Submitted SNP(ss) Details: ss12992583

Submitted SNP(ss) Details: ss12992583

Submitter
Handle	SC_SNP
Submitter SNP ID	NT_004321.15_1048783
RefSNP(rs#)	rs9424290
Submitted Batch ID	CHR1_Overlap_SNPs
Submitted Date	Oct 22, 2003
Publication Cited	[1] Overlap SNPs found by comparing shotgun reads to NCBI Genomic Reference Sequence using SsahaSNP [2] SSAHA: A Fast Search Method for Large DNA Databases
First entry to dbSNP	Oct 22 2003 12:00:00:000AM

Resource Links
GenBank Accession	NT_004321
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	CHR1_OVERLAP_SNPS
Ascertainment Samplesize	14
Population	N.D.

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

Validation
Validation Status
HWE Goodness of Fit	not applicable

Variation
Frequency Submission	N.D.
Genotype Summary	population count: 6
Genotype Submission	N.D.
Haplotype	N.D.

Comment

sequence:1bB531C17-23d07.q1cposition:477quality:40sequence:1bB531C17-23c06.q1cposition:512quality:40sequence:1bB15E13-2o18.p1kposition:-234quality:43sequence:1bB15E13-2k11.p1kposition:-259quality:45sequence:1bB531C17-3b07.q1cposition:-299quality:51sequence:1bB531C17-19e06.q1cposition:-197quality:40sequence:1bB531C17-3h01.p1cposition:-204quality:56sequence:1bB531C17-19h10.q1cposition:601quality:24sequence:1bB531C17-15h11.q1cposition:510quality:26sequence:1bB531C17-3b06.q1cposition:-91quality:37sequence:1bB15E13-3b19.p1kposition:410quality:56sequence:1bB15E13-2d13.p1kposition:513quality:56sequence:1bB15E13-2l09.p1kposition:-139quality:45

Fasta sequence (Legend)

 AGCACACCTG GCAATCCCAC AACACATTGT GAACCCAAGA AAGTGCATTC CTGTGCATCC
 TGGAAGACAC CAGAACGCTG TGGCAACATT GTTTATCATG GTCCCAAACT GGACGCAGCC
 CTGGCGCACA GCGGAAGGTG GATGAAGGTG CTGTGGTCCA TTCAAGCAGT GGACACTATA
 AAGCAAGAAA TCCAACATGA
 Y
 GCCACATGGT TCCGTTTCTA CAAAGCTCAA AGAGCAAGGA GGACCCATTT GTGGTGTCAG
 AAATCAGACC CCTGCTGACT CTGGAAGGAG CCCCGAGGGG AGGTGGCGGC ACAGCATGTT
 TCCGGTTCAC TGGGCTGTCT GTCATATGGA ATGACTCGCA CGCATTTGCG GGTGTGTGCT
 TGGCTTCAGT TACTTTTCTC

Submitted Frequency for ss12992583

There is no frequency submission for ss12992583.

dbSNP summary of Genotypes for ss12992583

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
HapMap-CEU	114	114	C=0.92105263	T=0.07894737	C/C=0.85964912 C/T=0.12280702 T/T=0.01754386	Pr(chiSq=1.379,df=1) =0.251	Genotype Freq.
HapMap-HCB - EAST ASIA	90	90	T=0.67777777	C=0.32222223	T/T=0.48888889 C/T=0.37777779 C/C=0.13333334	Pr(chiSq=0.821,df=1) =0.371	Genotype Freq.
HapMap-JPT	90	90	T=0.57777780	C=0.42222223	C/T=0.53333336 T/T=0.31111112 C/C=0.15555556	Pr(chiSq=0.390,df=1) =0.584	Genotype Freq.
HapMap-YRI	120	120	C=0.97500002	T=0.02500000	C/C=0.94999999 C/T=0.05000000	Pr(chiSq=0.002,df=1) =1.000	Genotype Freq.

Submitted individual genotype for ss12992583

There is no individual genotype data for ss12992583.

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