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Standard

Malaria, resistance to

HBB · rs33930165

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars. Its strongest genetic-study result is p = 10−42, with 32 associations in the GWAS Catalog.

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 Pathogenic/Likely pathogenic for Malaria, resistance to, HEMOGLOBIN C, Hb SS disease, beta Thalassemia, Heinz body anemia and 9 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 37 submitters), last evaluated 2026-08-03. ClinVar record 15126 NM_000518.4(HBB):c.19G>A (p.Glu7Lys)

Classification Uncertain significance for HEMOGLOBIN MACHIDA; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2024-11-06. ClinVar record 15243 NM_000518.4(HBB):c.19G>C (p.Glu7Gln)

Classification Pathogenic for beta Thalassemia; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2019-11-25. ClinVar record 869230 NM_000518.5(HBB):c.19G>T (p.Glu7Ter)

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

C/C No copy of the version ClinVar lists as disease-causing or likely disease-causing for Malaria, resistance to. This is the usual result. (ClinVar VCV000015126, criteria provided, multiple submitters, no conflicts)
C/T One copy of the version ClinVar lists as disease-causing or likely disease-causing for Malaria, resistance to. 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 VCV000015126, criteria provided, multiple submitters, no conflicts)
T/T Two copies of the version ClinVar lists as disease-causing or likely disease-causing for Malaria, resistance to. 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 VCV000015126, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000015126, criteria provided, multiple submitters, no conflicts

Quoting this page

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Malaria, resistance to (rs33930165). MyGeneLog™. https://www.mygenelog.com/variants/rs33930165

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