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Submitted SNP(ss) Details: ss341923313           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr1-865705
RefSNP(rs#)rs146331776
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 Samplesize4148
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|ss341923313|allelePos=251|len=501|taxid=9606|alleles='C/T'|mol=Genomic
 CGGTCCAGCC CCACCTTCCT CTCCTCCTGC CCCACCTTCC TCTCCTCCTG CCCCACCTTC
 CTCTCCTCCT GCCCCACCAG AACCGGGGGC GGCTGGCAGA CAAGAGGACA GTCGCCCTGC
 CTGCCGCCCG GAACCTGAAG AAGGAGCGAA CTCCCAGCTT CTCTGCCAGC GATGGTGACA
 GCGACGGGAG TGGCCCCACC TGTGGGCGGC GGCCAGGCTT GAAGCAGGAG GATGGTCCGC
 ACATCCGTAT
 Y
 ATGAAGAGAA GGTACTTGGA CCAGGGCCGG ACAGGAAGGC GCAAGGCTCA GATGGGGCTG
 GAGCTTCAGG CCTTCAGCTG CTCAGATGAG AGTGTCCACA CCGGCCTCCC ACACCTTCCC
 TCAGATGCTG GTCTTTTTGG GGTCCTGTGT GGGTCGCAGG CAGGAGCTGT TTCCTCATCT
 GCCCCCTGTC TGGCGTCCCC TCCCACCTCT GCTCTGCGGC GCTCACTGGC AGAGGCAGGT
 TGGCAGCAGT

  Submitted Frequency for ss341923313 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
12980C/C=0.99660999
C/T=0.00339000
T/T=0.00000000
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss341923313 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
41484148C=0.99783027
T=0.00216972C/C=0.99566054
C/T=0.00433944
T/T=0.00000000
Pr(chiSq=0.010,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss341923313 back to top
There is no individual genotype data for ss341923313.

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