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Submitted SNP(ss) Details: ss342456020           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr17-42338945
RefSNP(rs#)rs5036
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 Samplesize4552
PopulationN.D.
Allele
Observed AlleleT/C
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|ss342456020|allelePos=251|len=501|taxid=9606|alleles='T/C'|mol=Genomic
 TGAGGGCCTG GGGACTCAGC CCTTGTCAAT CAGGTTATCT CTGCCCAGGG TGCTCCTGGA
 AAGGGGCCCA GGCCTCCCCA TCAGTGGGGC GTCCCTCCCA CCTGTTTCCT GGGATCCTCA
 CTCCTCTATC TGCTGCAGGG TCTCCCCCAG CCTGAAGCTG CCTCTATCCC CTTGCTCCTC
 TCTTCCCTGA TCAAATGGTG GGTCCCAAAG GCAGCATGGG AAAGAACGGA GGAGGCTGGG
 GTCCTCACCT
 Y
 GTGGGTACCC GGGTGTGATG TGGTGTGGTA GTCTGTGGCT GTTGCCTCGG TGTCGTGAGC
 TGAAAACCAG AGGTCGGTTA GTATTGACCT GACCGTCCCC CACCTGAGGC TCTTCACCAT
 CCACTGTGAG CCTCAGAGAC CCAGGCATGG GCAGATGCCC CTCCTTCCCA GTGCCCTGGG
 CTGGGTCTCT GGTGCCGCAT CCCACACTGG CCACTCAGCA GAATGAGGCT CCCCACACTT
 GTGTGCTGGG

  Submitted Frequency for ss342456020 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
13006T/T=0.90558201
C/T=0.08949700
C/C=0.00492100
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342456020 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
45524552T=0.94463974
C=0.05536028T/T=0.89674866
C/T=0.09578207
C/C=0.00746924
Pr(chiSq=16.145,df=1)
=0.001
Genotype
Freq.

  Submitted individual genotype for ss342456020 back to top
There is no individual genotype data for ss342456020.

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