Annotation Detail

Information
Associated Genes
RTEL1
Associated Variants
RTEL1 c.102+151A>G, RTEL1-TNFRSF6B c.102+151A>G ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
RTEL1 c.1037+140A>G, RTEL1-TNFRSF6B c.1121+140A>G ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
RTEL1 c.1191+227T>C, RTEL1-TNFRSF6B c.1275+227T>C ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
RTEL1 c.1349-771T>C, RTEL1-TNFRSF6B c.1433-771T>C ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
RTEL1 c.102+151A>G, RTEL1-TNFRSF6B c.102+151A>G ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
RTEL1 c.1037+140A>G, RTEL1-TNFRSF6B c.1121+140A>G ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
RTEL1 c.1191+227T>C, RTEL1-TNFRSF6B c.1275+227T>C ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
RTEL1 c.1349-771T>C, RTEL1-TNFRSF6B c.1433-771T>C ( ENST00000318100.9, ENST00000360203.11, ENST00000370018.7, ENST00000508582.7, ENST00000492259.6 )
Associated Disease
Astrocytoma
Source Database
DisGeNET
Description
Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033).
Pubmed
26014354
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2015
Drugs