IL7R I356V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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IL7R I356V

(IL7R Ile356Val)

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

  • G @ chr5:35876274: 29.4% (3167/10758) in EVS
  • G @ chr5:35912030: 26.6% (34/128) in GET-Evidence
  • Frequency shown in summary reports: 29.4% (3167/10758)


Lundmark F, Duvefelt K, Iacobaeus E, Kockum I, Wallström E, Khademi M, Oturai A, Ryder LP, Saarela J, Harbo HF, Celius EG, Salter H, Olsson T, Hillert J. Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. Nat Genet. 2007 Sep;39(9):1108-13. Epub 2007 Jul 29. PubMed PMID: 17660816.









hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr5:35876274



hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr5:35876274



huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr5:35876274




huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr5:35876274


huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr5:35876274



GS06985 - var-GS06985-1100-36-ASM
het G @ chr5:35912031


GS06994 - var-GS06994-1100-36-ASM
het G @ chr5:35912031


GS07357 - var-GS07357-1100-36-ASM
hom G @ chr5:35912031


GS10851 - var-GS10851-1100-36-ASM
hom G @ chr5:35912031


GS18501 - var-GS18501-1100-36-ASM
het G @ chr5:35912031


GS18504 - var-GS18504-1100-36-ASM
het G @ chr5:35912031


GS18517 - var-GS18517-1100-36-ASM
hom G @ chr5:35912031


GS18537 - var-GS18537-1100-36-ASM
het G @ chr5:35912031


GS19020 - var-GS19020-1100-36-ASM
het G @ chr5:35912031


GS19129 - var-GS19129-1100-36-ASM
het G @ chr5:35912031


GS19238 - var-GS19238-1100-36-ASM
het G @ chr5:35912031


GS19700 - var-GS19700-1100-36-ASM
het G @ chr5:35912031


GS19701 - var-GS19701-1100-36-ASM
het G @ chr5:35912031


GS19834 - var-GS19834-1100-36-ASM
het G @ chr5:35912031


GS20502 - var-GS20502-1100-36-ASM
hom G @ chr5:35912031


GS20509 - var-GS20509-1100-36-ASM
het G @ chr5:35912031


GS21767 - var-GS21767-1100-36-ASM
het G @ chr5:35912031


Other external references

  • rs3194051
  • [Multiple Sclerosis]
    In a nordic case-control group consisted of 1,820 individuals with multiple sclerosis and 2,634 healthy controls this SNP in exon 8 of the IL7R gene confirmed association with multiple sclerosis.
  • [Multiple Sclerosis]
    In a case-control study of Nordic populations, rs3194051 was associated with risk of multiple sclerosis.
    Web search results (6 hits -- see all)
  • Table 2 : Robust associations of four new chromosome regions ...
    Nature Genetics publishes the very highest quality research in genetics. It encompasses ... rs1445898 and IL7R SNPs rs3194051 and rs6897932, respectively. IL7R is also called ...
  • Interleukin 7 receptor a chain (IL7R) shows allelic and ...
    Interleukin 7 receptor a chain (IL7R) shows allelic and. functional association with ... (IL7R) 5 . We analyzed a large data set of 760 US families of European ...
    ... exon 6, soluble IL7Rα chain and membrane bound IL7Rα chain as described herein. ... an IL7Rα mRNA lacking exon 6, thereby producing a soluble form of the IL7Rα chain protein. ...
  • Multiple Sclerosis Genetics
    I356V. 0.7856. rs1494571. 35915844. C/G. 0.28. downstream. 0.9276. P-values meeting Bonferroni ... IL7R. α. expression by mature T cells is dramatically. influenced by extrinsic factors, ...
    The present invention provides, in certain aspects, a method of identifying a subject as having an increased risk of developing multiple sclerosis, comprising ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

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Gene search

"GENE" or "GENE A123C":

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