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Reference SNP (refSNP) Cluster Report: rs114047292                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0130/65 (1000 Genomes)
T=0.0258/3243 (TOPMED)
HGVS Names
  • CM000666.2:g.729679C>T
  • NC_000004.11:g.723468C>T
  • NC_000004.12:g.729679C>T
  • NM_001317836.1:c.-288-951C>T
  • NM_006315.5:c.-189-951C>T
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 ss232222192 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs114047292 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
ss2322221921000GENOMES|pilot_1_CEU_1826821_chr4_713468fwd/C/Tccttatatttgcctgggaagactaactctatctttcccttcttcctccctttttatgtaa05/01/1005/01/10132Genomicunknown
ss536452859ILLUMINA|HumanOmni5-4v1_B_kgp9406086-0_B_F_1904744937fwd/BC/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta06/22/1208/28/15146Genomicunknown
ss979664448EVA-GONL|EVA-GONL_rs114047292fwd/BC/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta04/23/1404/24/14142Genomicunknown
ss13080548571000GENOMES|PHASE3_V1_19491134fwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta08/16/1408/16/14142Genomicunknown
ss1429736950DDI|DDI_rs114047292fwd/BC/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta11/04/1411/05/14144Genomicunknown
ss1580377344EVA_GENOME_DK|EVA_GENOME_DK_snv_rs114047292fwd/BC/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta02/19/1502/20/15144Genomicunknown
ss1589161438EVA_DECODE|EVA_DECODE_4_713468_5644_rs114047292fwd/BC/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta03/02/1503/03/15144Genomicunknown
ss1609220098EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_4_723468_10810745fwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta03/04/1503/04/15144Genomicunknown
ss1652214131EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_4_723468_10810745fwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta03/04/1503/04/15144Genomicunknown
ss1922894408WEILL_CORNELL_DGM|SNV:chr4:723468fwd/BC/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta10/16/1510/17/15147Genomicunknown
ss2022021428JJLAB|SNP2523983fwd/BC/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta08/29/1608/30/16149Genomicunknown
ss2150126424USC_VALOUEV|NC_000004.11:g.723468C>Tfwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta11/17/1611/17/16150Genomicunknown
ss2259754631HUMAN_LONGEVITY|HLI-4-729679-C-Tfwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta11/18/1611/18/16150Genomicunknown
ss2427153371TOPMED|4_723468_C/Tfwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta11/20/1611/20/16150Genomicunknown
ss2804591727GNOMAD|rs114047292fwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta05/18/1705/18/17151Genomicunknown
ss2993978752SWEGEN|NC_000004.11:g.723468C>Tfwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta05/30/1705/30/17151Genomicunknown
ss3345494035CSHL|rs114047292fwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta10/02/1710/02/17151Genomicunknown
ss3417995509TOPMED|TOPMed_freeze_5?chr4:729,679fwd/C/Ttatttgcctgggaagactaactctatctttcccttcttcctcccttttta10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs114047292|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GGTGCTCCAC GCCATGTGTG GTCAGCAGCT GTGCTGTTGG GTAGTGGAGA TGTGGAAGCC
 CCCAGTGTTG CAGAATATTC CGGAAGCCTG GCTTTGAGCC TGGCTTCATT CTCTTCATCT
 TGTTTCTCTT CTCCCTAACT CAAGTGCCTC AGACATGCCT GCTGATCTCC CCTTATATTT
 GCCTGGGAAG ACTAACTCTA
 Y
 TCTTTCCCTT CTTCCTCCCT TTTTATGTAA AAGTTAACTG AGCTTCAAAG ATTAGTTAAT
 AAAAAGTGCA GTTATGGGAA ACCGGAAGAG TAGAAATGAT ACAAACGGGG TAGAAAATGA
 AGAGCATGAA AGTATTTAAT CTCTGTCACT AAGCCACAGA CACTGTACGT CATCCCAGGC
 CCCCACTTTC CCCAGTCTGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000004
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.
SourceHWPC
T
ss1308054857EAS 1008AF 1.00000000
EUR 1006AF 0.965200010.03480000
AFR 1322AF 0.997000040.00300000
AMR 694AF 0.974099990.02590000
SAS 978AF 0.991800010.00820000
ss232222192pilot_1_CEU_low_coverage_panel 120AF 0.991666670.00833333

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.026+/-0.1100000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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