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Reference SNP (refSNP) Cluster Report: rs267608652                 ** 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:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:unknown
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With untested allele [ClinVar]
MAF/MinorAlleleCount:T=0.00001/1 (ExAC)
T=0.0001/13 (TOPMED)
HGVS Names
  • CM000685.2:g.18609618C>T
  • NC_000023.10:g.18627738C>T
  • NC_000023.11:g.18609618C>T
  • NG_008475.1:g.189014C>T
  • NM_001037343.1:c.2152+48C>T
  • NM_001323289.1:c.2152+48C>T
  • NM_003159.2:c.2152+48C>T
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 ss538296836 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs267608652 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
ss538296836CHWRETT|CDKL5: c.2152+48C>Tfwd/BC/Tattcaacaggttcccctctcctccctctctactttatgtgcacactgctttcaccgactc08/08/1208/08/12137Genomicunknown
ss1640415973EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18627738_45113862fwd/C/Tacaggttcccctctcctccctctctactttatgtgcacactgctttcacc03/04/1503/04/15144Genomicunknown
ss1683410006EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18627738_45113862fwd/C/Tacaggttcccctctcctccctctctactttatgtgcacactgctttcacc03/04/1503/04/15144Genomicunknown
ss1694468696EVA_EXAC|EXAC_0.3.X:g18627738c>tfwd/C/Tacaggttcccctctcctccctctctactttatgtgcacactgctttcacc03/04/1503/04/15144Genomicunknown
ss2486496301TOPMED|X_18627738_C/Tfwd/C/Tacaggttcccctctcctccctctctactttatgtgcacactgctttcacc11/20/1611/20/16150Genomicunknown
ss2745323668GNOMAD|exomes_rs267608652fwd/C/Tacaggttcccctctcctccctctctactttatgtgcacactgctttcacc05/17/1705/17/17151Genomicunknown
ss2746082294GNOMAD|coding_rs267608652fwd/C/Tacaggttcccctctcctccctctctactttatgtgcacactgctttcacc05/17/1705/17/17151Genomicunknown
ss2976935005GNOMAD|rs267608652fwd/C/Tacaggttcccctctcctccctctctactttatgtgcacactgctttcacc05/23/1705/23/17151Genomicunknown
ss3606386713TOPMED|TOPMed_freeze_5?chrX:18,609,618fwd/C/Tacaggttcccctctcctccctctctactttatgtgcacactgctttcacc10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs267608652|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GAGGTAAGCC CACCCCCGGC ATTCAACAGG TTCCCCTCTC CTCCCTCTCT
 Y
 ACTTTATGTG CACACTGCTT TCACCGACTC AGGCCAGCGG CCTTCTCACC

  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
ss1694468696ExAc_Aggregated_Populations121302AF 0.999991770.00000824

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0040000

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

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