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Submitted SNP(ss) Details: ss341941940           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr1-21031046
RefSNP(rs#)rs2296226
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 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|ss341941940|allelePos=251|len=501|taxid=9606|alleles='C/T'|mol=Genomic
 GCCCTGCGCT CACATGGGGC TGAGGGGTGG GAGGATGCTG CTCCCACTGT CTTTTAGGTG
 GGAAGTTGGA GGCGAGAAGA CAGAGGGAAG GAAGCTTTCT CCTGGGGACC TGGCCCTCCC
 GCCACTACCC CAACGTGGTC CCACCTGACA GGCTGCTGGG GCTCATCTGC TGTGTCAGGA
 TGGCCTTGAG CTTCTTGATC TCCTCCTGGT ACTCGCGAAG CAGCGCATCC TTGGGGTCCT
 CATTGATGCG
 Y
 GGCTTGTTCC TGATGTTCTT GGCCCGGTTG GCGTAGCGCA GCGTGCTGAG TGTCTCATCG
 TAGTTGTTGT CCGCAGGCGA CAGGCAGGCC ACCATGAGCG TCTTGGTGTT GCCGCCCAGT
 GAGTCCTGCA GCAGCCGCGT CAGCTTCGAG TCACGGTAGG GGACGTGCTT ACAGCGCCCG
 TCCACCAGCG CCGAGATGAC ATTGCCCAGT GCCGAGAGCG ACAGGTTGAT CTTGGTGGCC
 TCCTTGAGCC

  Submitted Frequency for ss341941940 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=0.81731498
C/T=0.16530800
T/T=0.01737700
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss341941940 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=0.88796133
T=0.11203866C/C=0.79701233
C/T=0.18189807
T/T=0.02108963
Pr(chiSq=16.759,df=1)
=0.001
Genotype
Freq.

  Submitted individual genotype for ss341941940 back to top
There is no individual genotype data for ss341941940.

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