NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs28454925                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0280/140 (1000 Genomes)
G=0.0352/4421 (TOPMED)
HGVS Names
  • CM000663.2:g.791414C>G
  • NC_000001.10:g.726794C>G
  • NC_000001.11:g.791414C>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 ss35191878 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28454925 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
ss35191878SSAHASNP|TA-079.chr1_766657fwd/C/Gggattcgaatggaaagacatggaatggactgattggaatgggttgggatggaatgatcta03/11/05125Genomicunknown
ss3283572111000GENOMES|20100804_snps_747_chr1_726794fwd/C/Gggattcgaatggaaagacatggaatggactgattggaatgggttgggatggaatgatcta03/22/1103/22/11134Genomicunknown
ss481568668ILLUMINA|HumanOmni1-Quad_v1-0_C_rs28454925-131_B_R_1863321462fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg01/30/1208/28/15146Genomicunknown
ss647515921SSMP|1_726794fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg12/14/1202/09/15138Genomicunknown
ss832928552ILLUMINA|Human660W-Quad_v1_C_rs28454925-131_B_R_1863321462fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg09/18/1307/02/15142Genomicunknown
ss833519382ILLUMINA|Human660W-Quad_v1_H_rs28454925-131_B_R_1863321462fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg09/18/1307/02/15142Genomicunknown
ss974769107EVA-GONL|EVA-GONL_rs28454925fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg04/23/1404/23/14142Genomicunknown
ss12893381911000GENOMES|PHASE3_V1_2882fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg08/16/1408/16/14142Genomicunknown
ss1573851072EVA_GENOME_DK|EVA_GENOME_DK_snv_rs28454925fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg02/19/1502/19/15144Genomicunknown
ss1599378247EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_726794_113fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg03/04/1503/04/15144Genomicunknown
ss1642372280EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_726794_113fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg03/04/1503/04/15144Genomicunknown
ss1917959849WEILL_CORNELL_DGM|SNV:chr1:726794fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg10/16/1510/16/15147Genomicunknown
ss2147484170USC_VALOUEV|NC_000001.10:g.726794C>Gfwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg11/17/1611/17/16150Genomicunknown
ss2750634233GNOMAD|rs28454925fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg05/17/1705/17/17151Genomicunknown
ss2986148067SWEGEN|NC_000001.10:g.726794C>Gfwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg05/30/1705/30/17151Genomicunknown
ss3343272280CSHL|rs28454925fwd/C/Gcgaatggaaagacatggaatggactgattggaatgggttgggatggaatg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28454925|allelePos=501|totalLen=933|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 TAACAGAATG GAATGAACCC GAATGGAATG GAATGGAATG GAATGGAATG GAATGGAATG
 GAATGGAATG GAATGAAAGG TGCTCGAATA GAATGGAATG GAATGGAATA GAATGGACTC
 AAATGGAATG GAATATAATG GAATGGGAAT GGGAATGGGA ATGGAAGGGA TGGGATGGGA
 TGGGATGTAA TGGAATGGAA TGCAATGGAA TGGACACCTA TGGAATGCAG TTGAATTGAA
 TGGACCCGAA AGCAATGGAA TGGAATGCAA TGTACTCGAA TGGAATGGAC TCGAATGGAA
 TGGAATGAAC TCGAATGGAA TGGAATGGAA TGGACTCGAA TGGAATGGAA TGGAATGCAC
 CCAAATGGAA TTAAATGTAA TGGAATGGAC TTGAATGAAA TGGCAAGAAT GGACTCGAAT
 GGAATGGAAT GGAATGGAAT CGAATGGAAT CGAATGGAAT GACATGGAAT GGATTCGAAT
 GGAAAGACAT GGAATGGACT
 S
 GATTGGAATG GGTTGGGATG GAATGATCTA GAATGTAATG GAATGGAATG GACTCAAATG
 GAATAGAATG GAATAGAATG GACTCGAATA TAATGGAATG AAATTGGCTC GAATGGAATG
 GAATGGACTT GAATGGAATG GAATGGAATC GAATGGAATG GAATGGAATG GAATGGAATG
 GAATGGAATG GAATGGAATG GAATGGACTC GAATGGAATG GAAAGGAATG GACTCAAATG
 GAATAGAATT TAATGGAATT ACAAACCACA GTGATATAAC ACACATGCAT GAAGATTTCT
 AACATGCCAT CCTAAATTAA GTCACTGTAT CAGTCAGAGT CCAAGTATAG GAAACAGTCA
 CTACCCATGC AAACCTGAAG AGACCTTCAT ACAAGGGAGC TGAGGCAGCC GCAGCCTGCA
 GCTCTGTCTT CT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
HWPC
G
ss1289338191EAS 1008AF 1.00000000
EUR 1006AF 0.956299960.04370000
AFR 1322AF 0.973500010.02650000
AMR 694AF 0.971200050.02880000
SAS 978AF 0.958099960.04190000
ss35191878ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.054+/-0.1560000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN