Submitted SNP(ss) Details: ss341925072

Submitted SNP(ss) Details: ss341925072

Submitter
Handle	NHLBI-ESP
Submitter SNP ID	ESP2500-chr1-1248051
RefSNP(rs#)	rs141782849
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	12986
Population	ESP_Cohort_Populations

Allele
Observed Allele	A/C
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)

 CTGCCCTGCC CAGCCCGCAT ACCCTGCGCC ATCTCCCGCT TCAGCAGCCC CAGCGAGATG
 CCTACGGGGA TGCTGGGGCT TGTGGGCAGC GTCACCGTCT
 M
 GCCATTGGCC GGCATGTAGC AGTTGACCCC TGGACCCCGG GGGAAGAGAG AGCCTCAGCC
 CAGGCTGCCC GTGCTGACCC GAGGTGGGCC CCACGCCGCC

Submitted Frequency for ss341925072

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	12986				C/C=0.99984598 A/C=0.00015400 A/A=0.00000000		ESP6500SI	NHLBI-ESP

dbSNP summary of Genotypes for ss341925072

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	4340	4340	C=0.99976957	T=0.00023041	C/C=0.99953920 C/T=0.00046083 T/T=0.00000000	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss341925072

There is no individual genotype data for ss341925072.

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