GWAS Catalog

Gene: RTEL1

Gene information

Gene name

RTEL1

Description

regulator of telomere elongation helicase 1

Location

20:63657810-63696253

Cytogenetic region

Biotype

protein_coding

Available data:

Associations 144

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Variant and risk allele	P-value	P-value annotation	RAF	OR	Beta	CI	Mapped gene	Reported trait	Trait(s)	Background trait(s)	Study accession	Location

rs2297440-C	1 x 10^-19	(males)	NR	1.47	-	[1.35-1.59]	RTEL1, RTEL1-TNFRSF6B	Glioblastoma	glioma	-	GCST005932	20:63680946
rs2297440-C	1 x 10^-16	(females)	NR	1.53	-	[1.39-1.70]	RTEL1, RTEL1-TNFRSF6B	Glioblastoma	glioma	-	GCST005932	20:63680946
rs2297440-C	3 x 10^-7	(males)	NR	1.29	-	[1.17-1.43]	RTEL1, RTEL1-TNFRSF6B	Non-glioblastoma glioma	glioma	-	GCST005933	20:63680946
rs2297440-C	4 x 10^-21	(males)	NR	1.42	-	[1.32-1.52]	RTEL1, RTEL1-TNFRSF6B	Glioma	glioma	-	GCST005931	20:63680946
rs2297440-C	1 x 10^-13	(females)	NR	1.37	-	[1.26-1.49]	RTEL1, RTEL1-TNFRSF6B	Glioma	glioma	-	GCST005931	20:63680946

Showing 1 to 5 of 144 entries

Studies115

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First author	Study accession	Pub. date	Journal	Title	Reported trait	Trait(s)	Background trait(s)	Discovery sample number	Replication sample number	Association count	Summary statistics

First author	Study accession	Pub. date	Journal	Title	Reported trait	Trait(s)	Background trait(s)	Discovery sample number	Replication sample number	Association count	Summary statistics

Eckel-Passow JE	GCST011003	2020-05-09	Neuro Oncol	Adult Diffuse Glioma GWAS by Molecular Subtype…	Adult diffuse glioma (IDH wildtype)	glioma	-	• 2587 European, NR	• 1217 European, NR	2	Not available
Eckel-Passow JE	GCST010997	2020-05-09	Neuro Oncol	Adult Diffuse Glioma GWAS by Molecular Subtype…	Adult diffuse glioma (TERT mutation only)	glioma	-	• 2308 European, NR	• 967 European, NR	2	Not available
Rosenberg FM	GCST90429797	2024-06-24	Contact Dermatitis	A genome-wide association study of hand eczema…	Hand eczema vs healthy controls	contact dermatitis	-	• 15195 European	• 5986 European	2	FTP Download
Wrensch M	GCST000440	2009-07-05	Nat Genet	Variants in the CDKN2B and RTEL1 regions are…	Glioma (high-grade)	central nervous system cancer	-	• 4684 European	• 174 African American or Afro-Caribbean, European, Hispanic or Latin American, Asian unspecified, Native American, Other • 2 Other • 174 European	3	Not available
Western D	GCST90426225	2024-11-11	Nat Genet	Proteogenomic analysis of human cerebrospinal…	Tumor necrosis factor receptor superfamily member 6B levels	protein measurement	-	• 3506 European		2	FTP Download

Showing 1 to 5 of 115 entries