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Submitted SNP(ss) Details: ss23143750           
Submitter
HandlePARC
Submitter SNP IDAPOB-005255
RefSNP(rs#)rs531819
Submitted Batch IDAPOB-AFRICAN-051304
Submitted DateMay 17, 2004
Publication Cited[1] Pharmacogenetics and Risk of Cardiovascular Disease
First entry to dbSNPMay 17 2004 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
GENOMIC
MethodMETHOD-E
Ascertainment Samplesize44
PopulationPARC-AFRICAN-PANEL
Allele
Observed AlleleA/C
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeUnknown
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Homozygote DetectedY
Variation
Frequency SubmissionN.D.
Genotype Summarypopulation count: 6
Genotype SubmissionN.D.
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss23143750|allelePos=256|len=511|taxid=9606|alleles='A/C'|mol=Genomic
 AAGAGGTGTA TGGCTTCAAC CCTGAGGGCA AAGCCTTGCT GAAGAAAACC AAGAACTCTG
 AGGAGTTTGC TGCAGCCATG TCCAGGTAAG TCATGTTGTA CATGAGCACA CGCATGTGTG
 TGTGTCCGCT GAGGTATGAA CTTGTGTGTT TGCACCAGGC ACGGATGTGA CTGTAAGTAT
 TTGTATTCCG TATCCATCGT GGATCAGGGA ATTACTGAGT TTTCACAATC ATCAAAAAGA
 GAGAAGCATT AGTTA
 M
 CCTTCCCTAG TTAGGTTCCT TTAATTATCA TTTTCATGTG TTTCTAAAAA TCTCATGCTT
 TAAACTTCTT GAGATTATAA AACTGAGATG CTTTGTTTAA ACAAGTGAAT TCTTATTTAA
 AGAACTAGTC AAGACTAGTG CTTGGTGGTC TTTGGTGTGG GGTCCCAGAG GCACTGGCTG
 CTGTGGCCGG CACATGGCGG GGCAGGGTCT GTTCACCGCA GGGCAGAGGA GCACCAAGGC
 TTCGGTGGCT CCCCC

  Submitted Frequency for ss23143750 back to top
There is no frequency submission for ss23143750.


  dbSNP summary of Genotypes for ss23143750 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
PARC-AFRICAN-PANEL4444C=0.77272725
A=0.22727273C/C=0.59090906
A/C=0.36363637
A/A=0.04545455
Pr(chiSq=0.027,df=1)
=1.000
Genotype
Freq.
PARC-EUROPEAN-PANEL4242C=0.80952382
A=0.19047619C/C=0.66666669
A/C=0.28571430
A/A=0.04761905
Pr(chiSq=0.114,df=1)
=0.752
Genotype
Freq.
HapMap-CEU120120C=0.79166669
A=0.20833333C/C=0.63333333
A/C=0.31666666
A/A=0.05000000
Pr(chiSq=0.096,df=1)
=1.000
Genotype
Freq.
HapMap-YRI120120C=0.72500002
A=0.27500001C/C=0.56666666
A/C=0.31666666
A/A=0.11666667
Pr(chiSq=2.542,df=1)
=0.150
Genotype
Freq.

  Submitted individual genotype for ss23143750 back to top
There is no individual genotype data for ss23143750.

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