NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs72466456                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.00005/6 (ExAC)
C=0.0004/2 (1000 Genomes)
C=0.0003/4 (GO-ESP)
C=0.0002/19 (TOPMED)
HGVS Names
  • CM000670.2:g.18400032T>A
  • CM000670.2:g.18400032T>C
  • CM000670.2:g.18400032T>G
  • NC_000008.10:g.18257542T>A
  • NC_000008.10:g.18257542T>C
  • NC_000008.10:g.18257542T>G
  • NC_000008.11:g.18400032T>A
  • NC_000008.11:g.18400032T>C
  • NC_000008.11:g.18400032T>G
  • NG_012246.1:g.13788T>A
  • NG_012246.1:g.13788T>C
  • NG_012246.1:g.13788T>G
  • NM_000015.2:c.29T>A
  • NM_000015.2:c.29T>C
  • NM_000015.2:c.29T>G
  • NP_000006.2:p.Ile10Asn
  • NP_000006.2:p.Ile10Ser
  • NP_000006.2:p.Ile10Thr
  • XP_016868427.1:p.Ile10Asn
  • XP_016868427.1:p.Ile10Ser
  • XP_016868427.1:p.Ile10Thr
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 ss342253594 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs72466456 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
ss102664284LGH|NAT2-T29Cfwd/BC/Ttcatggacattgaagcatattttgaaagaatggctataagaactctaggaacaaattgga05/28/0805/28/08130Genomicunknown
ss342253594NHLBI-ESP|ESP2500-chr8-18257542byFreqfwd/BC/Ttcatggacattgaagcatattttgaaagaatggctataagaactctaggaacaaattgga03/25/1109/05/14134Genomicunknown
ss4602566241000GENOMES|20101123_snps_6423854_chr8_18257542fwd/C/Ttcatggacattgaagcatattttgaaagaatggctataagaactctaggaacaaattgga07/20/1107/20/11135Genomicunknown
ss4909607151000GENOMES|20110521_exome_468513_chr8_18257542fwd/BC/Ttcatggacattgaagcatattttgaaagaatggctataagaactctaggaacaaattgga02/10/1202/21/12137Genomicunknown
ss491410749EXOME_CHIP|nonsyn_126975_chr_8_18257542fwd/BC/Ttcatggacattgaagcatattttgaaagaatggctataagaactctaggaacaaattgga03/05/1203/05/12137Genomicunknown
ss13288538861000GENOMES|PHASE3_V1_41164970fwd/C/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa08/16/1408/16/14142Genomicunknown
ss1689107771EVA_EXAC|EVA_EXAC_4197186fwd/C/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa03/04/1503/04/15144Genomicunknown
ss1689107772EVA_EXAC|EVA_EXAC_4197187fwd/G/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa03/04/1503/04/15144Genomicunknown
ss1689107773EVA_EXAC|EVA_EXAC_4197188fwd/A/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa03/04/1503/04/15144Genomicunknown
ss2301164516HUMAN_LONGEVITY|HLI-8-18400032-T-A,Cfwd/A/C/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa11/18/1611/18/16150Genomicunknown
ss2470822112TOPMED|8_18257542_T/Cfwd/C/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa11/20/1611/20/16150Genomicunknown
ss2711131660ILLUMINA|Consortium-OncoArray_15047405_A_rs72466456-131_B_F_1990300155fwd/C/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa03/22/1703/22/17151Genomicunknown
ss2737016560GNOMAD|exomes_rs72466456fwd/A/C/G/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa05/17/1705/17/17151Genomicunknown
ss2748005893GNOMAD|coding_rs72466456fwd/A/C/G/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa05/17/1705/17/17151Genomicunknown
ss2863932551GNOMAD|rs72466456fwd/A/C/G/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa05/19/1705/19/17151Genomicunknown
ss2985432603AFFY|Axiom_PsorMich_Affx-31859107fwd/C/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa05/24/1705/24/17151Genomicunknown
ss3555514655TOPMED|TOPMed_freeze_5?chr8:18,400,032-01fwd/C/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa10/06/1710/06/17151Genomicunknown
ss3555514656TOPMED|TOPMed_freeze_5?chr8:18,400,032-02fwd/G/Tgacattgaagcatattttgaaagaatggctataagaactctaggaacaaa10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs72466456|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 TAATACTTTC CTTACAGGGT TCTGAGACTA CTAAGAGAAC TTATGCATGT AAAAGGGATT
 CATGCAGTAG AAATACTAAC AAAAGAATTA CTATGACAGA TACTTATAAC CATTGTGTTT
 TTACGTATTT AAAATACGTT ATACCTATAA TTAGTCACAC GAGGAAATCA AATGCTAAAG
 TATGATATGT TTTTATGTTT TGTTTTTCTT GCTTAGGGGA TCATGGACAT TGAAGCATAT
 TTTGAAAGAA
 N
 TGGCTATAAG AACTCTAGGA ACAAATTGGA CTTGGAAACA TTAACTGACA TTCTTGAGCA
 CCAGATCCGG GCTGTTCCCT TTGAGAACCT TAACATGCAT TGTGGGCAAG CCATGGAGTT
 GGGCTTAGAG GCTATTTTTG ATCACATTGT AAGAAGAAAC CGGGGTGGGT GGTGTCTCCA
 GGTCAATCAA CTTCTGTACT GGGCTCTGAC CACAATCGGT TTTCAGACCA CAATGTTAGG
 AGGGTATTTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008
dbSNP Blast Analysis
3D structure mapping
NP_000006  

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

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPA
C
G
T
ss1328853886EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.00080000 0.99919999
AMR 694AF 0.00140000 0.99859995
SAS 978AF 1.00000000
ss1689107771ExAc_Aggregated_Populations121406AF 0.00004942 0.99995059
ss1689107772ExAc_Aggregated_Populations121404AF 0.000032950.99996704
ss1689107773ExAc_Aggregated_Populations121402AF 0.00001647 0.99998355
ss342253594ESP_Cohort_Populations 4546GF 0.000879890.999120121.00000000 0.00043995 0.99956006

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0100000

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

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