Submitted SNP(ss) Details: ss35040193

Submitted SNP(ss) Details: ss35040193

Submitter
Handle	EGP_SNPS
Submitter SNP ID	MMP12-003536
RefSNP(rs#)	rs608194
Submitted Batch ID	MMP12-EGP_YORUB-022405
Submitted Date	Feb 28, 2005
Publication Cited	[1] NIEHS Envirommental Genome Project (EGP) - (N01 ES-15478)
First entry to dbSNP	Feb 28 2005 12:00:00:000AM

Resource Links
GenBank Accession	AY856072
Submitted Gene Name	MMP12
Submitted Gene ID	4321
Submitted SNP Synonyms	N.D
Submitted linkout	N.D

Assay
Species	Homo sapiens
Molecular Type	GENOMIC
Method	METHOD-E
Ascertainment Samplesize	22
Population	EGP_YORUB-PANEL

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

Validation
Validation Status
HWE Goodness of Fit	not applicable
Homozygote Detected	Y

Variation
Frequency Submission	population count: 5
Genotype Summary	population count: 5
Genotype Submission	N.D.
Haplotype	N.D.

Fasta sequence (Legend)

 TTTTCTTTTT TTTGAGACAG GGTCTGTGTC TGTCATCCAG GCTGGAGTGC AGTGGTACAA
 TCACGGCTCA CTGCAGCTTC TACCTCCCAA GCTCAAGTGA TCCTCTCACC TCAGCCTCCT
 GAGTAGCTGG GACTACAGGC ATGCACCAAC GCTCTGGGAT AATTTTTGTG TTTTTTGTAC
 AGAGGAGGTT TCGCCATGTT GTCCAGGCTA GTCTTGAACT CCTGGGCTCA AGAAATCCTC
 CTGCCTCAGC CTCCC
 R
 AAATGCTGGG ATTACAGGCC TGAGCTACTG CTCCTGGCTG ACATGTCTTT GATAGCACAA
 AAAATTAAGG TTTTTTTTCC TGATTATAAT TAATTGTCCA AAAAACAATA ATCTAACCTG
 TGAGTAAGAT GTGCAAAATT CCTGGTCCAA AAGCATCAGT GTGCAATTGA GTCATATATG
 TGGAGCTCCC AACAGAAATT TTCTGTGTGT ACTTACACAT TGCTGAATGT ATTTTTTTTT
 CCAGAGATAC TTAGA

Submitted Frequency for ss35040193

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_AD-PANEL	28	G=0.57142901	A=0.42857099	MMP12-EGP_AD-022405	EGP_SNPS
EGP_ASIAN-PANEL	48	G=0.81250000	A=0.18750000	MMP12-EGP_ASIAN-022405	EGP_SNPS
EGP_CEPH-PANEL	42	G=0.80952400	A=0.19047600	MMP12-EGP_CEPH-022405	EGP_SNPS
EGP_HISP-PANEL	44	G=0.95454502	A=0.04545500	MMP12-EGP_HISP-022405	EGP_SNPS
EGP_YORUB-PANEL	22	G=0.72727299	A=0.27272701	MMP12-EGP_YORUB-022405	EGP_SNPS

dbSNP summary of Genotypes for ss35040193

Population ID -Class	Total Sample (2N)	Founder (2N)	Major Allele Freq.	Minor Allele Freq.	Genotype Freq.	HWE Goodness of Fit	Data Source
EGP_YORUB-PANEL	22	22	G=0.72727275	A=0.27272728	G/G=0.54545456 A/G=0.36363637 A/A=0.09090909	Pr(chiSq=0.076,df=1) =1.000	Genotype Freq.
EGP_HISP-PANEL	44	44	G=0.95454544	A=0.04545455	G/G=0.90909094 A/G=0.09090909	Pr(chiSq=0.004,df=1) =1.000	Genotype Freq.
EGP_CEPH-PANEL	42	42	G=0.80952382	A=0.19047619	G/G=0.61904764 A/G=0.38095239	Pr(chiSq=0.401,df=1) =0.527	Genotype Freq.
EGP_AD-PANEL	28	28	G=0.57142860	A=0.42857143	A/G=0.85714287 G/G=0.14285715	Pr(chiSq=5.304,df=1) =0.025	Genotype Freq.
EGP_ASIAN-PANEL	48	48	G=0.81250000	A=0.18750000	G/G=0.62500000 A/G=0.37500000	Pr(chiSq=0.434,df=1) =0.527	Genotype Freq.

Submitted individual genotype for ss35040193

There is no individual genotype data for ss35040193.

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