chr9:97793827:A>G Detail (hg38)

Information

Genome

Assembly Position
hg19 chr9:100,556,109-100,556,109 View the variant detail on this assembly version.
hg38 chr9:97,793,827-97,793,827

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.947
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
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 differentiated thyroid gland carcinoma Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per... BeFree 25879635 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 strongest association signals were observed for rs965513 on 9q22.] GAD 19198613 Detail
0.001 differentiated thyroid gland carcinoma Our results confirm that the FOXE1 rs965513 SNP confers an increased risk for DT... BeFree 24325646 Detail
Annotation

Annotations

DescrptionSourceLinks
Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95%... DisGeNET Detail
Significant association with DTC risk was found for rs944289 near NKX2-1 (OR per A allele = 1.6, 95%... DisGeNET Detail
[the strongest association signals were observed for rs965513 on 9q22.] DisGeNET Detail
Our results confirm that the FOXE1 rs965513 SNP confers an increased risk for DTC in the German popu... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs965513 dbSNP
Genome
hg38
Position
chr9:97,793,827-97,793,827
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))
rs965513
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.9468
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15869
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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