Submitted SNP(ss) Details: ss341928567

Submitted SNP(ss) Details: ss341928567

Submitter
Handle	NHLBI-ESP
Submitter SNP ID	ESP2500-chr1-6488442
RefSNP(rs#)	rs139223525
Submitted Batch ID	ESP6500SI
Submitted Date	Feb 20, 2013
Publication Cited	N.D.
First entry to dbSNP	Mar 25 2011 12:00:00:000AM

Resource Links
Submitted Gene Name	N.D
Submitted Gene ID	N.D.
Submitted SNP Synonyms	N.D
Submitted linkout	N.D

Assay
Species	Homo sapiens
Molecular Type	Genomic
Method	EXOME CAPTURE AND SEQUENCING
Ascertainment Samplesize	13002
Population	ESP_Cohort_Populations

Allele
Observed Allele	A/T
Ancestral Allele	N.D.
Allele Origin	N/A
SNP Class	SNV
CpG Code	N.D.

Validation
Validation Status	Not Validated
HWE Goodness of Fit	not applicable

Variation
Frequency Submission	population count: 1
Genotype Summary	population count: 1
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 CGAGGTGGTG AACTGGCTCT TGCATCATGG CGGTGGGGAC CCCACCGCGG CCACAGACAT
 GGGCGCCCTG CCTATCCACT ACGCTGCCGC CAAAGGAGAC
 W
 TCCCCTCCCT GAGGCTTCTC GTCGAGCACT ACCCTGAGTA AGATCACCCC TCTTAAGGGG
 TCCTCTGGGT GGGCTGGGCC AGGGCTTTGG GGGATGCCTG

Submitted Frequency for ss341928567

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	13002				T/T=0.99969202 A/T=0.00030800 A/A=0.00000000		ESP6500SI	NHLBI-ESP

dbSNP summary of Genotypes for ss341928567

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
ESP_Cohort_Populations - NORTH AMERICA	4532	4532	T=0.99977934	C=0.00022065	T/T=0.99955869 C/T=0.00044131 C/C=0.00000000	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss341928567

There is no individual genotype data for ss341928567.

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