chr14:36649246:C>T Detail (hg19)

Information

Genome

Assembly Position
hg19 chr14:36,649,246-36,649,246
hg38 chr14:36,180,040-36,180,040 View the variant detail on this assembly version.

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.428
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
0.124 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
0.002 Malignant neoplasm of thyroid In a multicenter retrospective case-control study, five thyroid cancer-related S... BeFree 25562676 Detail
<0.001 Carcinogenesis Association of rs944289, which was previously known to confer risk for thyroid c... BeFree 25562676 Detail
0.001 Carcinogenesis Association of rs944289, which was previously known to confer risk for thyroid c... BeFree 25562676 Detail
0.001 differentiated thyroid gland carcinoma The NKX2-1 rs944289 SNP, however, appears to play a secondary role in the develo... BeFree 24325646 Detail
0.005 Thyroid Neoplasm [the strongest association signals were observed for rs965513 on 9q22.] GAD 19198613 Detail
0.006 Thyroid carcinoma [the strongest association signals were observed for rs965513 on 9q22.] GAD 19198613 Detail
<0.001 Malignant neoplasm of thyroid Association of rs944289, which was previously known to confer risk for thyroid c... BeFree 25562676 Detail
<0.001 Malignant neoplasm of thyroid Association of rs944289, which was previously known to confer risk for thyroid c... BeFree 25562676 Detail
0.120 Thyroid carcinoma Association of rs944289, which was previously known to confer risk for thyroid c... BeFree 25562676 Detail
<0.001 Papillary thyroid carcinoma Our data suggest that SNP rs944289 predisposes to PTC through a previously uncha... BeFree 22586128 Detail
<0.001 Thyroid carcinoma Association of rs944289, which was previously known to confer risk for thyroid c... BeFree 25562676 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
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
In a multicenter retrospective case-control study, five thyroid cancer-related SNPs-rs966513 (9q22.3... DisGeNET Detail
Association of rs944289, which was previously known to confer risk for thyroid cancer, with FA, and ... DisGeNET Detail
Association of rs944289, which was previously known to confer risk for thyroid cancer, with FA, and ... DisGeNET Detail
The NKX2-1 rs944289 SNP, however, appears to play a secondary role in the development of DTC in the ... DisGeNET Detail
[the strongest association signals were observed for rs965513 on 9q22.] DisGeNET Detail
[the strongest association signals were observed for rs965513 on 9q22.] DisGeNET Detail
Association of rs944289, which was previously known to confer risk for thyroid cancer, with FA, and ... DisGeNET Detail
Association of rs944289, which was previously known to confer risk for thyroid cancer, with FA, and ... DisGeNET Detail
Association of rs944289, which was previously known to confer risk for thyroid cancer, with FA, and ... DisGeNET Detail
Our data suggest that SNP rs944289 predisposes to PTC through a previously uncharacterized, long int... DisGeNET Detail
Association of rs944289, which was previously known to confer risk for thyroid cancer, with FA, and ... DisGeNET Detail
Gene
-
dbSNP
rs944289 dbSNP
Genome
hg19
Position
chr14:36,649,246-36,649,246
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs944289
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.428
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7173
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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