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Submitted SNP(ss) Details: ss342253589           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr8-18080196
RefSNP(rs#)rs4986783
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 Samplesize4538
PopulationN.D.
Allele
Observed AlleleT/G
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|ss342253589|allelePos=251|len=501|taxid=9606|alleles='T/G'|mol=Genomic
 GATGTGGCAG CCTCTGGAGT TAATTTCTGG GAAGGATCAG CCTCAGGTGC CTTGTGTCTT
 CCGTTTGACG GAAGAGAATG GATTCTGGTA TCTAGACCAA ATCAGAAGGG AACAGTACAT
 TCCAAATGAA GAATTTCTTC ATTCTGATCT CCTAGAAGAC AGCAAATACC GAAAAATCTA
 CTCCTTTACT CTTAAGCCTC GAACAATTGA AGATTTTGAG TCTATGAATA CATACCTGCA
 GACATCTCCA
 K
 CATCTGTGTT TACTAGTAAA TCATTTTGTT CCTTGCAGAC CCCAGATGGG GTTCACTGTT
 TGGTGGGCTT CACCCTCACC CATAGGAGAT TCAATTATAA GGACAATACA GATCTAATAG
 AGTTCAAGAC TCTGAGTGAG GAAGAAATAG AAAAAGTGCT GAAAAATATA TTTAATATTT
 CCTTGCAGAG AAAGCTTGTG CCCAAACATG GTGATAGATT TTTTACTATT TAGAATAAGG
 AGTAAAACAA

  Submitted Frequency for ss342253589 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 		13006T/T=0.96632302
G/T=0.03321500
G/G=0.00046100
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss342253589 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 		45384538T=0.98501545
G=0.01498458T/T=0.97091228
G/T=0.02820626
G/G=0.00088145
Pr(chiSq=4.494,df=1)
=0.050		Genotype
Freq.

  Submitted individual genotype for ss342253589 back to top
There is no individual genotype data for ss342253589.

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