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dbSNP
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Reference SNP (refSNP) Cluster Report: rs554008981                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:142/151
Map to Genome Build:108/Weight 1
Validation Status:byFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0154/6 (ExAC)
A=0.0034/17 (1000 Genomes)
A=0.0078/977 (TOPMED)
HGVS Names
  • CM000663.2:g.13550G>A
  • CM000663.2:g.13550G>C
  • NC_000001.10:g.13550G>A
  • NC_000001.11:g.13550G>A
  • NC_000001.11:g.13550G>C
  • NR_046018.2:n.793G>A
  • NR_046018.2:n.793G>C
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss1289335469 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs554008981 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss12893354691000GENOMES|PHASE3_V1_35fwd/A/Ggcccgctggagacggtgtttgtcatggcctggtctgcagggatcctgcta08/16/1408/16/14142Genomicunknown
ss1685216847EVA_EXAC|EXAC_0.3.1:g13550g>afwd/A/Ggcccgctggagacggtgtttgtcatggcctggtctgcagggatcctgcta03/04/1503/04/15144Genomicunknown
ss2730985374GNOMAD|exomes_rs554008981fwd/A/Ggcccgctggagacggtgtttgtcatggcctggtctgcagggatcctgcta05/17/1705/17/17151Genomicunknown
ss2746168649GNOMAD|coding_rs554008981fwd/A/Ggcccgctggagacggtgtttgtcatggcctggtctgcagggatcctgcta05/17/1705/17/17151Genomicunknown
ss2750601189GNOMAD|rs554008981fwd/A/Ggcccgctggagacggtgtttgtcatggcctggtctgcagggatcctgcta05/17/1705/17/17151Genomicunknown
ss2986141266SWEGEN|NC_000001.10:g.13550G>Afwd/A/Ggcccgctggagacggtgtttgtcatggcctggtctgcagggatcctgcta05/30/1705/30/17151Genomicunknown
ss3343271450CSHL|LID=SNVhg19:chr1:13550fwd/A/Ggcccgctggagacggtgtttgtcatggcctggtctgcagggatcctgcta10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs554008981|allelePos=26|totalLen=51|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 GCCCGCTGGA GACGGTGTTT GTCAT
 V
 GGCCTGGTCT GCAGGGATCC TGCTA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1289335469EAS 1008AF 1.00000000
EUR 1006AF 0.008000000.99200004
AFR 1322AF 0.000800000.99919999
AMR 694AF 0.010100000.98989999
SAS 978AF 0.001000000.99899995
ss1685216847ExAc_Aggregated_Populations 11236AF 0.002847990.99715203

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.030+/-0.1190000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN