chr20:63678486:A>G Detail (hg38) (RTEL1, RTEL1-TNFRSF6B)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr20:62,309,839-62,309,839 View the variant detail on this assembly version.
hg38	chr20:63,678,486-63,678,486

HGVS

RTEL1
RTEL1-TNFRSF6B

Type	Transcript	Protein
RefSeq	NM_001283010.1:c.368+140A>G
	NM_001283009.1:c.1037+140A>G
	NM_016434.3:c.1037+140A>G
	NM_032957.4:c.1109+140A>G
Ensemble	ENST00000318100.9:c.368+140A>G
	ENST00000360203.11:c.1037+140A>G
	ENST00000370018.7:c.1037+140A>G
	ENST00000508582.7:c.1109+140A>G

Type	Transcript	Protein
RefSeq
Ensemble	ENST00000492259.6:c.1121+140A>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.313
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance	Benign
Review star
Show details

Links

RTEL1
RTEL1-TNFRSF6B

Type	Database	ID	Link
Gene	MIM	608833	OMIM
	HGNC	15888	HGNC
	Ensembl	ENSG00000258366	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv64354775	TogoVar
	COSMIC
	MONDO

Type	Database	ID	Link
Gene	MIM
	HGNC	44095	HGNC
	Ensembl	ENSG00000026036	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv64354775	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2018-11-12	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.130	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.257	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.223	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.173	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail
0.252	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail
0.257	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail
0.269	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.136	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.136	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail
0.252	Glioma	Seven independent chromosomal loci have robustly been associated with glioma ris...	BeFree	21825990	Detail
0.130	Glioma	Genome-wide association studies have identified single-nucleotide polymorphisms ...	BeFree	23161787	Detail
<0.001	anaplastic astrocytoma	Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs141282...	BeFree	20212223	Detail
<0.001	anaplastic astrocytoma	Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs141282...	BeFree	20212223	Detail
<0.001	Astrocytoma	Moreover, the stratified analyses showed a decreased risk of astrocytoma associa...	BeFree	26014354	Detail
0.002	glioblastoma	Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3...	BeFree	21350045	Detail
<0.001	glioblastoma	Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3...	BeFree	21350045	Detail
0.257	Glioma	Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3...	BeFree	21350045	Detail
0.018	glioblastoma	Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3...	BeFree	21350045	Detail
0.252	Glioma	Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3...	BeFree	21350045	Detail
0.269	Glioma	Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.3...	BeFree	21350045	Detail
0.136	Glioma	We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ...	BeFree	19578367	Detail
0.136	Glioma	Genome-wide association data have identified common genetic variants at 5p15.33 ...	BeFree	20462933	Detail
0.173	Glioma	In analyses including glioma cases with a family history of brain tumours (n = 1...	BeFree	23115063	Detail
0.257	Glioma	We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ...	BeFree	19578367	Detail
0.012	Brain Neoplasms	In analyses including glioma cases with a family history of brain tumours (n = 1...	BeFree	23115063	Detail
<0.001	Chromosome 10, monosomy 10q	rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr...	BeFree	23161787	Detail
0.130	Glioma	Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC...	BeFree	20212223	Detail
0.252	Glioma	Genome-wide association studies have recently identified single-nucleotide polym...	BeFree	20847058	Detail
0.269	Glioma	Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC...	BeFree	20212223	Detail
0.173	Glioma	Genome-wide association data have identified common genetic variants at 5p15.33 ...	BeFree	20462933	Detail
<0.001	Chromosome 10, monosomy 10q	rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr...	BeFree	23161787	Detail
<0.001	Chromosome 10, monosomy 10q	rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr...	BeFree	23161787	Detail
0.130	Glioma	Genome-wide association studies have recently identified single-nucleotide polym...	BeFree	20847058	Detail
0.173	Glioma	Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC...	BeFree	20212223	Detail
0.252	Glioma	Genome-wide association data have identified common genetic variants at 5p15.33 ...	BeFree	20462933	Detail
0.269	Glioma	Genome-wide association data have identified common genetic variants at 5p15.33 ...	BeFree	20462933	Detail
0.136	Glioma	Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC...	BeFree	20212223	Detail
0.136	Glioma	Genome-wide association studies have recently identified single-nucleotide polym...	BeFree	20847058	Detail
0.130	Glioma	We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ...	BeFree	19578367	Detail
0.006	Brain Neoplasms	In analyses including glioma cases with a family history of brain tumours (n = 1...	BeFree	23115063	Detail
0.136	Glioma	In analyses including glioma cases with a family history of brain tumours (n = 1...	BeFree	23115063	Detail
<0.001	Chromosome 10, monosomy 10q	rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr...	BeFree	23161787	Detail
0.257	Glioma	Genome-wide association studies have recently identified single-nucleotide polym...	BeFree	20847058	Detail
0.130	Glioma	Genome-wide association data have identified common genetic variants at 5p15.33 ...	BeFree	20462933	Detail
0.173	Glioma	We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ...	BeFree	19578367	Detail
0.257	Glioma	Genome-wide association data have identified common genetic variants at 5p15.33 ...	BeFree	20462933	Detail
0.136	Brain Neoplasms	In analyses including glioma cases with a family history of brain tumours (n = 1...	BeFree	23115063	Detail
0.269	Glioma	Genome-wide association studies have recently identified single-nucleotide polym...	BeFree	20847058	Detail
0.252	Glioma	Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC...	BeFree	20212223	Detail
0.052	Glioma	Case-control analyses stratified into 4 molecular classes (defined by 1p-19q sta...	BeFree	23161787	Detail
0.269	Glioma	In analyses including glioma cases with a family history of brain tumours (n = 1...	BeFree	23115063	Detail
<0.001	Chromosome 10, monosomy 10q	rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-gr...	BeFree	23161787	Detail
0.269	Glioma	We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x ...	BeFree	19578367	Detail
0.173	Glioma	Genome-wide association studies have recently identified single-nucleotide polym...	BeFree	20847058	Detail
0.257	Glioma	Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant...	BeFree	21920947	Detail
0.173	Glioma	Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant...	BeFree	21920947	Detail
0.136	Glioma	Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant...	BeFree	21920947	Detail
0.257	Glioma	Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma s...	GWASCAT	19578366	Detail
0.120	Glioma	Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma s...	GWASCAT	19578366	Detail
0.257	Glioma	In conclusion, as previously shown for glioma regardless of family history of br...	BeFree	23115063	Detail
0.257	Glioma	We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 contro...	GWASCAT	22886559	Detail
0.120	Glioma	Genome-wide association study identifies five susceptibility loci for glioma.	GWASCAT	19578367	Detail
0.120	Glioma	Variants near TERT and TERC influencing telomere length are associated with high...	GWASCAT	24908248	Detail
0.257	Glioma	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	GWASCAT	21531791	Detail
0.120	Glioma	Genome-wide association study of glioma and meta-analysis.	GWASCAT	22886559	Detail
0.257	Glioma	Regulator of telomere elongation helicase 1 (RTEL1) rs6010620 polymorphism contr...	BeFree	24523019	Detail
0.007	Brain Neoplasms	In conclusion, as previously shown for glioma regardless of family history of br...	BeFree	23115063	Detail
0.120	Glioma	Chromosome 7p11.2 (EGFR) variation influences glioma risk.	GWASCAT	21531791	Detail
0.257	Glioma	The RTEL1 rs6010620 polymorphism and glioma risk: a meta-analysis based on 12 ca...	BeFree	25556444	Detail
0.257	Glioma	Variants near TERT and TERC influencing telomere length are associated with high...	GWASCAT	24908248	Detail
0.257	Glioma	Associations between the rs6010620 polymorphism in RTEL1 and risk of glioma: a m...	BeFree	25227808	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001283009.2(RTEL1):c.1037+140A>G AND not provided	ClinVar	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail
Seven independent chromosomal loci have robustly been associated with glioma risk: 5p15.33 (rs273610...	DisGeNET	Detail
Genome-wide association studies have identified single-nucleotide polymorphisms (SNPs) at 7 loci inf...	DisGeNET	Detail
Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs1412829 and RTEL1 rs601062...	DisGeNET	Detail
Wrensch and colleagues provided further evidence to 2 risk loci (CDKN2B rs1412829 and RTEL1 rs601062...	DisGeNET	Detail
Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs608...	DisGeNET	Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (...	DisGeNET	Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (...	DisGeNET	Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (...	DisGeNET	Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (...	DisGeNET	Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (...	DisGeNET	Detail
Overall, the authors identified 3 susceptibility loci for glioma risk at 20q13.33 (RTEL1 rs6010620 (...	DisGeNET	Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r...	DisGeNET	Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8...	DisGeNET	Detail
In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj...	DisGeNET	Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r...	DisGeNET	Detail
In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj...	DisGeNET	Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am...	DisGeNET	Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A...	DisGeNET	Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi...	DisGeNET	Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A...	DisGeNET	Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8...	DisGeNET	Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am...	DisGeNET	Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am...	DisGeNET	Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi...	DisGeNET	Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A...	DisGeNET	Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8...	DisGeNET	Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8...	DisGeNET	Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A...	DisGeNET	Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi...	DisGeNET	Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r...	DisGeNET	Detail
In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj...	DisGeNET	Detail
In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj...	DisGeNET	Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am...	DisGeNET	Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi...	DisGeNET	Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8...	DisGeNET	Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r...	DisGeNET	Detail
Genome-wide association data have identified common genetic variants at 5p15.33 (rs2736100, TERT), 8...	DisGeNET	Detail
In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj...	DisGeNET	Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi...	DisGeNET	Detail
Our group identified 5 risk loci for glioma susceptibility (TERT rs2736100, CCDC26 rs4295627, CDKN2A...	DisGeNET	Detail
Case-control analyses stratified into 4 molecular classes (defined by 1p-19q status, IDH mutation, a...	DisGeNET	Detail
In analyses including glioma cases with a family history of brain tumours (n = 104) and control subj...	DisGeNET	Detail
rs2736100 (TERT) and rs6010620 (RTEL1) risk alleles were associated with high-grade disease, EGFR am...	DisGeNET	Detail
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (r...	DisGeNET	Detail
Genome-wide association studies have recently identified single-nucleotide polymorphisms (SNP) in fi...	DisGeNET	Detail
Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2...	DisGeNET	Detail
Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2...	DisGeNET	Detail
Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2...	DisGeNET	Detail
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.	DisGeNET	Detail
Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.	DisGeNET	Detail
In conclusion, as previously shown for glioma regardless of family history of brain tumours, rs60106...	DisGeNET	Detail
We conducted a new independent GWAS of glioma using 1,856 cases and 4,955 controls (from 14 cohort s...	DisGeNET	Detail
Genome-wide association study identifies five susceptibility loci for glioma.	DisGeNET	Detail
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.	DisGeNET	Detail
Chromosome 7p11.2 (EGFR) variation influences glioma risk.	DisGeNET	Detail
Genome-wide association study of glioma and meta-analysis.	DisGeNET	Detail
Regulator of telomere elongation helicase 1 (RTEL1) rs6010620 polymorphism contribute to increased r...	DisGeNET	Detail
In conclusion, as previously shown for glioma regardless of family history of brain tumours, rs60106...	DisGeNET	Detail
Chromosome 7p11.2 (EGFR) variation influences glioma risk.	DisGeNET	Detail
The RTEL1 rs6010620 polymorphism and glioma risk: a meta-analysis based on 12 case-control studies.	DisGeNET	Detail
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.	DisGeNET	Detail
Associations between the rs6010620 polymorphism in RTEL1 and risk of glioma: a meta-analysis of 20,7...	DisGeNET	Detail

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs6010620 dbSNP
Genome: hg38
Position: chr20:63,678,486-63,678,486
Variant Type: snv
Reference Allele: A
Alternative Allele: G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): rs6010620
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.3135
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 5254
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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