chr3:10290681:T>G Detail (hg38) (GHRL)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:10,332,365-10,332,365 View the variant detail on this assembly version. |
hg38 | chr3:10,290,681-10,290,681 |
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 |
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
Descrption | Source | Links |
---|---|---|
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
- hg38
- Position
- chr3:10,290,681-10,290,681
- 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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