Genopathy
Gene-Disorder Association · Article
Gene
SCARB1
Scavenger Receptor Class B Member 1
Disorder
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6
First reported 2006
Key publication · disorder Genome-wide linkage scans for loci affecting total cholesterol, HDL-C, and triglycerides: the Family Blood Pressure Program.Human genetics · 2006
Manually curated
Association Review

In brief

The association between SCARB1 (Scavenger Receptor Class B Member 1) and High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 8
Symptoms 0
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
SCARB1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6

The disorder

1 database identifier

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

8 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Provenance

References & sources

4 references

Every source and publication cited across this dossier, as one numbered reference list.

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