chr3:10332365:T>G Detail (hg19) (GHRL)

Information

Genome

Assembly Position
hg19 chr3:10,332,365-10,332,365
hg38 chr3:10,290,681-10,290,681 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001134941.2:c.-30+35A>C
NM_001302821.1:c.-30+35A>C
NM_016362.4:c.-30+35A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.075
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv11446303 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.440 obesity Therefore, the present study aimed to evaluate the relationships among the gene ... BeFree 26255942 Detail
0.151 obesity Therefore, the present study aimed to evaluate the relationships among the gene ... BeFree 26255942 Detail
0.013 obesity Therefore, the present study aimed to evaluate the relationships among the gene ... BeFree 26255942 Detail
0.641 obesity Therefore, the present study aimed to evaluate the relationships among the gene ... BeFree 26255942 Detail
Annotation

Annotations

DescrptionSourceLinks
Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... DisGeNET Detail
Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... DisGeNET Detail
Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... DisGeNET Detail
Therefore, the present study aimed to evaluate the relationships among the gene polymorphisms ghreli... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs26802 dbSNP
Genome
hg19
Position
chr3:10,332,365-10,332,365
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs26802
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0751
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1259
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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