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Reference SNP (refSNP) Cluster Report: rs267608448                 ** With untested allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:unknown
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With untested allele [ClinVar]
MAF/MinorAlleleCount:A=0.0007/57 (ExAC)
A=0.0003/1 (1000 Genomes)
A=0.0009/10 (GO-ESP)
A=0.0006/79 (TOPMED)
HGVS Names
  • CM000685.2:g.18579805G>A
  • NC_000023.10:g.18597925G>A
  • NC_000023.11:g.18579805G>A
  • NG_008475.1:g.159201G>A
  • NM_001037343.1:c.283-43G>A
  • NM_001323289.1:c.283-43G>A
  • NM_003159.2:c.283-43G>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 ss713644547 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs267608448 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
ss538296402CHWRETT|CDKL5: c.283-43G>Afwd/TA/Gctttgtaaaattgttaatacataatttacggcctacctaatttgggaaataatgactcta08/08/1208/08/12137Genomicunknown
ss713644547NHLBI-ESP|ESP6500SI-chrX-18597925fwd/TA/Gctttgtaaaattgttaatacataatttacggcctacctaatttgggaaataatgactcta02/20/1302/20/13138Genomicunknown
ss15536864401000GENOMES|PHASE3_chrX_460264fwd/TA/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga08/16/1401/30/15144Genomicunknown
ss1583339740EVA_GENOME_DK|EVA_GENOME_DK_snv_rs267608448fwd/TA/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga02/19/1502/20/15144Genomicunknown
ss1640415709EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18597925_45113566fwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga03/04/1503/04/15144Genomicunknown
ss1683409742EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18597925_45113566fwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga03/04/1503/04/15144Genomicunknown
ss1694468448EVA_EXAC|EXAC_0.3.X:g18597925g>afwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga03/04/1503/04/15144Genomicunknown
ss2316003522HUMAN_LONGEVITY|HLI-X-18579805-G-Afwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga11/18/1611/18/16150Genomicunknown
ss2486495414TOPMED|X_18597925_G/Afwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga11/20/1611/20/16150Genomicunknown
ss2745323288GNOMAD|exomes_rs267608448fwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga05/17/1705/17/17151Genomicunknown
ss2746082207GNOMAD|coding_rs267608448fwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga05/17/1705/17/17151Genomicunknown
ss2976933638GNOMAD|rs267608448fwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga05/23/1705/23/17151Genomicunknown
ss3019694793SWEGEN|NC_000023.10:g.18597925G>Afwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga05/30/1705/30/17151Genomicunknown
ss3606383375TOPMED|TOPMed_freeze_5?chrX:18,579,805fwd/A/Gtaaaattgttaatacataatttacggcctacctaatttgggaaataatga10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs267608448|allelePos=101|totalLen=201|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GAGAAAGTTG TAGATAGAAA GCAAAACAAT TAAAAAAAAA AGCTCTGTAT TGGATGAATT
 ATTCTAGATG CTTTGTAAAA TTGTTAATAC ATAATTTACG
 R
 GCCTACCTAA TTTGGGAAAT AATGACTCTA TTTAATTTTT AGAATATGCT CGAATTGCTG
 GAAGAAATGC CAAATGGAGT TCCACCTGAG AAAGTAAAAA

  NCBI Resource Links back to top
Submitter-Referenced
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.
SourceHWPA
G
ss1553686440EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 0.001000000.99899995
ss1694468448ExAc_Aggregated_Populations121392AF 0.000659020.99934095

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0260000

  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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