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Reference SNP (refSNP) Cluster Report: rs184407021                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:135/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:G=0.0013/5 (1000 Genomes)
G=0.0033/410 (TOPMED)
HGVS Names
  • CM000685.2:g.18425432C>G
  • NC_000023.10:g.18443552C>G
  • NC_000023.11:g.18425432C>G
  • NG_008475.1:g.4828C>G
  • NM_003159.2:c.-426C>G
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 ss466349621 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs184407021 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
ss4663496211000GENOMES|20101123_snps_12516851_chrX_18443552fwd/C/Gctcgagcacgagcggcgcgagcccgaacccaggacaagcgcttcctcctcattggctcct07/20/1107/20/11135Genomicunknown
ss15536834021000GENOMES|PHASE3_chrX_457226byFreqfwd/C/Ggcacgagcggcgcgagcccgaacccaggacaagcgcttcctcctcattgg08/16/1408/07/15144Genomicunknown
ss1640414276EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18443552_45111980fwd/C/Ggcacgagcggcgcgagcccgaacccaggacaagcgcttcctcctcattgg03/04/1503/04/15144Genomicunknown
ss1683408309EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18443552_45111980fwd/C/Ggcacgagcggcgcgagcccgaacccaggacaagcgcttcctcctcattgg03/04/1503/04/15144Genomicunknown
ss1939182018WEILL_CORNELL_DGM|SNV:chrX:18443552fwd/C/Ggcacgagcggcgcgagcccgaacccaggacaagcgcttcctcctcattgg10/16/1510/19/15147Genomicunknown
ss2315997343HUMAN_LONGEVITY|HLI-X-18425432-C-Gfwd/C/Ggcacgagcggcgcgagcccgaacccaggacaagcgcttcctcctcattgg11/18/1611/18/16150Genomicunknown
ss2976925308GNOMAD|rs184407021fwd/C/Ggcacgagcggcgcgagcccgaacccaggacaagcgcttcctcctcattgg05/23/1705/23/17151Genomicunknown
ss3019693675SWEGEN|NC_000023.10:g.18443552C>Gfwd/C/Ggcacgagcggcgcgagcccgaacccaggacaagcgcttcctcctcattgg05/30/1705/30/17151Genomicunknown
ss3606363331TOPMED|TOPMed_freeze_5?chrX:18,425,432fwd/C/Ggcacgagcggcgcgagcccgaacccaggacaagcgcttcctcctcattgg10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs184407021|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 TCTACCCCCC GGCGTCGACT CCAGGCTCGG GCCCCGCCCC TCTCAGCCTC TCCAGCCCAG
 GTTGCTAGGG CTTGGCGGGG CAACCAAACC TGGCGTGCCA GGAGGCGCGG CGCGCGCGTG
 AGCGCGCAGG CGAGCTTGTA TAAGGAACCA GCGTTCTTCG GCTTCGGAGA CTCGAGCACG
 AGCGGCGCGA GCCCGAACCC
 S
 AGGACAAGCG CTTCCTCCTC ATTGGCTCCT ACCAGAAGGG GGCGGGGTAA AGGCGGGATC
 GGGCAAAACC TGAGGTGCTT TCCCATTGGT CCGAACGGGC CGGCTGGGGC GGGGCAGTTA
 GCAAAATAGG CTGCGCGTTC GCTTCTGCTA GAGGGCGGGG CCGGAGGTTT CGATTAGTTG
 TCTCTGCCGC TGGGGAAGGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000023
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.
SourceHWPC
G
ss1553683402EAS 1008AF 1.00000000
EUR 1006AF 0.995999990.00400000
AFR 1322AF 0.999199990.00080000
AMR 694AF 1.00000000
SAS 978AF 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.003+/-0.0360000

  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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