chr3:123346931:A>G Detail (hg38) (ADCY5)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr3:123,065,778-123,065,778 View the variant detail on this assembly version.
hg38	chr3:123,346,931-123,346,931

HGVS

ADCY5

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
	ENST00000462833.6:c.1406+851T>C
	ENST00000466617.6:c.83+851T>C
	ENST00000470367.2:c.371+851T>C
	ENST00000483566.2:c.83+851T>C
	ENST00000491190.5:c.305+851T>C
	ENST00000699714.1:c.83+851T>C
	ENST00000699715.1:c.83+851T>C
	ENST00000699716.1:c.83+851T>C
	ENST00000699718.1:c.1406+851T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

Links

ADCY5

Type	Database	ID	Link
Gene	MIM	600293	OMIM
	HGNC	236	HGNC
	Ensembl	ENSG00000173175	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv193266797	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
<0.001	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: hg38
Position: chr3:123,346,931-123,346,931
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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