chr1:65592830:A>G Detail (hg38) (LEPR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:66,058,513-66,058,513 View the variant detail on this assembly version. |
| hg38 | chr1:65,592,830-65,592,830 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001198687.1:c.668A>G | NP_001185616.1:p.Gln223Arg |
| NM_001198688.1:c.668A>G | NP_001185617.1:p.Gln223Arg | |
| NM_002303.5:c.668A>G | NP_002294.2:p.Gln223Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.871 |
| ToMMo:0.864 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.878 |
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
|
2007-11-01 | no assertion criteria provided | LEPTIN RECEPTOR POLYMORPHISM |
germline
|
Detail |
|
Benign
|
2016-06-14 | criteria provided, single submitter | Monogenic Non-Syndromic Obesity |
germline
|
Detail |
|
Benign
|
2016-06-14 | criteria provided, single submitter | Obesity due to leptin receptor gene deficiency |
germline
|
Detail |
|
Benign
|
2017-07-26 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Benign
|
2024-01-31 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Alcoholic Steatohepatitis | We observed a significant association between the LEPR rs1137100 and rs1137101 w... | BeFree | 23278404 | Detail |
| <0.001 | Conventional (Clear Cell) Renal Cell Carcinoma | Association of leptin receptor Lys109Arg and Gln223Arg polymorphisms with increa... | BeFree | 24935373 | Detail |
| 0.439 | obesity | Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP... | BeFree | 15972940 | Detail |
| 0.124 | Overweight | Three LEPR polymorphisms (Lys(109)Arg, Gln(223)Arg, and Lys(656)Asn) were typed ... | BeFree | 11443193 | Detail |
| <0.001 | Non-alcoholic Fatty Liver Disease | We observed a significant association between the LEPR rs1137100 and rs1137101 w... | BeFree | 23278404 | Detail |
| <0.001 | Alcoholic Steatohepatitis | We observed a significant association between the LEPR rs1137100 and rs1137101 w... | BeFree | 23278404 | Detail |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin ... | BeFree | 21631924 | Detail |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin ... | BeFree | 21631924 | Detail |
| 0.641 | obesity | This study examined the association of a promoter polymorphism of the leptin gen... | BeFree | 20183928 | Detail |
| 0.641 | obesity | Three non-synonymous single nucleotide polymorphisms (Q223R, K109R and K656N) of... | BeFree | 22028824 | Detail |
| 0.006 | Impaired glucose tolerance | Two polymorphisms (Lys109Arg, Gln223Arg) in the extracellular domain of the lept... | BeFree | 15997246 | Detail |
| 0.641 | obesity | Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP... | BeFree | 15972940 | Detail |
| 0.003 | atherosclerosis | Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early ... | BeFree | 20874424 | Detail |
| 0.002 | obesity | Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP... | BeFree | 15972940 | Detail |
| <0.001 | arteriosclerosis | Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early ... | BeFree | 20874424 | Detail |
| 0.440 | obesity | This study examined the association of a promoter polymorphism of the leptin gen... | BeFree | 20183928 | Detail |
| 0.440 | obesity | Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms ... | BeFree | 22734460 | Detail |
| 0.641 | obesity | Association of leptin receptor gene Q223R polymorphism on lipid profiles in comp... | BeFree | 23954230 | Detail |
| <0.001 | Malignant neoplasm of mouth | Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with incr... | BeFree | 18855010 | Detail |
| <0.001 | Alzheimer Disease, Late Onset | Lack of association between the leptin receptor gene (LEPR) Gln223Arg polymorphi... | BeFree | 20220325 | Detail |
| 0.240 | Hypertensive disease | Our results suggest that the Gln223Arg polymorphism of the leptin receptor is si... | BeFree | 24485307 | Detail |
| 0.007 | breast carcinoma | The association between LEPR Q223R polymorphisms and breast cancer risk. | BeFree | 25863476 | Detail |
| 0.440 | obesity | All the individuals were genotyped for the following subset of polymorphisms in ... | BeFree | 18704460 | Detail |
| <0.001 | amebiasis | Humans with the Q223R leptin receptor mutation have increased susceptibility to ... | BeFree | 25516614 | Detail |
| 0.045 | breast carcinoma | And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, ... | BeFree | 18668212 | Detail |
| <0.001 | Malignant neoplasm of mouth | Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with incr... | BeFree | 18855010 | Detail |
| 0.641 | obesity | Obesity-related genetic factors including common polymorphisms in the leptin gen... | BeFree | 15159310 | Detail |
| 0.289 | obesity | All the individuals were genotyped for the following subset of polymorphisms in ... | BeFree | 18704460 | Detail |
| 0.641 | obesity | There was a trend found among the majority of homozygous A and G variants in LEP... | BeFree | 18955751 | Detail |
| 0.641 | obesity | p.Q223R leptin receptor polymorphism associated with obesity in Brazilian multie... | BeFree | 16788891 | Detail |
| 0.124 | Overweight | There was a trend found among the majority of homozygous A and G variants in LEP... | BeFree | 18955751 | Detail |
| <0.001 | Amebic colitis | Humans with the Q223R leptin receptor mutation have increased susceptibility to ... | BeFree | 25516614 | Detail |
| 0.080 | Left Ventricular Hypertrophy | Our results suggest that the Gln223Arg polymorphism of the leptin receptor is si... | BeFree | 24485307 | Detail |
| 0.440 | obesity | Therefore, the present study aimed to evaluate the relationships among the gene ... | BeFree | 26255942 | Detail |
| 0.641 | obesity | The haplotype combination of LEP c.-2548G>A and LEPR p.Q223R variants was rel... | BeFree | 18273796 | Detail |
| 0.024 | obesity | All the individuals were genotyped for the following subset of polymorphisms in ... | BeFree | 18704460 | Detail |
| <0.001 | acute leukemia | The aim of the study was to evaluate bone marrow and peripheral blood leptin lev... | BeFree | 17072067 | Detail |
| 0.001 | Malignant neoplasm of breast | And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, ... | BeFree | 18668212 | Detail |
| 0.001 | Overweight | LEPR rs1137101(A) conferred higher risk for altered insulin, and HOMA-IR in over... | BeFree | 25923461 | Detail |
| 0.641 | obesity | The Q223R polymorphism of the leptin receptor gene is significantly associated w... | BeFree | 11549688 | Detail |
| 0.641 | obesity | A general linear model including leptin as dependant variable and age, BMI, meno... | BeFree | 19427969 | Detail |
| 0.641 | obesity | Association of Gln223 Arg polymorphism of the leptin receptor gene with indicato... | BeFree | 24985001 | Detail |
| <0.001 | acute leukemia | The aim of the study was to evaluate bone marrow and peripheral blood leptin lev... | BeFree | 17072067 | Detail |
| <0.001 | Psychotic Disorders | Taken together, the results of our study show that the LEPR Q223R polymorphism m... | BeFree | 19142102 | Detail |
| 0.641 | obesity | All the individuals were genotyped for the following subset of polymorphisms in ... | BeFree | 18704460 | Detail |
| 0.047 | Malignant neoplasm of breast | And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, ... | BeFree | 18668212 | Detail |
| <0.001 | Liver Abscess, Amebic | We explored the distribution of Q223R mutation in leptin receptor gene of amoebi... | BeFree | 25114924 | Detail |
| <0.001 | Psychotic Disorders | The LEPR Q223R polymorphism may be a risk factor for obesity in women with a psy... | BeFree | 21510767 | Detail |
| 0.641 | obesity | Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms ... | BeFree | 22734460 | Detail |
| <0.001 | Malignant neoplasm of breast | And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, ... | BeFree | 18668212 | Detail |
| 0.641 | obesity | Association analysis of the Gln223Arg polymorphism in the human leptin receptor ... | BeFree | 15660115 | Detail |
| 0.012 | Metabolic syndrome X | Association between the Gln223Arg polymorphism of the leptin receptor and metabo... | BeFree | 19344216 | Detail |
| 0.132 | Hypertensive disease | Our results suggest that the Gln223Arg polymorphism of the leptin receptor is si... | BeFree | 24485307 | Detail |
| 0.217 | Metabolic syndrome X | Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms ... | BeFree | 22734460 | Detail |
| 0.440 | obesity | The aim of this study was to investigate the association of leptin receptor gene... | BeFree | 23954230 | Detail |
| 0.151 | obesity | Therefore, the present study aimed to evaluate the relationships among the gene ... | BeFree | 26255942 | Detail |
| <0.001 | Lip and oral cavity carcinoma | Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with incr... | BeFree | 18855010 | Detail |
| 0.003 | Heart failure | Multivariate regression analyses revealed an approximately 2-fold risk for NYHA ... | BeFree | 19337797 | Detail |
| 0.641 | obesity | The genotype and allele frequencies of the LEPR Gln223Arg polymorphism were sign... | BeFree | 12187394 | Detail |
| 0.440 | obesity | There was a trend found among the majority of homozygous A and G variants in LEP... | BeFree | 18955751 | Detail |
| <0.001 | Hyperlipidemia, Familial Combined | The Gln223Arg polymorphism in the leptin receptor is associated with familial co... | BeFree | 16432543 | Detail |
| 0.013 | obesity | Therefore, the present study aimed to evaluate the relationships among the gene ... | BeFree | 26255942 | Detail |
| 0.024 | Malignant neoplasm of breast | Leptin receptor Gln223Arg polymorphism and breast cancer risk in Nigerian women:... | BeFree | 19017403 | Detail |
| <0.001 | Lip and oral cavity carcinoma | Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with incr... | BeFree | 18855010 | Detail |
| <0.001 | Hunger | Individuals with a low postprandial decrease in hunger were overrepresented amon... | BeFree | 19793853 | Detail |
| 0.007 | breast carcinoma | Leptin receptor Gln223Arg polymorphism and breast cancer risk in Nigerian women:... | BeFree | 19017403 | Detail |
| <0.001 | Premenopausal breast cancer | Our results suggest that the LEPR Gln223Arg polymorphism in the extracellular do... | BeFree | 19017403 | Detail |
| <0.001 | diarrhea | The Q223R leptin receptor mutation results in increased susceptibility of childr... | BeFree | 25516614 | Detail |
| 0.008 | gynecomastia | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2... | BeFree | 24625355 | Detail |
| <0.001 | Psychotic Disorders | Taken together, the results of our study show that the LEPR Q223R polymorphism m... | BeFree | 19142102 | Detail |
| 0.641 | obesity | In children with obesity we did not observe association of the LEPR Gln223Arg ge... | BeFree | 20156757 | Detail |
| <0.001 | eclampsia | In this retrospective case-control study, 103 patients with PIH [gestational hyp... | BeFree | 20070288 | Detail |
| 0.124 | Overweight | The genotype and allele frequencies of the LEPR Gln223Arg polymorphism were sign... | BeFree | 12187394 | Detail |
| <0.001 | breast carcinoma | And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, ... | BeFree | 18668212 | Detail |
| 0.641 | obesity | The LEPR Q223R polymorphism may be a risk factor for obesity in women with a psy... | BeFree | 21510767 | Detail |
| 0.641 | obesity | A tendency for the majority of homozygous A and G variants in LEP -2548 G/A and ... | BeFree | 18939509 | Detail |
| <0.001 | congestive heart failure | In subanalyses according to CHF etiology the LEPR Gln223Arg showed an independen... | BeFree | 19337797 | Detail |
| 0.001 | breast carcinoma | And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, ... | BeFree | 18668212 | Detail |
| 0.012 | Metabolic syndrome X | Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms ... | BeFree | 22734460 | Detail |
| 0.641 | obesity | Therefore, the present study aimed to evaluate the relationships among the gene ... | BeFree | 26255942 | Detail |
| <0.001 | gynecomastia | Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2... | BeFree | 24625355 | Detail |
| 0.024 | Malignant neoplasm of breast | The association between LEPR Q223R polymorphisms and breast cancer risk. | BeFree | 25863476 | Detail |
| 0.001 | eclampsia | In this retrospective case-control study, 103 patients with PIH [gestational hyp... | BeFree | 20070288 | Detail |
| 0.124 | Overweight | A tendency for the majority of homozygous A and G variants in LEP -2548 G/A and ... | BeFree | 18939509 | Detail |
| 0.011 | Overweight | Together, our findings suggest evidence for a two-locus interaction between the ... | BeFree | 21233811 | Detail |
| 0.335 | obesity | Together, our findings suggest evidence for a two-locus interaction between the ... | BeFree | 21233811 | Detail |
| 0.124 | Overweight | Together, our findings suggest evidence for a two-locus interaction between the ... | BeFree | 21233811 | Detail |
| <0.001 | congestive heart failure | The aim of this study was to investigate the possible associations of defined va... | BeFree | 19337797 | Detail |
| 0.001 | congestive heart failure | The aim of this study was to investigate the possible associations of defined va... | BeFree | 19337797 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) AND LEPTIN RECEPTOR POLYMORPHISM | ClinVar | Detail |
| NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) AND Monogenic Non-Syndromic Obesity | ClinVar | Detail |
| NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) AND Obesity due to leptin receptor gene deficiency | ClinVar | Detail |
| NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) AND not specified | ClinVar | Detail |
| NM_002303.6(LEPR):c.668A>G (p.Gln223Arg) AND not provided | ClinVar | Detail |
| We observed a significant association between the LEPR rs1137100 and rs1137101 with susceptibility t... | DisGeNET | Detail |
| Association of leptin receptor Lys109Arg and Gln223Arg polymorphisms with increased risk of clear ce... | DisGeNET | Detail |
| Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin r... | DisGeNET | Detail |
| Three LEPR polymorphisms (Lys(109)Arg, Gln(223)Arg, and Lys(656)Asn) were typed on genomic DNA of 35... | DisGeNET | Detail |
| We observed a significant association between the LEPR rs1137100 and rs1137101 with susceptibility t... | DisGeNET | Detail |
| We observed a significant association between the LEPR rs1137100 and rs1137101 with susceptibility t... | DisGeNET | Detail |
| Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin gene -18G > A and... | DisGeNET | Detail |
| Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin gene -18G > A and... | DisGeNET | Detail |
| This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs... | DisGeNET | Detail |
| Three non-synonymous single nucleotide polymorphisms (Q223R, K109R and K656N) of the leptin receptor... | DisGeNET | Detail |
| Two polymorphisms (Lys109Arg, Gln223Arg) in the extracellular domain of the leptin receptor predicte... | DisGeNET | Detail |
| Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin r... | DisGeNET | Detail |
| Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early atherosclerosis. | DisGeNET | Detail |
| Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin r... | DisGeNET | Detail |
| Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early atherosclerosis. | DisGeNET | Detail |
| This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs... | DisGeNET | Detail |
| Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms and obesity and meta... | DisGeNET | Detail |
| Association of leptin receptor gene Q223R polymorphism on lipid profiles in comparison study between... | DisGeNET | Detail |
| Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with increased risk for oral ... | DisGeNET | Detail |
| Lack of association between the leptin receptor gene (LEPR) Gln223Arg polymorphism and late-onset Al... | DisGeNET | Detail |
| Our results suggest that the Gln223Arg polymorphism of the leptin receptor is significantly associat... | DisGeNET | Detail |
| The association between LEPR Q223R polymorphisms and breast cancer risk. | DisGeNET | Detail |
| All the individuals were genotyped for the following subset of polymorphisms in obesity-related gene... | DisGeNET | Detail |
| Humans with the Q223R leptin receptor mutation have increased susceptibility to amebiasis, but the m... | DisGeNET | Detail |
| And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, AP... | DisGeNET | Detail |
| Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with increased risk for oral ... | DisGeNET | Detail |
| Obesity-related genetic factors including common polymorphisms in the leptin gene (LEP A19G and G-25... | DisGeNET | Detail |
| All the individuals were genotyped for the following subset of polymorphisms in obesity-related gene... | DisGeNET | Detail |
| There was a trend found among the majority of homozygous A and G variants in LEP -2548 G/A and LEPR ... | DisGeNET | Detail |
| p.Q223R leptin receptor polymorphism associated with obesity in Brazilian multiethnic subjects. | DisGeNET | Detail |
| There was a trend found among the majority of homozygous A and G variants in LEP -2548 G/A and LEPR ... | DisGeNET | Detail |
| Humans with the Q223R leptin receptor mutation have increased susceptibility to amebiasis, but the m... | DisGeNET | Detail |
| Our results suggest that the Gln223Arg polymorphism of the leptin receptor is significantly associat... | DisGeNET | Detail |
| Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... | DisGeNET | Detail |
| The haplotype combination of LEP c.-2548G>A and LEPR p.Q223R variants was related to a 58% increa... | DisGeNET | Detail |
| All the individuals were genotyped for the following subset of polymorphisms in obesity-related gene... | DisGeNET | Detail |
| The aim of the study was to evaluate bone marrow and peripheral blood leptin level and frequency of ... | DisGeNET | Detail |
| And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, AP... | DisGeNET | Detail |
| LEPR rs1137101(A) conferred higher risk for altered insulin, and HOMA-IR in overweight adolescents. | DisGeNET | Detail |
| The Q223R polymorphism of the leptin receptor gene is significantly associated with obesity and pred... | DisGeNET | Detail |
| A general linear model including leptin as dependant variable and age, BMI, menopausal status and ge... | DisGeNET | Detail |
| Association of Gln223 Arg polymorphism of the leptin receptor gene with indicators of energy expendi... | DisGeNET | Detail |
| The aim of the study was to evaluate bone marrow and peripheral blood leptin level and frequency of ... | DisGeNET | Detail |
| Taken together, the results of our study show that the LEPR Q223R polymorphism may be associated wit... | DisGeNET | Detail |
| All the individuals were genotyped for the following subset of polymorphisms in obesity-related gene... | DisGeNET | Detail |
| And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, AP... | DisGeNET | Detail |
| We explored the distribution of Q223R mutation in leptin receptor gene of amoebic liver abscess (ALA... | DisGeNET | Detail |
| The LEPR Q223R polymorphism may be a risk factor for obesity in women with a psychotic disorder trea... | DisGeNET | Detail |
| Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms and obesity and meta... | DisGeNET | Detail |
| And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, AP... | DisGeNET | Detail |
| Association analysis of the Gln223Arg polymorphism in the human leptin receptor gene, and traits rel... | DisGeNET | Detail |
| Association between the Gln223Arg polymorphism of the leptin receptor and metabolic syndrome in free... | DisGeNET | Detail |
| Our results suggest that the Gln223Arg polymorphism of the leptin receptor is significantly associat... | DisGeNET | Detail |
| Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms and obesity and meta... | DisGeNET | Detail |
| The aim of this study was to investigate the association of leptin receptor gene Q223R polymorphism ... | DisGeNET | Detail |
| Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... | DisGeNET | Detail |
| Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with increased risk for oral ... | DisGeNET | Detail |
| Multivariate regression analyses revealed an approximately 2-fold risk for NYHA class IV associated ... | DisGeNET | Detail |
| The genotype and allele frequencies of the LEPR Gln223Arg polymorphism were significantly different ... | DisGeNET | Detail |
| There was a trend found among the majority of homozygous A and G variants in LEP -2548 G/A and LEPR ... | DisGeNET | Detail |
| The Gln223Arg polymorphism in the leptin receptor is associated with familial combined hyperlipidemi... | DisGeNET | Detail |
| Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... | DisGeNET | Detail |
| Leptin receptor Gln223Arg polymorphism and breast cancer risk in Nigerian women: a case control stud... | DisGeNET | Detail |
| Association of leptin -2548G/A and leptin receptor Q223R polymorphisms with increased risk for oral ... | DisGeNET | Detail |
| Individuals with a low postprandial decrease in hunger were overrepresented among TA/AA (dominant), ... | DisGeNET | Detail |
| Leptin receptor Gln223Arg polymorphism and breast cancer risk in Nigerian women: a case control stud... | DisGeNET | Detail |
| Our results suggest that the LEPR Gln223Arg polymorphism in the extracellular domain of the LEPR rec... | DisGeNET | Detail |
| The Q223R leptin receptor mutation results in increased susceptibility of children and adults to E. ... | DisGeNET | Detail |
| Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (r... | DisGeNET | Detail |
| Taken together, the results of our study show that the LEPR Q223R polymorphism may be associated wit... | DisGeNET | Detail |
| In children with obesity we did not observe association of the LEPR Gln223Arg gene polymorphism with... | DisGeNET | Detail |
| In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 3... | DisGeNET | Detail |
| The genotype and allele frequencies of the LEPR Gln223Arg polymorphism were significantly different ... | DisGeNET | Detail |
| And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, AP... | DisGeNET | Detail |
| The LEPR Q223R polymorphism may be a risk factor for obesity in women with a psychotic disorder trea... | DisGeNET | Detail |
| A tendency for the majority of homozygous A and G variants in LEP -2548 G/A and LEPR 668 A/G was fou... | DisGeNET | Detail |
| In subanalyses according to CHF etiology the LEPR Gln223Arg showed an independent prediction role fo... | DisGeNET | Detail |
| And, it also suggested that LEPR gene Gln223Arg polymorphisms, elevated leptin, insulin, TG, FCH, AP... | DisGeNET | Detail |
| Relationship between leptin G2548A and leptin receptor Q223R gene polymorphisms and obesity and meta... | DisGeNET | Detail |
| Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... | DisGeNET | Detail |
| Thus, the aim of this study was to evaluate the relationships between CYP19 (rs2414096), ER alpha (r... | DisGeNET | Detail |
| The association between LEPR Q223R polymorphisms and breast cancer risk. | DisGeNET | Detail |
| In this retrospective case-control study, 103 patients with PIH [gestational hypertension (GH) n = 3... | DisGeNET | Detail |
| A tendency for the majority of homozygous A and G variants in LEP -2548 G/A and LEPR 668 A/G was fou... | DisGeNET | Detail |
| Together, our findings suggest evidence for a two-locus interaction between the LEPR Gln223Arg and A... | DisGeNET | Detail |
| Together, our findings suggest evidence for a two-locus interaction between the LEPR Gln223Arg and A... | DisGeNET | Detail |
| Together, our findings suggest evidence for a two-locus interaction between the LEPR Gln223Arg and A... | DisGeNET | Detail |
| The aim of this study was to investigate the possible associations of defined variability in leptin ... | DisGeNET | Detail |
| The aim of this study was to investigate the possible associations of defined variability in leptin ... | 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
- rs1137101 dbSNP
- Genome
- hg38
- Position
- chr1:65,592,830-65,592,830
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1190
- Mean of sample read depth (HGVD)
- 40.07
- Standard deviation of sample read depth (HGVD)
- 18.90
- Number of reference allele (HGVD)
- 306
- Number of alternative allele (HGVD)
- 2066
- Allele Frequency (HGVD)
- 0.8709949409780776
- Gene Symbol (HGVD)
- LEPR
- 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))
- rs1137101
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.8638
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 14477
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 7590
- East Asian Heterozygous Counts (ExAC)
- 934
- East Asian Homozygous Counts (ExAC)
- 3328
- East Asian Allele Frequency (ExAC)
- 0.8782689192316593
- Chromosome Counts in All Race (ExAC)
- 121004
- Allele Counts in All Race (ExAC)
- 61749
- Heterozygous Counts in All Race (ExAC)
- 28711
- Homozygous Counts in All Race (ExAC)
- 16519
- Allele Frequency in All Race (ExAC)
- 0.5103054444481174
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