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Submitted SNP(ss) Details: ss342255718           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr8-27320636
RefSNP(rs#)rs56298562
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 Samplesize4538
PopulationN.D.
Allele
Observed AlleleG/A
Ancestral AlleleN.D.
Allele OriginT:Germline C: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|ss342255718|allelePos=251|len=501|taxid=9606|alleles='G/A'|mol=Genomic
 GCCTTCACGA GAGGGGCCTG GGCTGCCCAA GCTCACACTC TGCGGTAAGG TGGTTCCCCG
 CTAAGTTGGT GGGGCCACCC AGGCTGGCGC CTCTCCCAAC CCCAACGCAC CGAAGAGTCA
 GCATCCTCAG ACCGCAGGTG GTCGGCAATG TAGTGCACAC CTTCCAGTGC CTTCTGCATG
 TGGGGTGATA GCAGCAGCTC ACCCTCCTGC AGCAGAGCCT CAGCCTTGGG ACCTGAGGCC
 CCAGAGTGCA
 R
 GTGGCCGTGG CTGCAGAGGG TGCCCACAGA GGGGGCCACA TGACCTGCAC ATGCCCATCT
 GTCCTCCTCC TCCACCACCA CCTCCCTCTC CTCGGCATCC ACGTTGCTCT CCAGCCAGTG
 ATAAGAGGGG CTGAGCTTCA GGCGTAGGGG GTGGCAGAGC TCCACGGGTG GTGGGGGCCG
 GTTCATCAGA AGCCACCGGG GCACACAGCC CAGAAGGGCC CCCCGCACCC AGTGGGGCAT
 GGTGTGGGTG

  Submitted Frequency for ss342255718 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
13006G/G=0.96493900
A/G=0.03475300
A/A=0.00030800
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342255718 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
45384538G=0.98457468
A=0.01542530G/G=0.96914941
A/G=0.03085059
A/A=0.00000000
Pr(chiSq=0.557,df=1)
=0.479
Genotype
Freq.

  Submitted individual genotype for ss342255718 back to top
There is no individual genotype data for ss342255718.