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Reference SNP (refSNP) Cluster Report: rs749667892                 
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:A/G (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0008/8 (ExAC)
A=0.0002/21 (TOPMED)
HGVS Names
  • CM000671.2:g.35657780G>A
  • NC_000009.11:g.35657777G>A
  • NC_000009.12:g.35657780G>A
  • NG_017041.1:g.5239C>T
  • NG_033120.1:g.4491G>A
  • NM_001195200.1:c.-600G>A
  • NM_001195201.1:c.-600G>A
  • NM_001195217.1:c.-600G>A
  • NM_174923.2:c.-600G>A
  • NR_003051.3:n.239C>T
  • XR_242498.1:n.-502G>A
  • XR_929218.2:n.-502G>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 ss1689475960 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs749667892 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
ss1689475960EVA_EXAC|EXAC_0.3.9:g35657777g>afwd/A/Gccgcgctgagaatgagccccgtgtgttggtgcgcggacacgcactgcctg03/04/1503/04/15144Genomicunknown
ss2311071138HUMAN_LONGEVITY|HLI-9-35657780-G-Afwd/A/Gccgcgctgagaatgagccccgtgtgttggtgcgcggacacgcactgcctg11/18/1611/18/16150Genomicunknown
ss2481209576TOPMED|9_35657777_G/Afwd/A/Gccgcgctgagaatgagccccgtgtgttggtgcgcggacacgcactgcctg11/20/1611/20/16150Genomicunknown
ss2737589963GNOMAD|exomes_rs749667892fwd/A/Gccgcgctgagaatgagccccgtgtgttggtgcgcggacacgcactgcctg05/17/1705/17/17151Genomicunknown
ss2748180131GNOMAD|coding_rs749667892fwd/A/Gccgcgctgagaatgagccccgtgtgttggtgcgcggacacgcactgcctg05/17/1705/17/17151Genomicunknown
ss2877732706GNOMAD|rs749667892fwd/A/Gccgcgctgagaatgagccccgtgtgttggtgcgcggacacgcactgcctg05/19/1705/19/17151Genomicunknown
ss3022925714ILLUMINA|MEGA_Consortium_v2_15070954_A2_Variant66534-0_T_F_2308495496fwd/A/Gccgcgctgagaatgagccccgtgtgttggtgcgcggacacgcactgcctg06/28/1706/28/17151Genomicunknown
ss3587357205TOPMED|TOPMed_freeze_5?chr9:35,657,780fwd/A/Gccgcgctgagaatgagccccgtgtgttggtgcgcggacacgcactgcctg10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs749667892|allelePos=26|totalLen=51|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CCGCGCTGAG AATGAGCCCC GTGTG
 R
 TTGGTGCGCG GACACGCACT GCCTG

  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.
SourceHWPA
G
ss1689475960ExAc_Aggregated_Populations 15480AF 0.000581400.99941862

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.002+/-0.0290000

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

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