rs3740066 - 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:

rs3740066


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 @ chr10:101604207: 33.0% (3552/10758) in EVS
  • T @ chr10:101594196: 28.9% (37/128) in GET-Evidence
  • Frequency shown in summary reports: 33.0% (3552/10758)

Publications
 

Choi JH, Ahn BM, Yi J, Lee JH, Lee JH, Nam SW, Chon CY, Han KH, Ahn SH, Jang IJ, Cho JY, Suh Y, Cho MO, Lee JE, Kim KH, Lee MG. MRP2 haplotypes confer differential susceptibility to toxic liver injury. Pharmacogenet Genomics. 2007 Jun;17(6):403-15. PubMed PMID: 17502832.

 

Kroetz DL, Yee SW, Giacomini KM. The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology. Clin Pharmacol Ther. 2010 Jan;87(1):109-16. Epub 2009 Nov 25. Review. PubMed PMID: 19940846; PubMed Central PMCID: PMC2923224.

 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr10:101604207

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr10:101604207

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr10:101604207

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr10:101604207

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr10:101604207

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr10:101604207

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr10:101604207

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr10:101604207

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr10:101604207

 

 

hu728FFF - hu728FFF build 36 substitution variants
hom T @ chr10:101594197

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr10:101604207

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr10:101604207

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr10:101604207

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr10:101604207

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr10:101604207

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr10:101604207

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr10:101604207

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr10:101604207

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr10:101604207

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr10:101604207

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr10:101594197

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr10:101594197

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr10:101594197

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr10:101594197

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr10:101594197

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr10:101594197

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr10:101594197

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr10:101594197

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr10:101594197

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr10:101594197

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr10:101594197

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr10:101594197

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr10:101594197

 

GS19649 - var-GS19649-1100-36-ASM
hom T @ chr10:101594197

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr10:101594197

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr10:101594197

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr10:101594197

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr10:101594197

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr10:101594197

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr10:101594197

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr10:101594197

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr10:101594197

 

Other external references
 

    dbSNP
  • rs3740066
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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