chr7:55091656:A>G Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,159,349-55,159,349 View the variant detail on this assembly version.
hg38 chr7:55,091,656-55,091,656

HGVS

Type Transcript Protein
RefSeq NM_005228.3:c.89-50630A>G
NM_201282.1:c.89-50630A>G
NM_201284.1:c.89-50630A>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 131550 OMIM
HGNC 3236 HGNC
Ensembl ENSG00000146648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv29352066 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
0.130 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
0.223 Glioma [Chromosome 7p11.2 (EGFR) variation influences glioma risk.] GAD 21531791 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
0.223 Glioma Chromosome 7p11.2 (EGFR) variation influences glioma risk. GWASCAT 21531791 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
Annotation

Annotations

DescrptionSourceLinks
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
[Chromosome 7p11.2 (EGFR) variation influences glioma risk.] 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
Chromosome 7p11.2 (EGFR) variation influences glioma risk. 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

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs11979158 dbSNP
Genome
hg38
Position
chr7:55,091,656-55,091,656
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))
rs11979158
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0005
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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