Standard

Hypercholesterolemia, familial, 1

LDLR · rs137943601

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10⁻⁵⁰. 2: ClinVar from one lab (1 star), or p ≤ 10⁻²⁰. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10⁻⁸). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What ClinVar records

Classification Uncertain significance for Familial hypercholesterolemia, Hypercholesterolemia, familial, 1, Cardiovascular phenotype; reviewed by expert panel (3 of 4 stars, 4 submitters), last evaluated 2021-12-16. ClinVar record 373430 NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln)

Classification Likely pathogenic for Hypercholesterolemia, familial, 1, Homozygous familial hypercholesterolemia, Familial hypercholesterolemia, Hypercholesterolemia, Cardiovascular phenotype and 1 more; reviewed by expert panel (3 of 4 stars, 28 submitters), last evaluated 2021-06-09. ClinVar record 36453 NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys)

Classification Pathogenic for Familial hypercholesterolemia; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-12-14. ClinVar record 1371905 NM_000527.5(LDLR):c.1222G>T (p.Glu408Ter)

Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.

What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version ClinVar lists as likely disease-causing for Hypercholesterolemia, familial, 1. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. (ClinVar VCV000036453, reviewed by expert panel)

A/G One copy of the version ClinVar lists as likely disease-causing for Hypercholesterolemia, familial, 1. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. (ClinVar VCV000036453, reviewed by expert panel)

G/G No copy of the version ClinVar lists as likely disease-causing for Hypercholesterolemia, familial, 1. This is the usual result. (ClinVar VCV000036453, reviewed by expert panel)

Source: ClinVar VCV000036453, reviewed by expert panel

Questions about rs137943601

What is rs137943601?

rs137943601 is a single position in the genome, in or near the LDLR gene. Published research associates it with hypercholesterolemia, familial, 1. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs137943601 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs137943601 come from?

ClinVar VCV000036453, reviewed by expert panel. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Hypercholesterolemia, familial, 1 (rs137943601). MyGeneLog™. https://www.mygenelog.com/variants/rs137943601

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