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Standard

N-sulphoglucosamine sulphohydrolase levels

SGSH · rs74841027

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−33, with 1 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 2,549 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 1.19 lower (95% confidence interval 1-1.38); p = 5 × 10−34.

How common The C allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 17, band 17q25.3 — in an intron of SGSH.

What ClinVar records

Classification Likely benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-07-10. ClinVar record 1213475 NM_000199.5(SGSH):c.663+87A>G

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.

How common each version is

CT
Korean KRGDB
C 2.5% · T 97.5%
Korean Korea4K
C 1.9% · T 98.0%
Japanese ToMMo
C 2.9% · T 97.1%
World gnomAD
C 1.4% · T 98.6%
World 1000 Genomes
C 1.6% · T 98.4%
World TOPMed
C 1.5% · T 98.5%

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

C/C Two copies of the version the research linked to N-sulphoglucosamine sulphohydrolase levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to N-sulphoglucosamine sulphohydrolase levels. That is a smaller link than two copies.
T/T No copy of the version the research linked to N-sulphoglucosamine sulphohydrolase levels. This is the starting point the study compared everyone against.
Source

Quoting this page

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N-sulphoglucosamine sulphohydrolase levels (rs74841027). MyGeneLog™. https://www.mygenelog.com/variants/rs74841027

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