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dbSNP
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Reference SNP (refSNP) Cluster Report: rs77769511                 ** With Likely benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely benign allele [ClinVar]
MAF/MinorAlleleCount:A=0.00002/3 (ExAC)
A=0.00008/1 (GO-ESP)
A=0.00006/7 (TOPMED)
HGVS Names
  • CM000670.2:g.27463666G>A
  • NC_000008.10:g.27321183G>A
  • NC_000008.11:g.27463666G>A
  • NG_015827.1:g.20631C>T
  • NM_000742.3:c.777C>T
  • NM_001282455.1:c.732C>T
  • NM_001347705.1:c.300C>T
  • NM_001347706.1:c.300C>T
  • NM_001347707.1:c.183C>T
  • NM_001347708.1:c.183C>T
  • NP_000733.2:p.Phe259=
  • NP_001269384.1:p.Phe244=
  • NP_001334634.1:p.Phe100=
  • NP_001334635.1:p.Phe100=
  • NP_001334636.1:p.Phe61=
  • NP_001334637.1:p.Phe61=
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 ss161151684 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs77769511 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
ss161151684PERLEGEN|IVD00719928fwd/TA/Gggtgtagaagagcggcagccgccggatgacaaggcgtaggtgacgtcggggtagatctcg09/11/0909/11/09131Genomicunknown
ss712834832NHLBI-ESP|ESP6500SI-chr8-27321183fwd/TA/Gggtgtagaagagcggcagccgccggatgacaaggcgtaggtgacgtcggggtagatctcg02/20/1302/20/13138Genomicunknown
ss1689143426EVA_EXAC|EVA_EXAC_4235311fwd/A/Gagaagagcggcagccgccggatgacaaggcgtaggtgacgtcggggtaga03/04/1503/04/15144Genomicunknown
ss2301783586HUMAN_LONGEVITY|HLI-8-27463666-G-Afwd/A/Gagaagagcggcagccgccggatgacaaggcgtaggtgacgtcggggtaga11/18/1611/18/16150Genomicunknown
ss2737071311GNOMAD|exomes_rs77769511fwd/A/Gagaagagcggcagccgccggatgacaaggcgtaggtgacgtcggggtaga05/17/1705/17/17151Genomicunknown
ss2748023060GNOMAD|coding_rs77769511fwd/A/Gagaagagcggcagccgccggatgacaaggcgtaggtgacgtcggggtaga05/17/1705/17/17151Genomicunknown
ss2864754035GNOMAD|rs77769511fwd/A/Gagaagagcggcagccgccggatgacaaggcgtaggtgacgtcggggtaga05/19/1705/19/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs77769511|allelePos=101|totalLen=201|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AGTCGGAGGG CAGGTAGAAG ACCAGCACAG TGAGGCAGGA GATGAGCAGG CAGGGGATGA
 TGAGGTTGAT GGTGTAGAAG AGCGGCAGCC GCCGGATGAC
 R
 AAGGCGTAGG TGACGTCGGG GTAGATCTCG GCGCAGCAGT CGTACTTCTT GCTGTTGTAG
 GTGCC
 CGTGGCATTG ACGATGGCCC ACTCGCCGCT CTCCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008.9
dbSNP Blast Analysis
3D structure mapping
NP_000733  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss161151684PGI_05_PANEL 860GF 0.002325580.997674411.000000000.001162790.99883723
ss1689143426ExAc_Aggregated_Populations121412AF 0.000024710.99997526

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0050000

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