Submitted SNP(ss) Details: ss38349853

Submitted SNP(ss) Details: ss38349853

Submitter
Handle	EGP_SNPS
Submitter SNP ID	PTEN-105493
RefSNP(rs#)	rs701848
Submitted Batch ID	PTEN-EGP_YORUB-060105
Submitted Date	Jul 07, 2005
Publication Cited	[1] NIEHS Envirommental Genome Project (EGP) - (N01 ES-15478)
First entry to dbSNP	Jul 7 2005 12:00:00:000AM

Resource Links
GenBank Accession	DQ073384
Submitted Gene Name	PTEN
Submitted Gene ID	5728
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	C/T
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)

 TACTTGAATA CTGAATACAT ATAATGTTTA TATTAAAAAG GACATTTGTG TTAAAAAGGA
 AATTAGAGTT GCAGTAAACT TTCAATGCTG CACACAAAAA AAAGACATTT GATTTTTCAG
 TAGAAATTGT CCTACATGTG CTTTATTGAT TTGCTATTGA AAGAATAGGG TTTTTTTTTT
 TTTTTTTTTT TTTTTTTTTA AATGTGCAGT GTTGAATCAT TTCTTCATAG TGCTCCCCCG
 AGTTGGGACT AGGGC
 Y
 TCAATTTCAC TTCTTAAAAA AAATCATCAT ATATTTGATA TGCCCAGACT GCATACGATT
 TTAAGCGGAG TACAACTACT ATTGTAAAGC TAATGTGAAG ATATTATTAA AAAGGTTTTT
 TTTTCCAGAA ATTTGGTGTC TTCAAATTAT ACCTTCACCT TGACATTTGA ATATCCAGCC
 ATTTTGTTTC TTAATGGTAT AAAATTCCAT TTTCAATAAC TTATTGGTGC TGAAATTGTT
 CACTAGCTGT GGTCT

Submitted Frequency for ss38349853

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_AD-PANEL	30	T=0.76666701	C=0.23333301	PTEN-EGP_AD-060105	EGP_SNPS
EGP_CEPH-PANEL	44	T=0.70454502	C=0.29545501	PTEN-EGP_CEPH-060105	EGP_SNPS
EGP_HISP-PANEL	44	T=0.68181801	C=0.31818199	PTEN-EGP_HISP-060105	EGP_SNPS
EGP_ASIAN-PANEL	48	T=0.58333302	C=0.41666701	PTEN-EGP_ASIAN-060105	EGP_SNPS
EGP_YORUB-PANEL	22	T=0.81818199	C=0.18181799	PTEN-EGP_YORUB-060105	EGP_SNPS

dbSNP summary of Genotypes for ss38349853

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	T=0.81818181	C=0.18181819	T/T=0.72727275 C/T=0.18181819 C/C=0.09090909	Pr(chiSq=1.664,df=1) =0.200	Genotype Freq.
EGP_HISP-PANEL	44	44	T=0.68181819	C=0.31818181	C/T=0.54545456 T/T=0.40909091 C/C=0.04545455	Pr(chiSq=1.455,df=1) =0.251	Genotype Freq.
EGP_CEPH-PANEL	44	44	T=0.70454544	C=0.29545453	T/T=0.54545456 C/T=0.31818181 C/C=0.13636364	Pr(chiSq=1.223,df=1) =0.273	Genotype Freq.
EGP_AD-PANEL	30	30	T=0.76666665	C=0.23333333	T/T=0.60000002 C/T=0.33333334 C/C=0.06666667	Pr(chiSq=0.070,df=1) =1.000	Genotype Freq.
EGP_ASIAN-PANEL	48	48	T=0.58333331	C=0.41666666	C/T=0.58333331 T/T=0.29166666 C/C=0.12500000	Pr(chiSq=0.960,df=1) =0.343	Genotype Freq.

Submitted individual genotype for ss38349853

There is no individual genotype data for ss38349853.

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