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Its strongest genetic-study result is p = 10−16, 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 630,125 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.
The effect
The reported allele is C; the catalogue records no effect size
; p = 1 × 10−10.
How common The C allele had a frequency of about 14% in the people studied.
Where it sits Chromosome 6, band 6p25.3 — in an intron of EXOC2.
How common each version is
AC
KoreanKRGDB
A 79.1% · C 20.8%
KoreanKorea4K
A 80.9% · C 19.1%
KoreanKorea1K
A 80.3% · C 19.7%
Japanese ToMMo
A 80.9% · C 19.1%
Vietnamese
A 87.5% · C 12.5%
World gnomAD
A 88.8% · C 11.2%
World 1000 Genomes
A 90.1% · C 9.9%
World TOPMed
A 89.3% · C 10.7%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.
What each result means
A/ANo copy of the version the research linked to Mean corpuscular hemoglobin. This is the starting point the study compared everyone against.
A/COne copy of the version the research linked to Mean corpuscular hemoglobin. That is a smaller link than two copies.
C/CTwo copies of the version the research linked to Mean corpuscular hemoglobin. That is the strongest link of the three results. A link in a study is not a diagnosis.
rs17135357 is a single position in the genome, in or near the EXOC2 gene. Published research associates it with mean corpuscular hemoglobin. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs17135357 linked to?
On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.
Does having rs17135357 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 rs17135357 come from?
GWAS Catalog, Cell 2020, PMID:32888493. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
0 2031112336Reads by AI crawlersClaude0ChatGPT0Google · Gemini3Perplexity1Meta AI1Microsoft · Copilot1Amazon2Apple3China (ByteDance, Huawei, Baidu…)3ByteDance (Doubao)3Others6Total20Counted by the name each crawler declares; requests found to be impersonating one are left out. Google · Gemini includes Googlebot, the search crawler whose index Google also uses for its AI features. Other search engines and bots are under Others.
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
Mean corpuscular hemoglobin (rs17135357). MyGeneLog™. https://www.mygenelog.com/variants/rs17135357