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Submitted SNP(ss) Details: ss342316075           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr11-5248232
RefSNP(rs#)rs334
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/A
Ancestral AlleleN.D.
Allele OriginG:Germline T:Germline A:Germline C: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|ss342316075|allelePos=251|len=501|taxid=9606|alleles='T/A'|mol=Genomic
 CCAAAGGACT CAAAGAACCT CTGGGTCCAA GGGTAGACCA CCAGCAGCCT AAGGGTGGGA
 AAATAGACCA ATAGGCAGAG AGAGTCAGTG CCTATCAGAA ACCCAAGAGT CTTCTCTGTC
 TCCACATGCC CAGTTTCTAT TGGTCTCCTT AAACCTGTCT TGTAACCTTG ATACCAACCT
 GCCCAGGGCC TCACCACCAA CTTCATCCAC GTTCACCTTG CCCCACAGGG CAGTAACGGC
 AGACTTCTCC
 W
 CAGGAGTCAG ATGCACCATG GTGTCTGTTT GAGGTTGCTA GTGAACACAG TTGTGTCAGA
 AGCAAATGTA AGCAATAGAT GGCTCTGCCC TGACTTTTAT GCCCAGCCCT GGCTCCTGCC
 CTCCCTGCTC CTGGGAGTAG ATTGGCCAAC CCTAGGGTGT GGCTCCACAG GGTGAGGTCT
 AAGTGATGAC AGCCGTACCT GTCCTTGGCT CTTCTGGCAC TGGCTTAGGA GTTGGACTTC
 AAACCCTCAG

  Submitted Frequency for ss342316075 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=0.97261101
A/T=0.02723500
A/A=0.00015400
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342316075 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
45524552T=0.98506153
A=0.01493849T/T=0.97056240
A/T=0.02899824
A/A=0.00043937
Pr(chiSq=0.491,df=1)
=0.527
Genotype
Freq.

  Submitted individual genotype for ss342316075 back to top
There is no individual genotype data for ss342316075.

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