chr9:100615914:A>G Detail (hg19) (FOXE1)

Information

Genome

Assembly Position
hg19 chr9:100,615,914-100,615,914
hg38 chr9:97,853,632-97,853,632 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004473.3:c.-283A>G
Ensemble ENST00000375123.5:c.-283A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.871
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
Type Database ID Link
Gene MIM 602617 OMIM
HGNC 3806 HGNC
Ensembl ENSG00000178919 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv36963382 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-11-11 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Malignant neoplasm of thyroid The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility throug... BeFree 19730683 Detail
0.001 differentiated thyroid gland carcinoma Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per... BeFree 25879635 Detail
0.007 Thyroid carcinoma [The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility throu... GAD 19730683 Detail
<0.001 Malignant neoplasm of thyroid The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility throug... BeFree 19730683 Detail
<0.001 Thyroid carcinoma The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility throug... BeFree 19730683 Detail
0.007 Thyroid carcinoma The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility throug... BeFree 19730683 Detail
0.001 differentiated thyroid gland carcinoma Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per... BeFree 25879635 Detail
0.124 Papillary thyroid carcinoma In a multicenter retrospective case-control study, five thyroid cancer-related S... BeFree 25562676 Detail
0.007 Thyroid carcinoma In a multicenter retrospective case-control study, five thyroid cancer-related S... BeFree 25562676 Detail
<0.001 Papillary thyroid carcinoma In a multicenter retrospective case-control study, five thyroid cancer-related S... BeFree 25562676 Detail
<0.001 Thyroid carcinoma The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility throug... BeFree 19730683 Detail
0.002 Malignant neoplasm of thyroid The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility throug... BeFree 19730683 Detail
0.002 Malignant neoplasm of thyroid In a multicenter retrospective case-control study, five thyroid cancer-related S... BeFree 25562676 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004473.4(FOXE1):c.-283A>G AND not provided ClinVar Detail
The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of... DisGeNET Detail
Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95%... DisGeNET Detail
[The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment o... DisGeNET Detail
The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of... DisGeNET Detail
The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of... DisGeNET Detail
The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of... DisGeNET Detail
Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95%... DisGeNET Detail
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... DisGeNET Detail
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... DisGeNET Detail
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... DisGeNET Detail
The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of... DisGeNET Detail
The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of... DisGeNET Detail
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1867277 dbSNP
Genome
hg19
Position
chr9:100,615,914-100,615,914
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))
rs1867277
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.871
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14586
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16746
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