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Submitted SNP(ss) Details: ss342391774           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr14-74823643
RefSNP(rs#)rs2232032
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 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|ss342391774|allelePos=251|len=501|taxid=9606|alleles='C/T'|mol=Genomic
 GGGAGAAAGT GCAGGAGTGG ACAGGGCACC TTTGCTAGTC ATCATCTGGG CACTTCGACC
 TGACTACTGC CCCTTTATCT TTTGCCCTGG CAGGATGACT TCTCGGAACC AGCTGGTGCA
 GAAGGTGCTG CAGGAGCTGC AGGAAGCAGT GGAGTGCGAA GGCCTGGAGG GTCTCATAGG
 TGCTTCCTTG GAGGCCAAGC AGGTCCTGTC TTCCTTCACT CTCCCCACCT GCCGGGAGGG
 AGGCCCTGGC
 Y
 TCCAGGTGCT GGAAGTGGAC TCGGTGGCCC TGAGCCTGTA TCCAGAAGAT GCTCCACGGA
 ACATGCTGCC GCTGGTGTGC AAGGGGGAGG GCAGCCTGCT GTTCGAGGCG GCCAGCATGC
 TGCTGTGGGG TGACGCAGGC CTCAGCCTGG AGCTGCGGGC CCGCACCGTG GTAGAGATGC
 TGCTGCACAG ACACTACTAC CTCCAGGGCA TGATCGACTC CAAAGTGATG CTGCAGGCCG
 TGCGCTACTC

  Submitted Frequency for ss342391774 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=0.98754400
C/T=0.01245600
T/T=0.00000000
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342391774 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=0.99296701
T=0.00703297C/C=0.98593408
C/T=0.01406593
T/T=0.00000000
Pr(chiSq=0.114,df=1)
=0.752
Genotype
Freq.

  Submitted individual genotype for ss342391774 back to top
There is no individual genotype data for ss342391774.

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