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Sensitive

Lofgren's syndrome

FLOT1 · rs1064627

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−14, with 6 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 the study found

Who was studied 132 European ancestry female cases, 2,236 European ancestry female controls.

The effect Each copy of the G allele carried 3.31 times the odds of Lofgren's syndrome (95% confidence interval 2.4618-4.4532); p = 3 × 10−14.

How common The G allele had a frequency of about 35% in the people studied.

Where it sits Chromosome 6, band 6p21.33 — in an intron of FLOT1.

How common each version is

AG

By ancestry gnomAD

East Asian
A 80.2% · G 19.8%
European (non-Finnish)
A 82.7% · G 17.3%
African / African American
A 74.1% · G 25.9%
South Asian
A 83.7% · G 16.3%
Admixed American (Latino)
A 84.0% · G 16.0%
Middle Eastern
A 79.6% · G 20.4%
Finnish
A 91.1% · G 8.9%
Ashkenazi Jewish
A 87.4% · G 12.6%

The share of all copies of this position that are each version. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A No copy of the version the research linked to Lofgren's syndrome. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Lofgren's syndrome. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Lofgren's syndrome. That is the strongest link of the three results. A link in a study is not a diagnosis.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
Source

Quoting this page

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Lofgren's syndrome (rs1064627). MyGeneLog™. https://www.mygenelog.com/variants/rs1064627

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