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Submitted SNP(ss) Details: ss342534057           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr21-45709642
RefSNP(rs#)rs34397615
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 Samplesize4126
PopulationN.D.
Allele
Observed AlleleC/T
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|ss342534057|allelePos=251|len=501|taxid=9606|alleles='C/T'|mol=Genomic
 AGACTCGACT GGGGTGGGGG CGGGCTGGAG GAATGCAGGC TGTGGGAACT CCACCTGTCT
 CTGCTAGACC CCACCCTGGG GCCTACACGA CTGCCAAGGC AGGTCCTGCT GGGCGGGTGA
 GCCAGGACCA GCCGGCATCT CCTCCCAGGC GGCTCCAAGA AGTGCATCCA GGTTGGCGGG
 GAGTTCTACA CTCCCAGCAA GTTCGAAGAC TCCGGCAGTG GGAAGAACAA GGCCCGCAGC
 AGCAGTGGCC
 Y
 GAAGCCTCTG GTTCGAGCCA AGGGAGCCCA GGGCGCTGCC CCCGTAAGCA CCTGACCTTC
 CCTGGGGAGC CTGGCTCTTG ATGCCCCCCG CCCCAGGAAC AGCGTTGCCT CTGGGGGAGT
 GGCTCTGCTG GGGGCTGGGG GCTGCTGCCG AGAGACGCCT GGTGCCACAG CCATGTGCAC
 CCTCGCTGCT GAGGCTGCCC CCATTGCTGA CGCCCCTCTT CCTTGCAGGG TGGAGGTGAG
 GCTAGGCTGG

  Submitted Frequency for ss342534057 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 		12994C/C=0.98122197
C/T=0.01877800
T/T=0.00000000
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342534057 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 		41264126C=0.99030536
T=0.00969462C/C=0.98061079
C/T=0.01938924
T/T=0.00000000
Pr(chiSq=0.198,df=1)
=0.752		Genotype
Freq.

  Submitted individual genotype for ss342534057 back to top
There is no individual genotype data for ss342534057.

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