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Submitted SNP(ss) Details: ss342168331           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr4-100239319
RefSNP(rs#)rs1229984
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 Samplesize4552
PopulationN.D.
Allele
Observed AlleleT/C
Ancestral AlleleN.D.
Allele OriginG:Germline A: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|ss342168331|allelePos=251|len=501|taxid=9606|alleles='T/C'|mol=Genomic
 GGAAACTCCT GAAGTCCTGG CTGCGCGGTG ACCTTGTGCA AGCACTTTCG TCTCTCATTG
 CCTTGGTTTC CTTATCCAGG CTGGGAAATC CTGGATGGTG AACCACACGT GTTCCCTGAG
 TGTGAATCCT GTACCTGGTT TGACTGTAGT CACCCCTTCT CCAACACTCT CCACGATGCC
 GGCTGCCTCA TGGCCTAAAA TCACAGGAAG GGGGGTCACC AGGTTGCCAC TAACCACGTG
 GTCATCTGTG
 Y
 GACAGATTCC TACAGCCACC ATCTACAGAA TAAAGAGAAG CTGTTCAGAT TCAGAAAAGA
 TTGTAACTAG ATGAATTTAA CATACCCAAA TTCCTGAAAT TGTGTTTCTA AAATGTATTT
 GAGGGTTTTG CTACTAATCC CTACTATTCC TAAATATGAA AGATTCAGTT TATCCCCAAG
 GTTATTCAGT CTAAAGCCCT TCTCTACCTT CCCTTCTTGA ATTAAACAAT TTAGAATAAT
 CTGTGAAATA

  Submitted Frequency for ss342168331 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=0.93018597
C/T=0.06658500
T/T=0.00322900
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342168331 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
45524552C=0.96704745
T=0.03295255C/C=0.93585235
C/T=0.06239016
T/T=0.00175747
Pr(chiSq=1.011,df=1)
=0.317
Genotype
Freq.

  Submitted individual genotype for ss342168331 back to top
There is no individual genotype data for ss342168331.

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