chr3:123065778:A>G Detail (hg19) (ADCY5)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:123,065,778-123,065,778 |
hg38 | chr3:123,346,931-123,346,931 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001199642.1:c.356+851T>C | |
NM_183357.2:c.1406+851T>C | ||
Ensemble | ENST00000309879.9:c.356+851T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
0.340 | Diabetes Mellitus, Non-Insulin-Dependent | In addition to previously reported type 2 diabetes risk variants in TCF7L2 and S... | BeFree | 21949744 | Detail |
0.614 | Diabetes Mellitus, Non-Insulin-Dependent | In addition to previously reported type 2 diabetes risk variants in TCF7L2 and S... | BeFree | 21949744 | Detail |
0.014 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
0.250 | Diabetes Mellitus, Non-Insulin-Dependent | Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAM... | GWASCAT | 22693455 | Detail |
0.250 | Diabetes Mellitus, Non-Insulin-Dependent | However, altered ADCY5 expression in AT does not seem to be the mechanism underl... | BeFree | 25793868 | Detail |
<0.001 | hyperglycemia | We measured ADCY5 mRNA expression in paired samples of visceral and subcutaneous... | BeFree | 25793868 | Detail |
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
<0.001 | gestational diabetes | Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6P... | BeFree | 23761423 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
In addition to previously reported type 2 diabetes risk variants in TCF7L2 and SLC30A8, SNPs in ADCY... | DisGeNET | Detail |
In addition to previously reported type 2 diabetes risk variants in TCF7L2 and SLC30A8, SNPs in ADCY... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment fo... | DisGeNET | Detail |
However, altered ADCY5 expression in AT does not seem to be the mechanism underlying the association... | DisGeNET | Detail |
We measured ADCY5 mRNA expression in paired samples of visceral and subcutaneous adipose tissue from... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Additionally, risk variants rs9939609 of FTO, rs2796441 of TLE1, rs560887 of G6PC2, rs780094 of GCKR... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs11708067 dbSNP
- Genome
- hg19
- Position
- chr3:123,065,778-123,065,778
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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