LOXL1 G153D - GET-Evidence

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(LOXL1 Gly153Asp)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr15:74219582: 22.1% (2331/10564) in EVS
  • Frequency shown in summary reports: 22.1% (2331/10564)


Thorleifsson G, Magnusson KP, Sulem P, Walters GB, Gudbjartsson DF, Stefansson H, Jonsson T, Jonasdottir A, Jonasdottir A, Stefansdottir G, Masson G, Hardarson GA, Petursson H, Arnarsson A, Motallebipour M, Wallerman O, Wadelius C, Gulcher JR, Thorsteinsdottir U, Kong A, Jonasson F, Stefansson K. Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma. Science. 2007 Sep 7;317(5843):1397-400. Epub 2007 Aug 9. PubMed PMID: 17690259.



hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr15:74219582


hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr15:74219582




hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom A @ chr15:74219582


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr15:74219582


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr15:74219582


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr15:74219582


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr15:74219582




Other external references

  • rs3825942
  • Glaucoma (exfoliation) (rs3825942-G)
    Thorleifsson 9-Aug-07 in Science
    OR or beta: 20.1 [10.80-37.41]
    Risk allele frequency: 0.85
    p-value: 3.00E-21
    Initial sample: 75 cases, 14,474 controls
    Replication sample: 254 cases, 198 controls
  • [Exfoliation Syndrome]
    In a case-control GWAS of Icelandic and Swedish patients, the G allele of rs3825942 was significantly associated with risk of Exfoliation Syndrome Glaucoma.
  • [Glaucoma]
    GWAS Results: Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma (Initial Sample Size: 75 cases, 14,474 controls; Replication Sample Size: 254 cases, 198 controls; Risk Allele: rs3825942-G).
    www.ncbi.nlm.nih.gov/pubmed/17690259; Web Resource:http://www.genome.gov/gwastudie
  • Score: 0.135 (benign)

Other in silico analyses

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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