chr5:1321972:C>T Detail (hg38) (CLPTM1L)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:1,322,087-1,322,087 View the variant detail on this assembly version. |
| hg38 | chr5:1,321,972-1,321,972 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_030782.4:c.1316-153G>A | |
| Ensemble | ENST00000320895.10:c.1316-153G>A | |
| ENST00000507807.3:c.809-153G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.323 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | nicotine dependence | Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPT... | BeFree | 25233467 | Detail |
| 0.243 | Adenocarcinoma of lung (disorder) | Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPT... | BeFree | 25233467 | Detail |
| 0.005 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.121 | Nasopharyngeal carcinoma | Three SNPs (rs401681, rs6774494 and rs3757318) corresponding to TERT/CLPTM1L (OR... | BeFree | 24615621 | Detail |
| <0.001 | Nasopharyngeal carcinoma | Three SNPs (rs401681, rs6774494 and rs3757318) corresponding to TERT/CLPTM1L (OR... | BeFree | 24615621 | Detail |
| 0.123 | Malignant neoplasm of pancreas | [A genome-wide association study identifies pancreatic cancer susceptibility loc... | GAD | 20101243 | Detail |
| 0.009 | Carcinoma of lung | Association between CLPTM1L polymorphisms (rs402710 and rs401681) and lung cance... | BeFree | 24907075 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| <0.001 | squamous cell carcinoma | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| 0.003 | adenocarcinoma | Additionally, in a subgroup analysis by histology type, the CLPTM1L rs401681 pol... | BeFree | 24634236 | Detail |
| 0.122 | Malignant neoplasm of urinary bladder | A multi-stage genome-wide association study of bladder cancer identifies multipl... | GWASCAT | 20972438 | Detail |
| <0.001 | Squamous cell carcinoma of esophagus | TERT-CLPTM1L rs401681 CT and CT/TT genotypes were associated with decreased risk... | BeFree | 25007268 | Detail |
| 0.126 | melanoma | Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locu... | BeFree | 19578363 | Detail |
| 0.003 | pancreatic carcinoma | Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer ris... | BeFree | 24577890 | Detail |
| 0.143 | Malignant neoplasm of lung | Decreased risk of developing lung cancer in subjects carrying the CLPTM1L rs4016... | BeFree | 24634236 | Detail |
| 0.009 | Carcinoma of lung | Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft ... | BeFree | 23653681 | Detail |
| 0.242 | basal cell carcinoma | New basal cell carcinoma susceptibility loci. | GWASCAT | 25855136 | Detail |
| 0.143 | Malignant neoplasm of lung | A common sequence variant, rs401681, located in an intronic region of CLPTM1L, h... | BeFree | 24386361 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locu... | BeFree | 19578363 | Detail |
| 0.001 | Experimental Organism Basal Cell Carcinoma | The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CL... | BeFree | 25159867 | Detail |
| 0.135 | Lung Neoplasms | [Common 5p15.33 and 6p21.33 variants influence lung cancer risk.] | GAD | 18978787 | Detail |
| 0.242 | basal cell carcinoma | Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. | GWASCAT | 19151717 | Detail |
| 0.126 | melanoma | Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the associat... | BeFree | 21116649 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| 0.242 | basal cell carcinoma | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma... | GWASCAT | 24403052 | Detail |
| 0.123 | Malignant neoplasm of pancreas | Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer ris... | BeFree | 24577890 | Detail |
| <0.001 | Malignant neoplasm of skin | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| 0.122 | Malignant neoplasm of urinary bladder | Genome-wide association study identifies multiple loci associated with bladder c... | GWASCAT | 24163127 | Detail |
| 0.132 | melanoma | Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locu... | BeFree | 19578363 | Detail |
| 0.009 | Carcinoma of lung | Decreased risk of developing lung cancer in subjects carrying the CLPTM1L rs4016... | BeFree | 24634236 | Detail |
| 0.009 | Carcinoma of lung | A common sequence variant, rs401681, located in an intronic region of CLPTM1L, h... | BeFree | 24386361 | Detail |
| 0.121 | melanoma | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| <0.001 | Malignant neoplasm of skin | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| 0.005 | Pancreatic Neoplasm | [A genome-wide association study identifies pancreatic cancer susceptibility loc... | GAD | 20101243 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CL... | BeFree | 25159867 | Detail |
| 0.143 | Malignant neoplasm of lung | Common 5p15.33 and 6p21.33 variants influence lung cancer risk. | GWASCAT | 18978787 | Detail |
| 0.143 | Malignant neoplasm of lung | Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft ... | BeFree | 23653681 | Detail |
| <0.001 | Malignant neoplasm of skin | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| 0.005 | squamous cell carcinoma | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| 0.003 | Cleft palate with cleft lip | Recently, one genome-wide association study (GWAS), conducted exclusively among ... | BeFree | 24577890 | Detail |
| 0.126 | melanoma | We also obtained significant results when we tested the association between rs40... | BeFree | 25457634 | Detail |
| 0.123 | Malignant neoplasm of pancreas | Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer ris... | BeFree | 24577890 | Detail |
| <0.001 | Malignant neoplasm of skin | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| 0.001 | Experimental Organism Basal Cell Carcinoma | Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locu... | BeFree | 19578363 | Detail |
| 0.001 | Squamous cell carcinoma of esophagus | TERT-CLPTM1L rs401681 CT and CT/TT genotypes were associated with decreased risk... | BeFree | 25007268 | Detail |
| 0.126 | melanoma | [Genome-wide association study identifies three new melanoma susceptibility loci... | GAD | 21983787 | Detail |
| 0.143 | Malignant neoplasm of lung | [Common 5p15.33 and 6p21.33 variants influence lung cancer risk.] | GAD | 18978787 | Detail |
| 0.126 | melanoma | Genome-wide association study identifies three new melanoma susceptibility loci. | GWASCAT | 21983787 | Detail |
| <0.001 | squamous cell carcinoma | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| <0.001 | Malignant neoplasm of skin | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| 0.143 | Malignant neoplasm of lung | Association between CLPTM1L polymorphisms (rs402710 and rs401681) and lung cance... | BeFree | 24907075 | Detail |
| <0.001 | pancreatic carcinoma | Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer ris... | BeFree | 24577890 | Detail |
| <0.001 | Experimental Organism Basal Cell Carcinoma | We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere... | BeFree | 21116649 | Detail |
| 0.122 | Bladder Neoplasm | [A multi-stage genome-wide association study of bladder cancer identifies multip... | GAD | 20972438 | Detail |
| 0.123 | Malignant neoplasm of pancreas | A genome-wide association study identifies pancreatic cancer susceptibility loci... | GWASCAT | 20101243 | Detail |
| 0.004 | Cleft palate with cleft lip | Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft ... | BeFree | 23653681 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| 0.003 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Large-Cell, Follicular | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
| <0.001 | Lymphoma, Non-Hodgkin | In the pleiotropy analysis, six risk variants for other cancers were associated ... | BeFree | 24598796 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPTM1L had significant ... | DisGeNET | Detail |
| Gene variations rs2736100 and rs2853676 in TERT and rs401681 and rs31489 in CLPTM1L had significant ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Three SNPs (rs401681, rs6774494 and rs3757318) corresponding to TERT/CLPTM1L (OR 95% CI = 0.77, 0.68... | DisGeNET | Detail |
| Three SNPs (rs401681, rs6774494 and rs3757318) corresponding to TERT/CLPTM1L (OR 95% CI = 0.77, 0.68... | DisGeNET | Detail |
| [A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q... | DisGeNET | Detail |
| Association between CLPTM1L polymorphisms (rs402710 and rs401681) and lung cancer susceptibility: ev... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| Additionally, in a subgroup analysis by histology type, the CLPTM1L rs401681 polymorphism was found ... | DisGeNET | Detail |
| A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loc... | DisGeNET | Detail |
| TERT-CLPTM1L rs401681 CT and CT/TT genotypes were associated with decreased risk of ESCC, particular... | DisGeNET | Detail |
| Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibi... | DisGeNET | Detail |
| Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer risk among Chinese Han ... | DisGeNET | Detail |
| Decreased risk of developing lung cancer in subjects carrying the CLPTM1L rs401681 (G>A) polymorp... | DisGeNET | Detail |
| Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft lip and palate trans... | DisGeNET | Detail |
| New basal cell carcinoma susceptibility loci. | DisGeNET | Detail |
| A common sequence variant, rs401681, located in an intronic region of CLPTM1L, has been reported to ... | DisGeNET | Detail |
| Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibi... | DisGeNET | Detail |
| The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was... | DisGeNET | Detail |
| [Common 5p15.33 and 6p21.33 variants influence lung cancer risk.] | DisGeNET | Detail |
| Sequence variants at the TERT-CLPTM1L locus associate with many cancer types. | DisGeNET | Detail |
| Also, the SNP rs401681 in the TERT-CLPTM1L locus was replicated for the association with melanoma ri... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. | DisGeNET | Detail |
| Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer risk among Chinese Han ... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| Genome-wide association study identifies multiple loci associated with bladder cancer risk. | DisGeNET | Detail |
| Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibi... | DisGeNET | Detail |
| Decreased risk of developing lung cancer in subjects carrying the CLPTM1L rs401681 (G>A) polymorp... | DisGeNET | Detail |
| A common sequence variant, rs401681, located in an intronic region of CLPTM1L, has been reported to ... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| [A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q... | DisGeNET | Detail |
| The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was... | DisGeNET | Detail |
| Common 5p15.33 and 6p21.33 variants influence lung cancer risk. | DisGeNET | Detail |
| Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft lip and palate trans... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| Recently, one genome-wide association study (GWAS), conducted exclusively among women of European an... | DisGeNET | Detail |
| We also obtained significant results when we tested the association between rs401681 variant (TERT-C... | DisGeNET | Detail |
| Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer risk among Chinese Han ... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| Finally, we report conclusive evidence that rs401681[C] in the TERT-CLPTM1L locus confers susceptibi... | DisGeNET | Detail |
| TERT-CLPTM1L rs401681 CT and CT/TT genotypes were associated with decreased risk of ESCC, particular... | DisGeNET | Detail |
| [Genome-wide association study identifies three new melanoma susceptibility loci.] | DisGeNET | Detail |
| [Common 5p15.33 and 6p21.33 variants influence lung cancer risk.] | DisGeNET | Detail |
| Genome-wide association study identifies three new melanoma susceptibility loci. | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| Association between CLPTM1L polymorphisms (rs402710 and rs401681) and lung cancer susceptibility: ev... | DisGeNET | Detail |
| Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer risk among Chinese Han ... | DisGeNET | Detail |
| We evaluated the associations between 39 SNPs, including 38 tag-SNPs in telomere-related genes (TERT... | DisGeNET | Detail |
| [A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility lo... | DisGeNET | Detail |
| A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q2... | DisGeNET | Detail |
| Common genetic polymorphisms on chromosome 5p15.33, including rs401681 in cleft lip and palate trans... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
| In the pleiotropy analysis, six risk variants for other cancers were associated with NHL risk, inclu... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs401681 dbSNP
- Genome
- hg38
- Position
- chr5:1,321,972-1,321,972
- 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))
- rs401681
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.323
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5413
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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