CD226 S307G - 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.

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Curation:
Currentness:

CD226 S307G

(CD226 Ser307Gly)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 0.25
GVGD: GV 353.86; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.31);
PolyPhen=benign(0.013);
Condel=neutral(0.362)
Mutation Tasting Prediction: Polymorphism, P value: 0.999040; protein features (might be) affected (aa 276-336 TOPO_DOM Cytoplasmic (Potential) gets lost)

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

  • C @ chr18:67531642: 45.1% (4852/10758) in EVS
  • C @ chr18:65682621: 43.0% (55/128) in GET-Evidence
  • Frequency shown in summary reports: 45.1% (4852/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom C @ chr18:67531642

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr18:67531642

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr18:67531642

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr18:67531642

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr18:67531642

 

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr18:67531642

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr18:67531642

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr18:67531642

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
hom C @ chr18:67531642

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr18:67531642

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr18:67531642

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr18:67531642

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr18:67531642

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr18:67531642

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr18:67531642

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr18:67531642

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom C @ chr18:67531642

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr18:67531642

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom C @ chr18:67531642

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom C @ chr18:67531642

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr18:67531642

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr18:67531642

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr18:67531642

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr18:67531642

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr18:67531642

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom C @ chr18:67531642

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr18:67531642

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr18:65682622

 

GS06994 - var-GS06994-1100-36-ASM
het C @ chr18:65682622

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr18:65682622

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr18:65682622

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr18:65682622

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr18:65682622

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr18:65682622

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr18:65682622

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr18:65682622

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr18:65682622

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr18:65682622

 

GS19017 - var-GS19017-1100-36-ASM
hom C @ chr18:65682622

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr18:65682622

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr18:65682622

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr18:65682622

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr18:65682622

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr18:65682622

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr18:65682622

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr18:65682622

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr18:65682622

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr18:65682622

 

Other external references
 

    dbSNP
  • rs763361
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GWAS
  • Type 1 diabetes (rs763361-A)
    Todd 6-Jun-07 in Nat Genet
    OR or beta: 1.16 [1.10-1.22]
    Risk allele frequency: 0.47
    p-value: 1.00E-08
    Initial sample: 1,963 cases, 2,938 controls
    Replication sample: 2997 trios, 4,000 cases, 5,000 controls
    www.ncbi.nlm.nih.gov/pubmed/17554260
    PharmGKB
  • [Diabetes Mellitus; Diabetes Mellitus, Type 1]
    GWAS Results: Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes (Initial Sample Size: 1,963 cases, 2,938 controls; Replication Sample Size: 4,000 cases, 5,000 controls, 2,997 trios; Risk Allele: rs763361-A).
    www.ncbi.nlm.nih.gov/pubmed/17554260; Web Resource:http://www.genome.gov/gwastudie

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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