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Submitted SNP(ss) Details: ss342253790           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr8-19818436
RefSNP(rs#)rs316
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 Samplesize4548
PopulationN.D.
Allele
Observed AlleleC/A
Ancestral AlleleN.D.
Allele OriginN/A
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|ss342253790|allelePos=251|len=501|taxid=9606|alleles='C/A'|mol=Genomic
 TATTAAATAG TTCATGTCAT TAGGATAAAT GCTGGAATGT GGATATAATT TAAAATATAC
 TAAATGCCAT CGACCTTCAT TTTGAGTTCT TTGTTGGACA TTTTTGTGCA TTTTTAAAAT
 ATCCCCTAAA TAATAAAGCT ATTTATATTT GGAGAGGAGA AAAAAAAGTG GGGGGCAGGG
 AGAGCTGATC TCTATAACTA ACCAAATTTA TTGCTTTTTT GTTTAGGCCT GAAGTTTCCA
 CAAATAAGAC
 M
 TACTCCTTCC TAATTTACAC AGAGGTAGAT ATTGGAGAAC TACTCATGTT GAAGCTCAAA
 TGGAAGAGTG ATTCATACTT TAGCTGGTCA GACTGGTGGA GCAGTCCCGG CTTCGCCATT
 CAGAAGATCA GAGTAAAAGC AGGAGAGACT CAGAAAAAGT AATTAAATGT ATTTTTCTTC
 CTTCACTTTA GACCCCCACC TGATGTCAGG ACCTAGGGGC TGTATTTCAG GGGCCTTCAC
 AATTCAGGGA

  Submitted Frequency for ss342253790 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
13006C/C=0.70921099
A/C=0.26434001
A/A=0.02644900
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342253790 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
45484548C=0.83355319
A=0.16644679C/C=0.69437116
A/C=0.27836412
A/A=0.02726473
Pr(chiSq=0.023,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss342253790 back to top
There is no individual genotype data for ss342253790.

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