Submitted SNP(ss) Details: ss2088927

Submitted SNP(ss) Details: ss2088927

Submitter
Handle	TSC-CSHL
Submitter SNP ID	TSC0370238
RefSNP(rs#)	rs1320571
Submitted Batch ID	001018_20
Submitted Date	Oct 19, 2000
Publication Cited	N.D.
First entry to dbSNP	Oct 19 2000 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	TSC-SANGER-19-26
Ascertainment Samplesize	10
Population	N.D.

Allele
Observed Allele	A/G
Ancestral Allele
Allele Origin	N/A
SNP Class	SNV
CpG Code	nonCpG

Validation
Validation Status
HWE Goodness of Fit	not applicable

Variation
Frequency Submission	population count: 1
Genotype Summary	population count: 13
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 GATGTTCTCT TGGGGACCCC CGTGAGGACA GGCCCTCCAG ACAGTCTGGG AGCCAGTCTC
 CAGGCACCGT GTGCCCCCAG TTCATGCAGA AGAAGAGCCC TCTGTACATG CTGCTGAAGG
 AGCACACGGT GTGGAGCATG GAACACCTCA ACCGCTACAT CA
 R
 TGACACGTTC TGGAAGGCCC GGGGCCTCGC CAAGGACTGG GTCTTCACCA CCCTCAAGGT
 GCGTCCACTG TGCCCTCCAG TCTGGGAGTG AGATCCCTCG GGGCGGGGGT GTGTGGTCAG
 GCTGGGCACC AGGCACACAG ATGTCCGTGG CGTGCGTGGG CGGCTGCGCT GAAGTGTGAC
 CTGACCGTGT GGAACCAAAC CCTTCCAGCG TCTCTGCTCA CTTAGCTGGC AGTGCCTGTC
 CCCAGCAGCC AGCAAAGGCC CGGACGGAAA GCCCAGTCGG GGGTCTGTCG GCACGAGTCC
 CGCGGGCAGC CTCGCCGTAG GGTCAGGGGA CAGCTCGGCT TCAGTGACAG CCACCATGTG
 AAGAGTCTTT GTTCCTTTCA GATCCTCCAC TTGGCAGGCA GGGCCAACAG CAGCCCCCGG
 GCCAGGTGTC CTGGAGCAGC AGCA

Submitted Frequency for ss2088927

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Estimated Heterozygosity +/-std.err.	Genotype Freq.	Submitted Hetero- zygosity	Submission Batch	Submitter
CEPH - MULTI-NATIONAL	184	G=0.98000002	A=0.02000000	0.039 +/-0.028			1_2004	SEQUENOM

dbSNP summary of Genotypes for ss2088927

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
HapMap-CEU	224	224	G=0.96428573	A=0.03571429	G/G=0.92857140 A/G=0.07142857	Pr(chiSq=0.011,df=1) =1.000	Genotype Freq.
HapMap-HCB - EAST ASIA	86	86	G=0.88372093	A=0.11627907	G/G=0.76744187 A/G=0.23255815	Pr(chiSq=0.163,df=1) =0.752	Genotype Freq.
HapMap-JPT	172	172	G=0.83139533	A=0.16860466	G/G=0.70930231 A/G=0.24418604 A/A=0.04651163	Pr(chiSq=1.431,df=1) =0.251	Genotype Freq.
HapMap-YRI	226	226	G=0.56637168	A=0.43362832	A/G=0.49557522 G/G=0.31858408 A/A=0.18584071	Pr(chiSq=0.009,df=1) =1.000	Genotype Freq.
HAPMAP-ASW	98	98	G=0.71428573	A=0.28571430	G/G=0.51020408 A/G=0.40816328 A/A=0.08163265	Pr(chiSq=0.000,df=1) =1.000	Genotype Freq.
HAPMAP-CHB	82	82	G=0.81707317	A=0.18292683	G/G=0.68292683 A/G=0.26829270 A/A=0.04878049	Pr(chiSq=0.431,df=1) =0.527	Genotype Freq.
HAPMAP-CHD	170	170	G=0.87058824	A=0.12941177	G/G=0.78823531 A/G=0.16470589 A/A=0.04705882	Pr(chiSq=6.153,df=1) =0.020	Genotype Freq.
HAPMAP-GIH	176	176	G=0.80681819	A=0.19318181	G/G=0.64772725 A/G=0.31818181 A/A=0.03409091	Pr(chiSq=0.038,df=1) =1.000	Genotype Freq.
HAPMAP-LWK	180	180	G=0.56666666	A=0.43333334	A/G=0.51111114 G/G=0.31111112 A/A=0.17777778	Pr(chiSq=0.149,df=1) =0.752	Genotype Freq.
HAPMAP-MEX	100	100	G=0.97000003	A=0.03000000	G/G=0.94000000 A/G=0.06000000	Pr(chiSq=0.003,df=1) =1.000	Genotype Freq.
HAPMAP-MKK	286	286	G=0.65384614	A=0.34615386	G/G=0.44755244 A/G=0.41258740 A/A=0.13986014	Pr(chiSq=1.121,df=1) =0.294	Genotype Freq.
HAPMAP-TSI	176	176	G=0.95454544	A=0.04545455	G/G=0.92045456 A/G=0.06818182 A/A=0.01136364	Pr(chiSq=4.041,df=1) =0.050	Genotype Freq.

Submitted individual genotype for ss2088927

There is no individual genotype data for ss2088927.

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