HDLCQ6
MCID: HGH038
MIFTS: 12

High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 (HDLCQ6)

Categories: Genetic diseases

Aliases & Classifications for High Density Lipoprotein Cholesterol Level Quantitative Trait...

MalaCards integrated aliases for High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6:

Name: High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 57 29 6
High Density Lipoprotein Cholesterol Level Qtl6 57
Hdlcq6 57

Classifications:



External Ids:

OMIM® 57 610762

Summaries for High Density Lipoprotein Cholesterol Level Quantitative Trait...

MalaCards based summary : High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6, is also known as high density lipoprotein cholesterol level qtl6. An important gene associated with High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 is SCARB1 (Scavenger Receptor Class B Member 1).

More information from OMIM: 610762

Symptoms & Phenotypes for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Clinical features from OMIM®:

610762 (Updated 05-Apr-2021)

Drugs & Therapeutics for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Search Clinical Trials , NIH Clinical Center for High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6

Genetic Tests for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Genetic tests related to High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6:

# Genetic test Affiliating Genes
1 High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 29 SCARB1

Anatomical Context for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Publications for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Articles related to High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6:

# Title Authors PMID Year
1
Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease. 57 6
26965621 2016
2
Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans. 6 57
21480869 2011
3
Genetic variant of the scavenger receptor BI in humans. 57 6
21226579 2011
4
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. 57
21909109 2011
5
Biological, clinical and population relevance of 95 loci for blood lipids. 57
20686565 2010
6
Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. 57
20159775 2010
7
Common variants at 30 loci contribute to polygenic dyslipidemia. 57
19060906 2009
8
Genome-wide linkage scans for loci affecting total cholesterol, HDL-C, and triglycerides: the Family Blood Pressure Program. 57
16868761 2006

Variations for High Density Lipoprotein Cholesterol Level Quantitative Trait...

ClinVar genetic disease variations for High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCARB1 NM_005505.5(SCARB1):c.889C>T (p.Pro297Ser) SNV association 30154 rs387906791 GRCh37: 12:125292427-125292427
GRCh38: 12:124807881-124807881
2 SCARB1 NM_005505.5(SCARB1):c.523A>G (p.Thr175Ala) SNV association 39738 rs187831231 GRCh37: 12:125298855-125298855
GRCh38: 12:124814309-124814309
3 SCARB1 NM_005505.5(SCARB1):c.335C>T (p.Ser112Phe) SNV association 39739 rs397514572 GRCh37: 12:125299610-125299610
GRCh38: 12:124815064-124815064
4 SCARB1 NM_005505.5(SCARB1):c.1127C>T (p.Pro376Leu) SNV Pathogenic 253091 rs74830677 GRCh37: 12:125284671-125284671
GRCh38: 12:124800125-124800125

Expression for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Search GEO for disease gene expression data for High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6.

Pathways for High Density Lipoprotein Cholesterol Level Quantitative Trait...

GO Terms for High Density Lipoprotein Cholesterol Level Quantitative Trait...

Sources for High Density Lipoprotein Cholesterol Level Quantitative Trait...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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