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: rs778417218                 ** With Uncertain significance allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:144/151
Map to Genome Build:108/Weight 1
Validation Status:byFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:T=0.00007/9 (ExAC)
T=0.0001/13 (TOPMED)
HGVS Names
  • CM000679.2:g.50186312C>T
  • NC_000017.10:g.48263673C>T
  • NC_000017.11:g.50186312C>T
  • NG_007400.1:g.20328G>A
  • NM_000088.3:c.4005+5G>A
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 ss1635745311 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs778417218 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
ss1635745311EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_17_48263673_39952771fwd/C/Taacactggctctgaggtccagctcagcacctggaatccatcggtcatgct03/04/1503/04/15144Genomicunknown
ss1678739344EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_17_48263673_39952771fwd/C/Taacactggctctgaggtccagctcagcacctggaatccatcggtcatgct03/04/1503/04/15144Genomicunknown
ss1692853076EVA_EXAC|EXAC_0.3.17:g48263673c>tfwd/C/Taacactggctctgaggtccagctcagcacctggaatccatcggtcatgct03/04/1503/04/15144Genomicunknown
ss2217219365HUMAN_LONGEVITY|HLI-17-50186312-C-Tfwd/C/Taacactggctctgaggtccagctcagcacctggaatccatcggtcatgct11/18/1611/18/16150Genomicunknown
ss2382374852TOPMED|17_48263673_C/Tfwd/C/Taacactggctctgaggtccagctcagcacctggaatccatcggtcatgct11/19/1611/19/16150Genomicunknown
ss2742835783GNOMAD|exomes_rs778417218fwd/C/Taacactggctctgaggtccagctcagcacctggaatccatcggtcatgct05/17/1705/17/17151Genomicunknown
ss2749810145GNOMAD|coding_rs778417218fwd/C/Taacactggctctgaggtccagctcagcacctggaatccatcggtcatgct05/17/1705/17/17151Genomicunknown
ss2950466907GNOMAD|rs778417218fwd/C/Taacactggctctgaggtccagctcagcacctggaatccatcggtcatgct05/23/1705/23/17151Genomicunknown
ss3264201822TOPMED|TOPMed_freeze_5?chr17:50,186,312fwd/C/Taacactggctctgaggtccagctcagcacctggaatccatcggtcatgct10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs778417218|allelePos=26|totalLen=51|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AACACTGGCT CTGAGGTCCA GCTCA
 Y
 GCACCTGGAA TCCATCGGTC ATGCT

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

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1692853076ExAc_Aggregated_Populations121412AF 0.999925850.00007413

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0090000

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

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