HEATR1 S1559N - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

HEATR1 S1559N

(HEATR1 Ser1559Asn)


Short summary

 

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

Impact

Insufficiently evaluated pharmacogenetic

(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

  • T @ chr1:236723108: 13.5% (1450/10758) in EVS
  • T @ chr1:234789730: 16.7% (21/126) in GET-Evidence
  • Frequency shown in summary reports: 13.5% (1450/10758)

Publications
 

Vink JM, Smit AB, de Geus EJ, Sullivan P, Willemsen G, Hottenga JJ, Smit JH, Hoogendijk WJ, Zitman FG, Peltonen L, Kaprio J, Pedersen NL, Magnusson PK, Spector TD, Kyvik KO, Morley KI, Heath AC, Martin NG, Westendorp RG, Slagboom PE, Tiemeier H, Hofman A, Uitterlinden AG, Aulchenko YS, Amin N, van Duijn C, Penninx BW, Boomsma DI. Genome-wide association study of smoking initiation and current smoking. Am J Hum Genet. 2009 Mar;84(3):367-79. Epub 2009 Mar 5. PubMed PMID: 19268276; PubMed Central PMCID: PMC2667987.

 

Genomes
 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr1:236723108

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr1:236723108

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr1:236723108

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr1:234789731

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr1:234789731

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr1:234789731

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr1:234789731

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr1:234789731

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr1:234789731

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr1:234789731

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr1:234789731

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr1:234789731

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr1:234789731

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr1:234789731

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr1:234789731

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr1:234789731

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr1:234789731

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr1:234789731

 

Other external references
 

    dbSNP
  • rs6661946
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [nicotine]
    In a GWAS of 3497 Dutch subjects from the Netherlands Study of Depression and Anxiety or from the Netherlands Twin Registry, this SNP was found to be associated with Current Smoking (p = 0.000004108;OR for minor allele T:2.12).
    www.ncbi.nlm.nih.gov/pubmed/19268276
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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