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Diaphragmatic hernia 4, with cardiovascular defects

ALDH1A2 · rs2504834746

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; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-04-28. ClinVar record 2541748 NM_003888.4(ALDH1A2):c.1382C>G (p.Ser461Cys)

Classification Pathogenic for Diaphragmatic hernia 4, with cardiovascular defects; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2022-09-01. ClinVar record 1703737 NM_003888.4(ALDH1A2):c.1382C>A (p.Ser461Tyr)

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

G/G No copy of the version ClinVar lists as disease-causing for Diaphragmatic hernia 4, with cardiovascular defects. This is the usual result. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV001703737, no assertion criteria provided)
G/T One copy of the version ClinVar lists as disease-causing for Diaphragmatic hernia 4, with cardiovascular defects. 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV001703737, no assertion criteria provided)
T/T Two copies of the version ClinVar lists as disease-causing for Diaphragmatic hernia 4, with cardiovascular defects. 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV001703737, no assertion criteria provided)

Source: ClinVar VCV001703737, no assertion criteria provided

Questions about rs2504834746

What is rs2504834746?

rs2504834746 is a single position in the genome, in or near the ALDH1A2 gene. Published research associates it with diaphragmatic hernia 4, with cardiovascular defects. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2504834746 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 rs2504834746 come from?

ClinVar VCV001703737, no assertion criteria provided. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Diaphragmatic hernia 4, with cardiovascular defects (rs2504834746). MyGeneLog™. https://www.mygenelog.com/variants/rs2504834746

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