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: ss80750519           
Submitter
HandleKRIBB_YJKIM
Submitter SNP IDKHS1000257
RefSNP(rs#)rs54790
Submitted Batch IDKHB2007_2_FP-TDI
Submitted DateNov 26, 2007
Publication Cited16376517
First entry to dbSNPNov 26 2007 12:00:00:000AM
Assay
SpeciesHomo sapiens
Molecular
Type
Genomic
MethodFP-TDI
Ascertainment Samplesize178
PopulationKHP_Korean
Allele
Observed AlleleC/T
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: 2
Genotype SubmissionN.D.
HaplotypeN.D.

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|ss80750519|allelePos=139|len=345|taxid=9606|alleles='C/T'|mol=Genomic
 AGAAATACAT ACGAGTGGCA TTAAGGACAG GTGGTGGCTT CTTTTACCTA TTAAAGCATT
 CTTACACCAT ACTGTGAACT GTGTAAAAGG AAGGATCATT GGACATAATA GATTATCTGA
 CAGGGTGGTC CGGAATGG
 Y
 GGAAGTAAAT CGACAGGTGA GGACACTGAA TTAGCATTCA GACAGTGGGG ACCTCACACC
 TTGTATTCCC TTTTTTGGTA AGATTTTTAT TACCTCCTTA GAAAGAGGTA AATTCATCTA
 TTTCGAGCCC AAATTTTTCT GTCTAGATCT GCAATGCACG TGTGTACAAA AACCAGGGCC
 CAGCCAGGTA CGGTGGTGCG TGCCTA

  Submitted Frequency for ss80750519 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
KHP1
EAST ASIA
178T=0.55056202
C=0.44943801
C/T=0.42696601
T/T=0.33707899
C/C=0.23595500
KHB2007_2_FP-TDIKRIBB_YJKIM


  dbSNP summary of Genotypes for ss80750519 back to top

Population ID
 -Class
Total
Sample
(2N)
Founder
(2N)
Major
Allele
Freq.
Minor
Allele
Freq.
Genotype
Freq.
HWE Goodness of FitData
Source
KHP_Korean
EAST ASIA
178178T=0.55056179
C=0.44943821C/T=0.42696628
T/T=0.33707866
C/C=0.23595506
Pr(chiSq=1.676,df=1)
=0.200
Genotype
Freq.

  Submitted individual genotype for ss80750519 back to top
There is no individual genotype data for ss80750519.

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