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Submitted SNP(ss) Details: ss341945949           
Submitter
HandleNHLBI-ESP
Submitter SNP IDESP2500-chr1-25633172
RefSNP(rs#)rs138235491
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 Samplesize4032
PopulationN.D.
Allele
Observed AlleleT/C
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|ss341945949|allelePos=251|len=501|taxid=9606|alleles='T/C'|mol=Genomic
 CCCCGATGAT GTGAGTGCAC ATTCAAGTCT GAGAAGGGCT TCTTTGAGGT GAGCCTTAGT
 GCCCATCCCC CTTTGGTGGC CCCGGATACC AAGGGTGTGT GAAAGGGGTG GGTAGGGAAT
 ATGGGTCTCA CCTGCCAATC TGCTTATAAT AACACTTGTC CACAGGGGTG TTGTAACCGA
 GTGCTGGGGA TTCCCCACAG CTCCATCATG GGCTACAACT TCAGCTTGCT GGGTCTGCTT
 GGAGAGATCA
 Y
 CTACATTGTG CTGCTGGTGC TTGATACCGT CGGAGCCGGC AATGGCATGT GGGTCACTGG
 GCTTACCCCC CATCCCCTTA ACACTCCCCT CCAACTCAGG AAGAAATGTG TGCAGAGTCC
 TTAGCTGGGG CGTGTGCACT CGGGGCCAGG TGCTCAGTAG GCTTCGGTGA ATATTTGTTG
 GCTGATTTAT TCAGAAATTC TGTCCAGCCC CTACCTTGGA TGGATTTATC ACCTCTCCAG
 GCCACCTCTT

  Submitted Frequency for ss341945949 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
11764T/T=0.99625999
C/T=0.00340000
C/C=0.00034000
ESP6500SINHLBI-ESP


  dbSNP summary of Genotypes for ss341945949 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
40324032T=0.99776787
C=0.00223214T/T=0.99553573
C/T=0.00446429
C/C=0.00000000
Pr(chiSq=0.010,df=1)
=1.000
Genotype
Freq.

  Submitted individual genotype for ss341945949 back to top
There is no individual genotype data for ss341945949.

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