chr19:41354391:A>G Detail (hg38) (TGFB1, B9D2, TMEM91)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:41,860,296-41,860,296 View the variant detail on this assembly version. |
| hg38 | chr19:41,354,391-41,354,391 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000539627.5:c.-30+3189A>G | |
| ENST00000604123.5:c.142+76A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.493 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2024-01-31 | criteria provided, single submitter | Familial aplasia of the vermis,Meckel-Gruber syndrome |
germline
|
Detail |
|
Benign
|
2024-01-31 | criteria provided, single submitter | Familial aplasia of the vermis,Meckel-Gruber syndrome |
germline
|
Detail |
|
Benign
|
2020-06-30 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | aortic aneurysm | In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and A... | BeFree | 26027897 | Detail |
| 0.001 | aortic aneurysm | In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and A... | BeFree | 26027897 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| 0.003 | Migraine Disorders | Regarding any history of migraine, the multivariable-adjusted odds ratios (95% c... | BeFree | 19559392 | Detail |
| 0.123 | Migraine Disorders | Regarding any history of migraine, the multivariable-adjusted odds ratios (95% c... | BeFree | 19559392 | Detail |
| 0.009 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| 0.139 | Migraine Disorders | Regarding any history of migraine, the multivariable-adjusted odds ratios (95% c... | BeFree | 19559392 | Detail |
| <0.001 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | migraine with aura | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | Common Migraine | Among active migraine with aura, the odds ratios (95% confidence intervals) were... | BeFree | 19559392 | Detail |
| <0.001 | Thickening of pleura | The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs... | BeFree | 24142982 | Detail |
| <0.001 | Ischemic stroke | In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108,... | BeFree | 22769019 | Detail |
| 0.150 | colorectal cancer | Large-scale genetic study in East Asians identifies six new loci associated with... | GWASCAT | 24836286 | Detail |
| <0.001 | Thickening of pleura | The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs... | BeFree | 24142982 | Detail |
| 0.126 | congenital heart defects | To evaluate the impact of transforming growth factor-β1 (TGFβ1), TGFβ receptor I... | BeFree | 24443223 | Detail |
| 0.002 | Malignant tumor of colon | Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio... | BeFree | 21068203 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108,... | BeFree | 22769019 | Detail |
| 0.006 | colon carcinoma | Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio... | BeFree | 21068203 | Detail |
| 0.120 | colorectal cancer | Large-scale genetic study in East Asians identifies six new loci associated with... | GWASCAT | 24836286 | Detail |
| <0.001 | Thickening of pleura | The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs... | BeFree | 24142982 | Detail |
| 0.123 | Migraine Disorders | [Variants in TNF, CCR2, TGFB1, NOS3, and IL9 were found to be associated with mi... | GAD | 19559392 | Detail |
| 0.019 | breast carcinoma | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | Malignant neoplasm of breast | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | breast carcinoma | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| 0.090 | Malignant neoplasm of breast | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| 0.005 | Malignant neoplasm of breast | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | breast carcinoma | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | Malignant neoplasm of breast | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
| <0.001 | breast carcinoma | Multivariate logistic regression found SNPs in genes important for T helper type... | BeFree | 23996684 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000660.6(TGFB1):c.-1347T>C AND multiple conditions | ClinVar | Detail |
| NM_000660.6(TGFB1):c.-1347T>C AND multiple conditions | ClinVar | Detail |
| NM_000660.6(TGFB1):c.-1347T>C AND not provided | ClinVar | Detail |
| In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and AGTR1 rs12695895-T mi... | DisGeNET | Detail |
| In this study of the Chinese population, homozygosity of TGFB1 rs1800469-T and AGTR1 rs12695895-T mi... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Regarding any history of migraine, the multivariable-adjusted odds ratios (95% confidence intervals)... | DisGeNET | Detail |
| Regarding any history of migraine, the multivariable-adjusted odds ratios (95% confidence intervals)... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Regarding any history of migraine, the multivariable-adjusted odds ratios (95% confidence intervals)... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| Among active migraine with aura, the odds ratios (95% confidence intervals) were 1.35 (1.0 to 1.81) ... | DisGeNET | Detail |
| The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs1800470 SNPs were as... | DisGeNET | Detail |
| In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LT... | DisGeNET | Detail |
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer r... | DisGeNET | Detail |
| The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs1800470 SNPs were as... | DisGeNET | Detail |
| To evaluate the impact of transforming growth factor-β1 (TGFβ1), TGFβ receptor II (TGFβR2) and vascu... | DisGeNET | Detail |
| Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio (OR) = 0.65 and 1.4... | DisGeNET | Detail |
| In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LT... | DisGeNET | Detail |
| Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio (OR) = 0.65 and 1.4... | DisGeNET | Detail |
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer r... | DisGeNET | Detail |
| The TIMP2 rs2277698 SNP and a haplotype consisting of the TGFB1 rs1800469 and rs1800470 SNPs were as... | DisGeNET | Detail |
| [Variants in TNF, CCR2, TGFB1, NOS3, and IL9 were found to be associated with migraine but did not r... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
| Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (I... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1800469 dbSNP
- Genome
- hg38
- Position
- chr19:41,354,391-41,354,391
- 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))
- rs1800469
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4931
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8262
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16754
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