ARMS2 R3H - GET-Evidence

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

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Curation:
Currentness:

ARMS2 R3H

(ARMS2 Arg3His)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr10:124214251: 9.6% (991/10284) in EVS
  • A @ chr10:124204240: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 9.6% (991/10284)

Publications
 

Genomes
 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom A @ chr10:124214251

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr10:124214251

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr10:124214251

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr10:124214251

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr10:124214251

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr10:124214251

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom A @ chr10:124214251

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr10:124204241

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr10:124204241

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr10:124204241

 

Other external references
 

    dbSNP
  • rs10490923
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (17 hits -- see all)
  • Polymorphisms in the LOC387715/ARMS2 putative gene and the ...
    Polymorphisms in the LOC387715/ARMS2 putative gene and the risk for ... two other common variations, which determine the R3H change (rs10490923) and a premature stop codon ...
    www.ncbi.nlm.nih.gov/pubmed/18688167
  • Polymorphisms in the LOC387715/ARMS2 Putative Gene and the ...
    Polymorphisms in the LOC387715/ARMS2 Putative Gene and the Risk for Alzheimer's Disease ... variations, which determine the R3H change (rs10490923) and a ...
    content.karger.com/produktedb/produkte.asp?doi=151050
  • Text format
    ... with ARMD, determines the A69S substitution in the LOC387715/ARMS2 gene. ... two other common variations, which determine the R3H change (rs10490923) and a premature stop codon ...
    ncbi.nlm.nih.gov/sites/entrez?...&dopt=Medline&uid=18688167
  • 音楽が神なRPG
    2007/03/14(水) 19:51:06 ID:fvOEa/X20. って何だと思う? 2 :名無しさん@お腹いっぱい。 [sage]:2007/03/14(水) 19:52: ... WILD ARMS2かな。 戦闘と街の曲が好きだった。 203 :デフォルト名無し変更論議中@専用スレ[sage]:2007/09/14(金) 12:00:03 ID: ...
    www.unkar.org/read/game14.2ch.net/gamerpg/1173869466
  • 音楽が神なRPG
    2007/03/14(水) 19:51:06 ID:fvOEa/X20. って何だと思う? 2 :名無しさん@お腹いっぱい。 :2007/03/14(水) 19:52:59 ID: ... WILD ARMS2かな。 戦闘と街の曲が好きだった。 203 :デフォルト名無し変更論議中@専用スレ:2007/09/14(金) 12: ...
    schiphol.2ch.net/test/read.cgi/gamerpg/1173869466
  • 音楽が神なRPG
    1000を超えると表示できなくなるよ。 音楽が神なRPG. 1 :名無しさん@お腹いっぱい。 :2007/03/14(水) 19:51:06 ... WILD ARMS2かな。 戦闘と街の曲が好きだった。 203 :デフォルト名無し変更論議中@専用スレ:2007/09/14(金) 12: ...
    jfk.2ch.net/test/read.cgi/gamerpg/1173869466
  • MACULAR COMPLICATIONS ON THE BORDER OF AN INFERIOR STAPHYLOMA ...
    The most common polymorphism in the ARMS2 gene on chromosome 10 was resequenced. ... seen in the White population, rs10490923 (R3H) as well as 7 other polymorphisms ...
    lib.bioinfo.pl/pmid:18667957
  • Ryo Yamada - Publications List
    Ryo Yamada - list of publications on publicationslist.org - ryamada ... the characteristics of the polymorphisms in the ARMS2 gene in Japanese patients with age-related macular ...
    publicationslist.org/ryamada
  • "Saito K "[Author] の検索結果 - ATGC論文チェッカー|Pubmed(パブメド)の論文検索をスムーズ ...
    ` "Saito K "[Author]` の検索結果です。- ATGC論文チェッカー|Pubmed(パブメド)の論文検索をスムーズにするWEBツール ... The most common polymorphism in the ARMS2 gene on chromosome 10 was resequenced. ...
    www.atgcchecker.com/search/?search="Saito+K+"[Author]&np=10

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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