Submitted SNP(ss) Details: ss48532394

Submitted SNP(ss) Details: ss48532394

Submitter
Handle	EGP_SNPS
Submitter SNP ID	SMARCB1-017928
RefSNP(rs#)	rs5751738
Submitted Batch ID	SMARCB1-EGP_ASIAN-100705
Submitted Date	Oct 13, 2005
Publication Cited	[1] NIEHS Envirommental Genome Project (EGP) - (N01 ES-15478)
First entry to dbSNP	Oct 13 2005 12:00:00:000AM

Resource Links
GenBank Accession	DQ230988
Submitted Gene Name	SMARCB1
Submitted Gene ID	6598
Submitted SNP Synonyms	N.D
Submitted linkout	N.D

Assay
Species	Homo sapiens
Molecular Type	GENOMIC
Method	METHOD-E
Ascertainment Samplesize	48
Population	EGP_ASIAN-PANEL

Allele
Observed Allele	C/G/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)

 GAAAATTTGC ATACCTAGGG CTCCGGCCCC CTCGCTGACT GTTGCTTCCA TTTCACTTTC
 AGCTTTGATG ACCATGACCC AGCTGTGATC CATGAGAACG CATCTCAGCC CGAGGTGCTG
 GTCCCCATCC GGCTGGACAT GGAGATCGAT GGGCAGAAGC TGCGAGACGC CTTCACCTGG
 AACATGAATG GTACAAGGCA GTCGGGCTTG GCTGGGCCTG GCCCCAACCC CTGTGTGTTA
 CGTGGGAACA GTCCC
 B
 TTTCCTGCCA GCTGCCTGTC AGGCAGATTC TGGACCTGAC ACGCAGGACA TTGGGGCATA
 GTTTTGGAGG GTGTGGGCTC TGGGTTCAGT CCTGGTTCTG TTGCTGTTCA CTGTGGATTG
 GGCCTGTGAA CTTTGGACTC TTTCCCCATA CTGAGGTTGG GTGGCCCAAG AGGCCTGGCA
 TGGGAGGCGG CTGATCTGCA TAGCATGGAT GATGATGACA ATGCCAGTCA GACCTAGTTC
 AGCCCCCGAG CCCTG

Submitted Frequency for ss48532394

Population ID -Class	Sample (2n)	Major Allele Freq.	Minor Allele Freq.	Submission Batch	Submitter
EGP_YORUB-PANEL	24	C=0.95833302 T=0.04166700	G=0.00000000	SMARCB1-EGP_YORUB-100705	EGP_SNPS
EGP_ASIAN-PANEL	48	C=0.68750000 G=0.31250000	T=0.00000000	SMARCB1-EGP_ASIAN-100705	EGP_SNPS
EGP_AD-PANEL	30	C=1.00000000	G=0.00000000 T=0.00000000	SMARCB1-EGP_AD-100705	EGP_SNPS
EGP_HISP-PANEL	42	C=0.76190501 G=0.23809500	T=0.00000000	SMARCB1-EGP_HISP-100705	EGP_SNPS
EGP_CEPH-PANEL	44	C=0.97727299 G=0.02272700	T=0.00000000	SMARCB1-EGP_CEPH-100705	EGP_SNPS

dbSNP summary of Genotypes for ss48532394

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	24	24	C=0.95833331	T=0.04166667	C/C=0.91666669 C/T=0.08333334	Pr(chiSq=0.002,df=1) =1.000	Genotype Freq.
EGP_HISP-PANEL	42	42	C=0.76190478	G=0.23809524	C/C=0.61904764 C/G=0.28571430 G/G=0.09523810	Pr(chiSq=0.948,df=1) =0.343	Genotype Freq.
EGP_CEPH-PANEL	44	44	C=0.97727275	G=0.02272727	C/C=0.95454544 C/G=0.04545455	Pr(chiSq=0.001,df=1) =1.000	Genotype Freq.
EGP_ASIAN-PANEL	48	48	C=0.68750000	G=0.31250000	C/C=0.45833334 C/G=0.45833334 G/G=0.08333334	Pr(chiSq=0.107,df=1) =0.752	Genotype Freq.

Submitted individual genotype for ss48532394

There is no individual genotype data for ss48532394.

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