chr1:66036441:A>G Detail (hg19) (LEPR)

Information

Genome

Assembly Position
hg19 chr1:66,036,441-66,036,441
hg38 chr1:65,570,758-65,570,758 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001198687.1:c.326A>G NP_001185616.1:p.Lys109Arg
NM_001198688.1:c.326A>G NP_001185617.1:p.Lys109Arg
NM_001003679.3:c.326A>G NP_001003679.1:p.Lys109Arg
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.822
ToMMo:0.781
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.822

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601007 OMIM
HGNC 6554 HGNC
Ensembl ENSG00000116678 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1821251 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2001-07-01 no assertion criteria provided LEPTIN RECEPTOR POLYMORPHISM germline Detail
Benign 2021-07-21 criteria provided, multiple submitters, no conflicts Obesity due to leptin receptor gene deficiency germline unknown Detail
Benign 2016-06-14 criteria provided, single submitter Monogenic Non-Syndromic Obesity germline Detail
Benign 2017-07-28 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
<0.001 obesity Prior to multiple testing correction, univariate analysis associated APOE rs4293... BeFree 26043189 Detail
0.440 obesity Thus, the aim of the study was to analyze the role of the Lys109Arg LEPR gene po... BeFree 19608021 Detail
0.002 Malignant neoplasm of breast These findings suggested that the LEPR K109R(rs1137100) genetic polymorphism may... BeFree 25261678 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
0.002 breast carcinoma These findings suggested that the LEPR K109R(rs1137100) genetic polymorphism may... BeFree 25261678 Detail
0.289 obesity Thus, the aim of the study was to analyze the role of the Lys109Arg LEPR gene po... BeFree 19608021 Detail
0.641 obesity Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP... BeFree 15972940 Detail
0.641 obesity Thus, the aim of the study was to analyze the role of the Lys109Arg LEPR gene po... BeFree 19608021 Detail
0.003 atherosclerosis Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early ... BeFree 20874424 Detail
0.008 obesity Prior to multiple testing correction, univariate analysis associated APOE rs4293... BeFree 26043189 Detail
0.002 obesity Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP... BeFree 15972940 Detail
0.196 obesity Prior to multiple testing correction, univariate analysis associated APOE rs4293... BeFree 26043189 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
Annotation

Annotations

DescrptionSourceLinks
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) AND LEPTIN RECEPTOR POLYMORPHISM ClinVar Detail
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) AND Obesity due to leptin receptor gene deficiency ClinVar Detail
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) AND Monogenic Non-Syndromic Obesity ClinVar Detail
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) AND not specified ClinVar Detail
NM_002303.6(LEPR):c.326A>G (p.Lys109Arg) 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 &gt; A and... DisGeNET Detail
Plasma levels of leptin and soluble leptin receptor and polymorphisms of leptin gene -18G &gt; A and... DisGeNET Detail
This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs... DisGeNET Detail
Prior to multiple testing correction, univariate analysis associated APOE rs429358, rs7412 and ATG16... DisGeNET Detail
Thus, the aim of the study was to analyze the role of the Lys109Arg LEPR gene polymorphism on inflam... DisGeNET Detail
These findings suggested that the LEPR K109R(rs1137100) genetic polymorphism may decrease the suscep... 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
These findings suggested that the LEPR K109R(rs1137100) genetic polymorphism may decrease the suscep... DisGeNET Detail
Thus, the aim of the study was to analyze the role of the Lys109Arg LEPR gene polymorphism on inflam... DisGeNET Detail
Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin r... DisGeNET Detail
Thus, the aim of the study was to analyze the role of the Lys109Arg LEPR gene polymorphism on inflam... DisGeNET Detail
Leptin receptor Lys109Arg and Gln223Arg polymorphisms are associated with early atherosclerosis. DisGeNET Detail
Prior to multiple testing correction, univariate analysis associated APOE rs429358, rs7412 and ATG16... DisGeNET Detail
Some polymorphic genes involved in the regulation of leptin-the leptin gene (LEP A19G), the leptin r... DisGeNET Detail
Prior to multiple testing correction, univariate analysis associated APOE rs429358, rs7412 and ATG16... 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

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
rs1137100 dbSNP
Genome
hg19
Position
chr1:66,036,441-66,036,441
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1101
Mean of sample read depth (HGVD)
89.33
Standard deviation of sample read depth (HGVD)
41.15
Number of reference allele (HGVD)
391
Number of alternative allele (HGVD)
1807
Allele Frequency (HGVD)
0.8221110100090991
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))
rs1137100
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7808
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13087
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8632
East Asian Allele Counts (ExAC)
7096
East Asian Heterozygous Counts (ExAC)
1290
East Asian Homozygous Counts (ExAC)
2903
East Asian Allele Frequency (ExAC)
0.8220574606116775
Chromosome Counts in All Race (ExAC)
116932
Allele Counts in All Race (ExAC)
34397
Heterozygous Counts in All Race (ExAC)
21399
Homozygous Counts in All Race (ExAC)
6499
Allele Frequency in All Race (ExAC)
0.29416241918379915
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