NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Submitted SNP(ss) Details: ss491789214           
Submitter
HandleCLINSEQ_SNP
Submitter SNP IDSNV-chr2-108241630
RefSNP(rs#)rs2219078
Submitted Batch IDSubmission1_FEB2012
Submitted DateMar 06, 2012
Publication Cited19602640
First entry to dbSNPMar 6 2012 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodAGILENTWHOLEEXOME
Ascertainment Samplesize1318
PopulationCSAgilent
Allele
Observed AlleleG/A
Ancestral AlleleN.D.
Allele OriginN/A
SNP ClassSNV
CpG CodeN.D.
Validation
Validation StatusbyFreq
HWE Goodness of Fitnot applicable
Variation
Frequency Submissionpopulation count: 1
Genotype Summarypopulation count: 1
Genotype SubmissionN.D.
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss491789214|allelePos=26|len=51|taxid=9606|alleles='G/A'|mol=Genomic
 GCTCTGACTT CTTCCAGTTG TTGGC
 R
 GGTCCTGGTT TGACCATGTG AAAGG

  Submitted Frequency for ss491789214 back to top

Population ID
 -Class
Sample
(2n)
Major
Allele
Freq.
Minor
Allele
Freq.
Estimated
Heterozygosity
+/-std.err.
Genotype
Freq.
Submitted
Hetero-
zygosity
Submission
Batch
Submitter
CSAgilent
EUROPE
1318G/G=0.63099998
A/G=0.31999999
A/A=0.04900000
Submission1_FEB2012CLINSEQ_SNP


  dbSNP summary of Genotypes for ss491789214 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
CSAgilent
EUROPE
13171317.99993896484G=0.79100001
A=0.20900001G/G=0.63099998
A/G=0.31999999
A/A=0.04900000
Pr(chiSq=0.682,df=1)
=0.439
Genotype
Freq.

  Submitted individual genotype for ss491789214 back to top
There is no individual genotype data for ss491789214.

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement