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Submitted SNP(ss) Details: ss342373171           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr13-25009288
RefSNP(rs#)rs1050114
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|ss342373171|allelePos=251|len=501|taxid=9606|alleles='C/T'|mol=Genomic
 AGTGGAGCAG ACTGTGCAGA GCTTAATGAG CTCCCTGAAA AAACAATGCC ACAATAGGGT
 GAAGAAGGTG GGTTCTGGGG AGGTCCTGTG GGACAAGACG CCGACTGTGG GATCCAGTCA
 GCACAAGTGC CAGGCACAGG GCCTTGGCTG AATTGAGATG CATCAAACTG TCTGGGAGGA
 GCAGCTGAAC CGAAACTAGC TACCTGACGA TATGAGGCAA AAGACAAGGA AGCAGGACTG
 TGAGCGCGGG
 Y
 AGTCGGGGGA AGATAGGAAC CAACGGCCGG AGCCAAAATA GGAAAAAAGC TAGAAGTAGA
 TGTTTCCCAT GGACTGACTT TCTTAAATAG TGGTTCAGTT GCTGTTGGTT TACATGACTC
 TGTCCAACTT AAATCCAATA GCTTTTCCAC ACCTCCACGT TCCAAATTTG ATGTGAAAGC
 TGGTAGTACA CCTAAGCCAT CCTCTTCAAA ATCTTCAGAA ACTTCTGGCT GAGATAATTC
 CATTTTTCTT

  Submitted Frequency for ss342373171 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=0.88897401
C/T=0.10256800
T/T=0.00845800
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342373171 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=0.93252748
T=0.06747252C/C=0.87252748
C/T=0.12000000
T/T=0.00747253
Pr(chiSq=4.900,df=1)
=0.050
Genotype
Freq.

  Submitted individual genotype for ss342373171 back to top
There is no individual genotype data for ss342373171.