chr3:10289773:G>T Detail (hg38) (GHRL, GHRLOS)

Information

Genome

Assembly Position
hg19 chr3:10,331,457-10,331,457 View the variant detail on this assembly version.
hg38 chr3:10,289,773-10,289,773

HGVS

Type Transcript Protein
RefSeq NM_001134941.2:c.211C>A NP_001128413.1:p.Leu71Met
NM_001302821.1:c.211C>A NP_001289750.1:p.Leu71Met
NM_016362.4:c.211C>A NP_057446.1:p.Leu71Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.200
ToMMo:0.202
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.193

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 605353 OMIM
HGNC 18129 HGNC
Ensembl ENSG00000157017 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11446191 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2005-12-01 no assertion criteria provided Obesity, age at onset of germline Detail
risk factor 2005-12-01 no assertion criteria provided Metabolic syndrome, susceptibility to germline Detail
Benign 2018-11-12 criteria provided, single submitter not provided germline Detail
Likely benign 2022-04-19 criteria provided, single submitter obesity unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Adenocarcinoma Of Esophagus Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ... BeFree 18398047 Detail
<0.001 Adenocarcinoma Of Esophagus Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ... BeFree 18398047 Detail
<0.001 Adenocarcinoma Of Esophagus Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ... BeFree 18398047 Detail
0.008 Malignant neoplasm of breast This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorp... BeFree 25376984 Detail
0.001 breast carcinoma This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorp... BeFree 25376984 Detail
0.006 Malignant neoplasm of breast This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorp... BeFree 25376984 Detail
<0.001 breast carcinoma This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorp... BeFree 25376984 Detail
0.003 Eating Disorders No association of the neuropeptide Y (Leu7Pro) and ghrelin gene (Arg51Gln, Leu72... BeFree 21047193 Detail
0.009 Metabolic syndrome X Large-scale studies of the Leu72Met polymorphism of the ghrelin gene in relation... BeFree 16108842 Detail
0.001 Diabetes Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Ty... BeFree 16759313 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Ty... BeFree 16759313 Detail
0.017 anorexia nervosa No association of the Arg51Gln and Leu72Met polymorphisms of the ghrelin gene wi... BeFree 16472909 Detail
0.151 obesity In previous studies, the Leu72Met polymorphism of the ghrelin gene has been asso... BeFree 16759313 Detail
<0.001 Coronary Arteriosclerosis Association between ghrelin gene (Leu72Met) polymorphism and ghrelin serum level... BeFree 24341728 Detail
0.009 bulimia nervosa No association of the Arg51Gln and Leu72Met polymorphisms of the ghrelin gene wi... BeFree 16472909 Detail
0.017 polycystic ovary syndrome No association of the Arg51Gln and Leu72Met polymorphisms of the ghrelin gene an... BeFree 19049992 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent To investigate the distribution of ghrelin gene Leu72Met polymorphism and its as... BeFree 22441120 Detail
0.004 diabetes mellitus Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Ty... BeFree 16759313 Detail
<0.001 Impaired glucose tolerance Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Ty... BeFree 16759313 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent The Leu72Met polymorphism of the GHRL gene prevents the development of diabetic ... BeFree 24132517 Detail
<0.001 coronary artery disease Association between ghrelin gene (Leu72Met) polymorphism and ghrelin serum level... BeFree 24341728 Detail
0.005 Diabetic Nephropathy The Leu72Met polymorphism of the GHRL gene prevents the development of diabetic ... BeFree 24132517 Detail
0.151 obesity Molecular screening of the ghrelin gene in Italian obese children: the Leu72Met ... BeFree 14724664 Detail
0.017 Diabetes Mellitus, Non-Insulin-Dependent The Leu72Met polymorphism of the ghrelin gene is associated with a decreased ris... BeFree 18848536 Detail
<0.001 Ovarian Diseases No association was found between Leu72Met and Arg51Gln polymorphisms in the ghre... BeFree 19049992 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
<0.001 Adenocarcinoma Of Esophagus Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS... BeFree 21472143 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) AND Obesity, age at onset of ClinVar Detail
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) AND Metabolic syndrome, susceptibility to ClinVar Detail
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) AND not provided ClinVar Detail
NM_016362.5(GHRL):c.214C>A (p.Leu72Met) AND Obesity ClinVar Detail
Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5... DisGeNET Detail
Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5... DisGeNET Detail
Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5... DisGeNET Detail
This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect ca... DisGeNET Detail
This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect ca... DisGeNET Detail
This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect ca... DisGeNET Detail
This study suggests that the rs696217 and rs2075356 ghrelin gene (GHRL) polymorphisms may protect ca... DisGeNET Detail
No association of the neuropeptide Y (Leu7Pro) and ghrelin gene (Arg51Gln, Leu72Met, Gln90Leu) singl... DisGeNET Detail
Large-scale studies of the Leu72Met polymorphism of the ghrelin gene in relation to the metabolic sy... DisGeNET Detail
Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Type 2 diabetes in sub... DisGeNET Detail
Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Type 2 diabetes in sub... DisGeNET Detail
No association of the Arg51Gln and Leu72Met polymorphisms of the ghrelin gene with anorexia nervosa ... DisGeNET Detail
In previous studies, the Leu72Met polymorphism of the ghrelin gene has been associated with obesity ... DisGeNET Detail
Association between ghrelin gene (Leu72Met) polymorphism and ghrelin serum level with coronary arter... DisGeNET Detail
No association of the Arg51Gln and Leu72Met polymorphisms of the ghrelin gene with anorexia nervosa ... DisGeNET Detail
No association of the Arg51Gln and Leu72Met polymorphisms of the ghrelin gene and polycystic ovary s... DisGeNET Detail
To investigate the distribution of ghrelin gene Leu72Met polymorphism and its association with the t... DisGeNET Detail
Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Type 2 diabetes in sub... DisGeNET Detail
Association of the Leu72Met polymorphism of the ghrelin gene with the risk of Type 2 diabetes in sub... DisGeNET Detail
The Leu72Met polymorphism of the GHRL gene prevents the development of diabetic nephropathy in Chine... DisGeNET Detail
Association between ghrelin gene (Leu72Met) polymorphism and ghrelin serum level with coronary arter... DisGeNET Detail
The Leu72Met polymorphism of the GHRL gene prevents the development of diabetic nephropathy in Chine... DisGeNET Detail
Molecular screening of the ghrelin gene in Italian obese children: the Leu72Met variant is associate... DisGeNET Detail
The Leu72Met polymorphism of the ghrelin gene is associated with a decreased risk for type 2 diabete... DisGeNET Detail
No association was found between Leu72Met and Arg51Gln polymorphisms in the ghrelin gene and PCOS in... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... DisGeNET Detail
Subsequent logistic regression analysis indicated that 10 SNPs (rs2070744 of NOS3, rs720321 of BCL2,... 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
rs696217 dbSNP
Genome
hg38
Position
chr3:10,289,773-10,289,773
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1158
Mean of sample read depth (HGVD)
45.88
Standard deviation of sample read depth (HGVD)
29.76
Number of reference allele (HGVD)
1853
Number of alternative allele (HGVD)
463
Allele Frequency (HGVD)
0.19991364421416236
Gene Symbol (HGVD)
GHRL
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))
rs696217
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2023
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
3391
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8638
East Asian Allele Counts (ExAC)
1667
East Asian Heterozygous Counts (ExAC)
1335
East Asian Homozygous Counts (ExAC)
166
East Asian Allele Frequency (ExAC)
0.1929844871498032
Chromosome Counts in All Race (ExAC)
121372
Allele Counts in All Race (ExAC)
10386
Heterozygous Counts in All Race (ExAC)
9260
Homozygous Counts in All Race (ExAC)
563
Allele Frequency in All Race (ExAC)
0.08557163101868635
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