chr20:62318220:T>C Detail (hg19) (RTEL1, RTEL1-TNFRSF6B)

Information

Genome

Assembly Position
hg19 chr20:62,318,220-62,318,220
hg38 chr20:63,686,867-63,686,867 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001283010.1:c.680-771T>C
NM_001283009.1:c.1349-771T>C
NM_016434.3:c.1349-771T>C
Type Transcript Protein
RefSeq
Ensemble ENST00000492259.6:c.1433-771T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.174
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
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 tgv64355217 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 tgv64355217 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Astrocytoma Moreover, the stratified analyses showed a decreased risk of astrocytoma associa... BeFree 26014354 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
Annotation

Annotations

DescrptionSourceLinks
Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs608... 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs4809324 dbSNP
Genome
hg19
Position
chr20:62,318,220-62,318,220
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs4809324
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1738
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2913
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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