chr11:67353579:C>T Detail (hg19) (GSTP1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:67,353,579-67,353,579 |
| hg38 | chr11:67,586,108-67,586,108 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:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
1997-04-11 | no assertion criteria provided | GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE C |
germline
|
Detail |
|
Benign
|
2021-06-09 | criteria provided, single submitter | not provided |
germline
|
Detail |
association
|
2022-07-05 | no assertion criteria provided | Pulmonary disease, chronic obstructive, susceptibility to |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.034 | Malignant neoplasm of esophagus | The 341C/T polymorphism in the GSTP1 gene is associated with increased risk of o... | BeFree | 20540773 | Detail |
| 0.266 | asthma | GSTP1 rs1138272 and TNF rs1800629 SNPs were associated with asthma and wheeze, r... | BeFree | 24465030 | Detail |
| 0.016 | Malignant neoplasm of lung | In a population-based case-cohort study where cases and the subcohort sample wer... | BeFree | 15069685 | Detail |
| 0.016 | Malignant neoplasm of lung | The risk of lung cancer is not strongly associated with the I105V and A114V poly... | BeFree | 16509765 | Detail |
| <0.001 | multiple sclerosis | The results present the first evidence on significantly higher frequency of GSTP... | BeFree | 25231845 | Detail |
| 0.012 | Carcinoma of lung | In a population-based case-cohort study where cases and the subcohort sample wer... | BeFree | 15069685 | Detail |
| 0.002 | Wheezing | GSTP1 rs1138272 and TNF rs1800629 SNPs were associated with asthma and wheeze, r... | BeFree | 24465030 | Detail |
| 0.012 | Carcinoma of lung | The risk of lung cancer is not strongly associated with the I105V and A114V poly... | BeFree | 16509765 | Detail |
| <0.001 | Malignant neoplasm of brain | Papers were included if they were observational studies investigating the influe... | BeFree | 16030117 | Detail |
| 0.002 | Carcinoma of lung | The risk of lung cancer is not strongly associated with the I105V and A114V poly... | BeFree | 16509765 | Detail |
| 0.003 | Adenoma of large intestine | Although with modest limitations and biases, this metaanalysis suggests that EPH... | BeFree | 22161138 | Detail |
| 0.224 | asthma | Children carrying GSTP1 rs1138272 or rs1695 minor alleles may constitute a susce... | BeFree | 24465030 | Detail |
| 0.131 | Glioma | However, the significant risk elevation is present between GSTP1 A114V genotype ... | BeFree | 23079710 | Detail |
| 0.002 | Carcinoma of lung | In a population-based case-cohort study where cases and the subcohort sample wer... | BeFree | 15069685 | Detail |
| 0.092 | Malignant neoplasm of lung | The risk of lung cancer is not strongly associated with the I105V and A114V poly... | BeFree | 16509765 | Detail |
| 0.002 | Wheezing | GSTP1 rs1138272 and TNF rs1800629 SNPs were associated with asthma and wheeze, r... | BeFree | 24465030 | Detail |
| <0.001 | Malignant neoplasm of brain | Papers were included if they were observational studies investigating the influe... | BeFree | 16030117 | Detail |
| 0.012 | melanoma | No significant effect of null GSTM1 allele and GSTP1 variants (p.I105V, p.A114V)... | BeFree | 19484507 | Detail |
| 0.092 | Malignant neoplasm of lung | In a population-based case-cohort study where cases and the subcohort sample wer... | BeFree | 15069685 | Detail |
| <0.001 | Adenoma of large intestine | Although with modest limitations and biases, this metaanalysis suggests that EPH... | BeFree | 22161138 | Detail |
| 0.011 | melanoma | No significant effect of null GSTM1 allele and GSTP1 variants (p.I105V, p.A114V)... | BeFree | 19484507 | Detail |
| 0.001 | Adenoma of large intestine | Although with modest limitations and biases, this metaanalysis suggests that EPH... | BeFree | 22161138 | Detail |
| 0.008 | Squamous cell carcinoma of the head and neck | We hypothesized that GSTM1 null, GSTT1 null, GSTP1 Ile(105)Val, and GSTP1 Ala(11... | BeFree | 19401526 | Detail |
| 0.002 | Non-small cell lung carcinoma | In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile1... | BeFree | 20845989 | Detail |
| <0.001 | Non-small cell lung carcinoma | In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile1... | BeFree | 20845989 | Detail |
| 0.006 | Non-small cell lung carcinoma | In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile1... | BeFree | 20845989 | Detail |
| <0.001 | Non-small cell lung carcinoma | In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile1... | BeFree | 20845989 | Detail |
| 0.008 | Malignant neoplasm of prostate | To investigate this, we studied the association between prostate cancer and smok... | BeFree | 16614120 | Detail |
| 0.081 | Malignant neoplasm of prostate | To investigate this, we studied the association between prostate cancer and smok... | BeFree | 16614120 | Detail |
| 0.010 | prostate carcinoma | To investigate this, we studied the association between prostate cancer and smok... | BeFree | 16614120 | Detail |
| 0.002 | Non-small cell lung carcinoma | In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile1... | BeFree | 20845989 | Detail |
| 0.006 | prostate carcinoma | To investigate this, we studied the association between prostate cancer and smok... | BeFree | 16614120 | Detail |
| 0.026 | prostate carcinoma | To investigate this, we studied the association between prostate cancer and smok... | BeFree | 16614120 | Detail |
| 0.075 | Malignant neoplasm of prostate | To investigate this, we studied the association between prostate cancer and smok... | BeFree | 16614120 | Detail |
| 0.087 | Malignant neoplasm of prostate | To investigate this, we studied the association between prostate cancer and smok... | BeFree | 16614120 | Detail |
| 0.001 | prostate carcinoma | To investigate this, we studied the association between prostate cancer and smok... | BeFree | 16614120 | Detail |
| 0.045 | Malignant neoplasm of prostate | In the present study we investigated the association of a number of polymorphic ... | BeFree | 24610081 | Detail |
| 0.004 | prostate carcinoma | In the present study we investigated the association of a number of polymorphic ... | BeFree | 24610081 | Detail |
| 0.005 | prostate carcinoma | In the present study we investigated the association of a number of polymorphic ... | BeFree | 24610081 | Detail |
| 0.013 | Malignant neoplasm of prostate | In the present study we investigated the association of a number of polymorphic ... | BeFree | 24610081 | Detail |
| 0.087 | Malignant neoplasm of prostate | In the present study we investigated the association of a number of polymorphic ... | BeFree | 24610081 | Detail |
| 0.026 | prostate carcinoma | In the present study we investigated the association of a number of polymorphic ... | BeFree | 24610081 | Detail |
| 0.006 | Leukoplakia | We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... | BeFree | 21741876 | Detail |
| 0.006 | Leukoplakia | We examined the association of 13 variants in eight genes (rs4646903, rs2031920,... | BeFree | 21741876 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000852.4(GSTP1):c.[313A>G;341C>T] AND GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE C | ClinVar | Detail |
| NM_000852.4(GSTP1):c.341C>T (p.Ala114Val) AND not provided | ClinVar | Detail |
| NM_000852.4(GSTP1):c.341C>T (p.Ala114Val) AND Pulmonary disease, chronic obstructive, susceptibility... | ClinVar | Detail |
| The 341C/T polymorphism in the GSTP1 gene is associated with increased risk of oesophageal cancer. | DisGeNET | Detail |
| GSTP1 rs1138272 and TNF rs1800629 SNPs were associated with asthma and wheeze, respectively. | DisGeNET | Detail |
| In a population-based case-cohort study where cases and the subcohort sample were matched on duratio... | DisGeNET | Detail |
| The risk of lung cancer is not strongly associated with the I105V and A114V polymorphisms in the GST... | DisGeNET | Detail |
| The results present the first evidence on significantly higher frequency of GSTP1 C341T polymorphism... | DisGeNET | Detail |
| In a population-based case-cohort study where cases and the subcohort sample were matched on duratio... | DisGeNET | Detail |
| GSTP1 rs1138272 and TNF rs1800629 SNPs were associated with asthma and wheeze, respectively. | DisGeNET | Detail |
| The risk of lung cancer is not strongly associated with the I105V and A114V polymorphisms in the GST... | DisGeNET | Detail |
| Papers were included if they were observational studies investigating the influence of GSTM1, GSTT1,... | DisGeNET | Detail |
| The risk of lung cancer is not strongly associated with the I105V and A114V polymorphisms in the GST... | DisGeNET | Detail |
| Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His... | DisGeNET | Detail |
| Children carrying GSTP1 rs1138272 or rs1695 minor alleles may constitute a susceptible population at... | DisGeNET | Detail |
| However, the significant risk elevation is present between GSTP1 A114V genotype and other histopatho... | DisGeNET | Detail |
| In a population-based case-cohort study where cases and the subcohort sample were matched on duratio... | DisGeNET | Detail |
| The risk of lung cancer is not strongly associated with the I105V and A114V polymorphisms in the GST... | DisGeNET | Detail |
| GSTP1 rs1138272 and TNF rs1800629 SNPs were associated with asthma and wheeze, respectively. | DisGeNET | Detail |
| Papers were included if they were observational studies investigating the influence of GSTM1, GSTT1,... | DisGeNET | Detail |
| No significant effect of null GSTM1 allele and GSTP1 variants (p.I105V, p.A114V) on melanoma risk wa... | DisGeNET | Detail |
| In a population-based case-cohort study where cases and the subcohort sample were matched on duratio... | DisGeNET | Detail |
| Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His... | DisGeNET | Detail |
| No significant effect of null GSTM1 allele and GSTP1 variants (p.I105V, p.A114V) on melanoma risk wa... | DisGeNET | Detail |
| Although with modest limitations and biases, this metaanalysis suggests that EPHX1 Tyr113His and His... | DisGeNET | Detail |
| We hypothesized that GSTM1 null, GSTT1 null, GSTP1 Ile(105)Val, and GSTP1 Ala(114)Val polymorphisms ... | DisGeNET | Detail |
| In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile105Val) and exon 6(Al... | DisGeNET | Detail |
| In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile105Val) and exon 6(Al... | DisGeNET | Detail |
| In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile105Val) and exon 6(Al... | DisGeNET | Detail |
| In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile105Val) and exon 6(Al... | DisGeNET | Detail |
| To investigate this, we studied the association between prostate cancer and smoking, as well as the ... | DisGeNET | Detail |
| To investigate this, we studied the association between prostate cancer and smoking, as well as the ... | DisGeNET | Detail |
| To investigate this, we studied the association between prostate cancer and smoking, as well as the ... | DisGeNET | Detail |
| In this study, CYP1A1 (Ile462Val), CYP1B1(Asn453Ser), GST M1, GSTP1 exon 5 (Ile105Val) and exon 6(Al... | DisGeNET | Detail |
| To investigate this, we studied the association between prostate cancer and smoking, as well as the ... | DisGeNET | Detail |
| To investigate this, we studied the association between prostate cancer and smoking, as well as the ... | DisGeNET | Detail |
| To investigate this, we studied the association between prostate cancer and smoking, as well as the ... | DisGeNET | Detail |
| To investigate this, we studied the association between prostate cancer and smoking, as well as the ... | DisGeNET | Detail |
| To investigate this, we studied the association between prostate cancer and smoking, as well as the ... | DisGeNET | Detail |
| In the present study we investigated the association of a number of polymorphic changes in antioxida... | DisGeNET | Detail |
| In the present study we investigated the association of a number of polymorphic changes in antioxida... | DisGeNET | Detail |
| In the present study we investigated the association of a number of polymorphic changes in antioxida... | DisGeNET | Detail |
| In the present study we investigated the association of a number of polymorphic changes in antioxida... | DisGeNET | Detail |
| In the present study we investigated the association of a number of polymorphic changes in antioxida... | DisGeNET | Detail |
| In the present study we investigated the association of a number of polymorphic changes in antioxida... | DisGeNET | Detail |
| We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... | DisGeNET | Detail |
| We examined the association of 13 variants in eight genes (rs4646903, rs2031920, rs3813867, GSTM1 nu... | DisGeNET | Detail |
| Non melanoma specific model (ovarian cancer) | MMMP | 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
- rs1138272 dbSNP
- Genome
- hg19
- Position
- chr11:67,353,579-67,353,579
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8450
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 3.5502958579881655E-4
- Chromosome Counts in All Race (ExAC)
- 116238
- Allele Counts in All Race (ExAC)
- 7152
- Heterozygous Counts in All Race (ExAC)
- 6624
- Homozygous Counts in All Race (ExAC)
- 264
- Allele Frequency in All Race (ExAC)
- 0.061528932018789034
- MMMP State (molecule) (MMMP)
- polymorphism rs1138272
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