chr7:127881349:G>A Detail (hg19) (LEP, LOC106728418)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:127,881,349-127,881,349 |
| hg38 | chr7:128,241,296-128,241,296 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000230.2:c.-39G>A | |
| Ensemble | ENST00000308868.5:c.-39G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.167 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
Likely benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | Obesity due to congenital leptin deficiency |
germline
|
Detail |
|
Likely benign
|
2016-06-14 | criteria provided, single submitter | Monogenic Non-Syndromic Obesity |
germline
|
Detail |
|
Benign
|
2020-12-21 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | premature menopause | Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) we... | BeFree | 22537818 | Detail |
| <0.001 | premature menopause | Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) we... | BeFree | 22537818 | Detail |
| 0.003 | atherosclerosis | LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease... | BeFree | 21385539 | Detail |
| 0.008 | lymphoma | These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may de... | BeFree | 24845032 | Detail |
| 0.009 | colorectal cancer | These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may de... | BeFree | 24845032 | Detail |
| 0.010 | Cardiovascular Diseases | Lack of association between LEP rs2167270 (19 G>A) polymorphism and disease s... | BeFree | 21385539 | Detail |
| 0.004 | colorectal carcinoma | These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may de... | BeFree | 24845032 | Detail |
| <0.001 | colon carcinoma | We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 ge... | BeFree | 18059035 | Detail |
| <0.001 | Malignant tumor of colon | We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 ge... | BeFree | 18059035 | Detail |
| 0.003 | arteriosclerosis | LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease... | BeFree | 21385539 | Detail |
| 0.004 | rheumatoid arthritis | Lack of association between LEP rs2167270 (19 G>A) polymorphism and disease s... | BeFree | 21385539 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000230.3(LEP):c.-39G>A AND Obesity due to congenital leptin deficiency | ClinVar | Detail |
| NM_000230.3(LEP):c.-39G>A AND Monogenic Non-Syndromic Obesity | ClinVar | Detail |
| NM_000230.3(LEP):c.-39G>A AND not provided | ClinVar | Detail |
| Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) were associated with e... | DisGeNET | Detail |
| Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) were associated with e... | DisGeNET | Detail |
| LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or c... | DisGeNET | Detail |
| These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptib... | DisGeNET | Detail |
| These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptib... | DisGeNET | Detail |
| Lack of association between LEP rs2167270 (19 G>A) polymorphism and disease susceptibility and ca... | DisGeNET | Detail |
| These findings suggest that the LEP A19G (rs2167270) genetic polymorphism may decrease the susceptib... | DisGeNET | Detail |
| We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 genotype (OR 0.79 95% ... | DisGeNET | Detail |
| We observed a slight reduction in colon cancer risk with the AA LEP rs2167270 genotype (OR 0.79 95% ... | DisGeNET | Detail |
| LEP rs2167270 polymorphism does not seem to be a genetic risk factor for disease susceptibility or c... | DisGeNET | Detail |
| Lack of association between LEP rs2167270 (19 G>A) polymorphism and disease susceptibility and ca... | 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
- -
- dbSNP
- rs2167270 dbSNP
- Genome
- hg19
- Position
- chr7:127,881,349-127,881,349
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs2167270
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1667
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2793
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
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