chr22:37462936:A>T Detail (hg19) (TMPRSS6)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr22:37,462,936-37,462,936 |
hg38 | chr22:37,066,896-37,066,896 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_153609.3:c.2180T>A | NP_705837.1:p.Val727Asp |
NM_001289001.1:c.2180T>A | NP_001275930.1:p.Val727Asp | |
NM_001289000.1:c.2246T>A | NP_001275929.1:p.Val749Asp |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:<0.001 |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
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 |
---|---|---|---|---|---|
0.007 | Hereditary hemochromatosis | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... | BeFree | 25085015 | Detail |
<0.001 | Leukemia, Lymphocytic, Acute, L1 | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... | BeFree | 25085015 | Detail |
<0.001 | Leukemia, Lymphocytic, Acute, L1 | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... | BeFree | 25085015 | Detail |
<0.001 | Leukemia, Lymphocytic, Acute, L1 | Using a multi-ethnic sample of cases and controls from Houston, TX, we examined ... | BeFree | 25085015 | Detail |
0.004 | Iron deficiency | We sought to identify relationships of TMPRSS6 K253E, A736V, and Y739Y to iron, ... | BeFree | 22265928 | Detail |
0.003 | iron deficiency anemia | To evaluate the association of genetic variants in genes involved in iron delive... | BeFree | 22323359 | Detail |
<0.001 | Non-alcoholic Fatty Liver Disease | The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic ... | BeFree | 23144979 | Detail |
<0.001 | thalassemia | These results indicate that TMPRSS6 polymorphisms are more frequent in subjects ... | BeFree | 25557470 | Detail |
0.205 | Hereditary hemochromatosis | In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels... | BeFree | 23433094 | Detail |
0.003 | anemia | In 545 children below 5 years of age from rural southern Rwanda, we assessed the... | BeFree | 24175968 | Detail |
0.003 | anemia | In particular, the V736A TMPRSS6 polymorphism was associated to moderately lower... | BeFree | 25557470 | Detail |
<0.001 | Hereditary hemochromatosis | Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expressi... | BeFree | 22885719 | Detail |
0.122 | Hemoglobin Adverse Event | [Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] | GAD | 19862010 | Detail |
0.122 | Hemoglobin Adverse Event | Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. | GWASCAT | 19862010 | Detail |
0.122 | Finding of Mean Corpuscular Hemoglobin | GWAS of blood cell traits identifies novel associated loci and epistatic interac... | GWASCAT | 23263863 | Detail |
0.133 | Hereditary hemochromatosis | In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels... | BeFree | 23433094 | Detail |
0.122 | Finding of Mean Corpuscular Hemoglobin | Genome-wide association study of hematological and biochemical traits in a Japan... | GWASCAT | 20139978 | Detail |
0.170 | Iron Overload | The p.Ala736Val TMPRSS6 variant influences iron metabolism regulating the transc... | BeFree | 23144979 | Detail |
0.123 | iron deficiency anemia | TMPRSS6 rs855791 polymorphism influences the susceptibility to iron deficiency a... | BeFree | 24782651 | Detail |
<0.001 | Hereditary hemochromatosis | In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels... | BeFree | 23433094 | Detail |
<0.001 | Iron Overload | The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic ... | BeFree | 23144979 | Detail |
0.122 | Hemoglobin Adverse Event | Genome-wide association study identifies variants in TMPRSS6 associated with hem... | GWASCAT | 19820698 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... | DisGeNET | Detail |
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... | DisGeNET | Detail |
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... | DisGeNET | Detail |
Using a multi-ethnic sample of cases and controls from Houston, TX, we examined two HFE variants (rs... | DisGeNET | Detail |
We sought to identify relationships of TMPRSS6 K253E, A736V, and Y739Y to iron, erythrocyte, and pic... | DisGeNET | Detail |
To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regu... | DisGeNET | Detail |
The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease. | DisGeNET | Detail |
These results indicate that TMPRSS6 polymorphisms are more frequent in subjects with persistent IDA ... | DisGeNET | Detail |
In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels in individuals posi... | DisGeNET | Detail |
In 545 children below 5 years of age from rural southern Rwanda, we assessed the role of iron defici... | DisGeNET | Detail |
In particular, the V736A TMPRSS6 polymorphism was associated to moderately lower hemoglobin, mean co... | DisGeNET | Detail |
Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hem... | DisGeNET | Detail |
[Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.] | DisGeNET | Detail |
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. | DisGeNET | Detail |
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian a... | DisGeNET | Detail |
In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels in individuals posi... | DisGeNET | Detail |
Genome-wide association study of hematological and biochemical traits in a Japanese population. | DisGeNET | Detail |
The p.Ala736Val TMPRSS6 variant influences iron metabolism regulating the transcription of the hepat... | DisGeNET | Detail |
TMPRSS6 rs855791 polymorphism influences the susceptibility to iron deficiency anemia in women at re... | DisGeNET | Detail |
In CHD patients, the A736V TMPRSS6 polymorphism influenced serum hepcidin levels in individuals posi... | DisGeNET | Detail |
The A736V TMPRSS6 polymorphism influences hepatic iron overload in nonalcoholic fatty liver disease. | DisGeNET | Detail |
Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. | DisGeNET | 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
- -
- Genome
- hg19
- Position
- chr22:37,462,936-37,462,936
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1207
- Mean of sample read depth (HGVD)
- 102.83
- Standard deviation of sample read depth (HGVD)
- 48.34
- Number of reference allele (HGVD)
- 1324
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 7.547169811320754E-4
- Gene Symbol (HGVD)
- TMPRSS6
- East Asian Chromosome Counts (ExAC)
- 8574
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3326335432703523E-4
- Chromosome Counts in All Race (ExAC)
- 120428
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.6607433487228882E-5
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