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Submitted SNP(ss) Details: ss341923323           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr1-866437
RefSNP(rs#)rs139076934
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 Samplesize4550
PopulationN.D.
Allele
Observed AlleleC/T
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusNot Validated
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|ss341923323|allelePos=251|len=501|taxid=9606|alleles='C/T'|mol=Genomic
 GTCTGCTGAG GCCAGGAGCT GGCTTTGGCC CATGGGCCTG TCCTAGTGGG AGGCCCCAGC
 ATGTTGAGCC AGTAGCAGGT GGTGCTGGGC ATGGCAGCCG CCCTCGTTCA CTGCCCAGGG
 CTGTGGCCCA GCGGGGCACT GACCCGAGAC AGGTCTGCGC ACGCCCTGCT ATCCTGAGGC
 TGGGGTCAGG GGCCTCCAGA GCAACATGGA CCTTCTGCTT CCCTTCCTGC AGAGTCCACA
 CCCACTGGGA
 Y
 GTGAACATCT CTTTCCGAGA GGCGTCCTGC AGGTAGGAGC CGTGCTGTGC GTGCATAAGA
 GGGGGCCGTG ACTCCCCTCC CTCCCTCCCA CCCCTGACCG TGCCCTGCTG TCTGCTGTCC
 GCTGTCTCAG CGTGAGCTGA TGCTGTGATG CTGGCTGAGT GTCTGCCAGG TTTGACATGT
 GCTGCAAGGT TGTCCCCCAT CCCGGGAGGC AGACAGTGTT GCACCCAGTT GGGACTGAGG
 GACCCCAGAC

  Submitted Frequency for ss341923323 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=0.99984598
C/T=0.00015400
T/T=0.00000000
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss341923323 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
45504550C=0.99978024
T=0.00021978C/C=0.99956042
C/T=0.00043956
T/T=0.00000000
Pr(chiSq=0.000,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss341923323 back to top
There is no individual genotype data for ss341923323.

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