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Submitted SNP(ss) Details: ss342253600           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr8-18257704
RefSNP(rs#)rs1801279
Submitted Batch IDESP2500
Submitted DateMar 25, 2011
Publication CitedN.D.
First entry to dbSNPMar 25 2011 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
genomic
MethodEXOME CAPTURE AND SEQUENCING
Ascertainment Samplesize4540
PopulationN.D.
Allele
Observed AlleleG/A
Ancestral AlleleN.D.
Allele OriginG:Germline A:Germline
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Variation
Frequency Submissionpopulation count: 1
Genotype Summarypopulation count: 1
Genotype SubmissionN.D.
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss342253600|allelePos=251|len=501|taxid=9606|alleles='G/A'|mol=Genomic
 GGAAATCAAA TGCTAAAGTA TGATATGTTT TTATGTTTTG TTTTTCTTGC TTAGGGGATC
 ATGGACATTG AAGCATATTT TGAAAGAATT GGCTATAAGA ACTCTAGGAA CAAATTGGAC
 TTGGAAACAT TAACTGACAT TCTTGAGCAC CAGATCCGGG CTGTTCCCTT TGAGAACCTT
 AACATGCATT GTGGGCAAGC CATGGAGTTG GGCTTAGAGG CTATTTTTGA TCACATTGTA
 AGAAGAAACC
 R
 GGGTGGGTGG TGTCTCCAGG TCAATCAACT TCTGTACTGG GCTCTGACCA CAATCGGTTT
 TCAGACCACA ATGTTAGGAG GGTATTTTTA CATCCCTCCA GTTAACAAAT ACAGCACTGG
 CATGGTTCAC CTTCTCCTGC AGGTGACCAT TGACGGCAGG AATTACATTG TCGATGCTGG
 GTCTGGAAGC TCCTCCCAGA TGTGGCAGCC TCTAGAATTA ATTTCTGGGA AGGATCAGCC
 TCAGGTGCCT

  Submitted Frequency for ss342253600 back to top

Population ID
 -Class
Sample
(2n)
Major
Allele
Freq.
Minor
Allele
Freq.
Estimated
Heterozygosity
+/-std.err.
Genotype
Freq.
Submitted
Hetero-
zygosity
Submission
Batch
Submitter
ESP_Cohort_Populations
NORTH AMERICA
13006G/G=0.94879299
A/G=0.04951600
A/A=0.00169200
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342253600 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
ESP_Cohort_Populations
NORTH AMERICA
45404540G=0.96674007
A=0.03325991G/G=0.93568283
A/G=0.06211454
A/A=0.00220264
Pr(chiSq=2.639,df=1)
=0.150
Genotype
Freq.

  Submitted individual genotype for ss342253600 back to top
There is no individual genotype data for ss342253600.

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