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Submitted SNP(ss) Details: ss342230081           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr7-2580935
RefSNP(rs#)rs141751133
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 Samplesize4186
PopulationN.D.
Allele
Observed AlleleT/A
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|ss342230081|allelePos=251|len=501|taxid=9606|alleles='T/A'|mol=Genomic
 GCCTGAGACA GAGGTGAGTG GATAAACCAC CCCCACCCCC ACCCTAGGAC CCTCCCCATC
 AACTCTGGGA AGGAGCAGAA CAAGGCCTCA TCCGCCAGCT GAAACCTCCT GCACGGCCCC
 TGCACCCCTC AGCCCCCACC CCAGAGAAGA AACAGAGAGG GACAGCAGTT CCCGGGTGCC
 TCCGAGCAGA AAGGAGAGTG GGGGCACAGG GATAGCCCCA CGCCAAAGCC GTACAGAACA
 CACTCACCTG
 W
 CCCCTGTGAC AGCGTCCCCA GGAAGTCGAG GGCTGCTCGC TGGACCCGGA CGCAGCCCGC
 CAGGGTCCCA CAGAGGTGGC CCCCCACACT GGAGGCAGGG GCAGCCGAGC CGTCACAGAG
 CCGCAGGACA GTCACTGTAG CCCCCAGTAG AGACGCCTGG GGCCACGGTG AAGGGCGCTG
 GGGCTGCGAG GAAGAGGGCC GTCAGCCAAG GTTGCGGTCC CACTGCCGGC GTGGATGCAG
 GGGTGCTGGG

  Submitted Frequency for ss342230081 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
12998T/T=0.99953800
A/T=0.00046200
A/A=0.00000000
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342230081 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
41864186T=0.99976110
A=0.00023889T/T=0.99952221
A/T=0.00047778
A/A=0.00000000
Pr(chiSq=0.000,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss342230081 back to top
There is no individual genotype data for ss342230081.

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