chr8:73940162:A>G Detail (hg19) (TERF1)

Information

Genome

Assembly Position
hg19 chr8:73,940,162-73,940,162
hg38 chr8:73,027,927-73,027,927 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003218.3:c.887+875A>G
NM_017489.2:c.887+875A>G
Ensemble ENST00000276602.10:c.887+875A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
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 600951 OMIM
HGNC 11728 HGNC
Ensembl ENSG00000147601 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv33557705 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
0.132 melanoma After correction for multiple testing within each gene, two SNPs in the TERT gen... BeFree 21116649 Detail
<0.001 melanoma After correction for multiple testing within each gene, two SNPs in the TERT gen... BeFree 21116649 Detail
Annotation

Annotations

DescrptionSourceLinks
After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2... DisGeNET Detail
After correction for multiple testing within each gene, two SNPs in the TERT gene (rs2853676 and rs2... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2981096 dbSNP
Genome
hg19
Position
chr8:73,940,162-73,940,162
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))
rs2981096
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0006
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
10
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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