>T, UGT1A8 c.1295+574C>T, UGT1A10 c.1295+574C>T, UGT1A3 c.1307+574C>T, UGT1A1 c.1304+574C>T ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000305139.11, ENST00000373424.5, ENST00000406651.1, ENST00000373414.4, ENST00000354728.5, ENST00000373409.8, ENST00000305208.10, ENST00000360418.4, ENST00000482026.6 )
rs4148329
ADRB2 p.Gly16Arg (p.G16R) ( ENST00000305988.6 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
CYP3A4 c.671-202C>T ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 )
CYP3A4 c.670+258T>C ( ENST00000336411.7, ENST00000354593.6, ENST00000651514.1, ENST00000652018.1 ) - Associated Disease
- Aortic Aneurysm, Thoracic
- Source Database
- DisGeNET
- Description
- We genotyped β2-adrenergic receptor (ADRB2) (Arg16Gly and Gln27Glu), cytochrome P450 3A4 (rs2246709, rs4646437), and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) (rs4148323 [allele A, *6], rs12479045, rs4148328, rs4663971, rs12052787, rs4148329, A (TA)6/7 TAA [seven-repeat allele, *28]).
- Pubmed
- 25171434
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs