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Reference SNP (refSNP) Cluster Report: rs375619475                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:138/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0363/182 (1000 Genomes)
T=0.0407/5110 (TOPMED)
HGVS Names
  • CM000663.2:g.790009C>A
  • CM000663.2:g.790009C>T
  • NC_000001.10:g.725389C>T
  • NC_000001.11:g.790009C>A
  • NC_000001.11:g.790009C>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 ss647515902 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs375619475 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
ss647515902SSMP|1_725389fwd/BC/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa12/14/1202/09/15138Genomicunknown
ss974769100EVA-GONL|GoNL_r5:GRCh37:chr1:g725389c>tfwd/BC/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa04/23/1404/23/14142Genomicunknown
ss12893381461000GENOMES|PHASE3_V1_2835fwd/C/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa08/16/1408/16/14142Genomicunknown
ss1599378245EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_725389_109fwd/C/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa03/04/1503/04/15144Genomicunknown
ss1642372278EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_725389_109fwd/C/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa03/04/1503/04/15144Genomicunknown
ss1751134732PADH-LAB_SPU|batch1_SNV137fwd/BC/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa03/25/1505/22/15146Genomicunknown
ss1917959824WEILL_CORNELL_DGM|SNV:chr1:725389fwd/BC/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa10/16/1510/16/15147Genomicunknown
ss2019498281JJLAB|SNP836fwd/BC/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa08/29/1608/30/16149Genomicunknown
ss2147483996USC_VALOUEV|NC_000001.10:g.725389C>Tfwd/C/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa11/17/1611/17/16150Genomicunknown
ss2697374180GRF|rs375619475fwd/C/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa02/13/1702/13/17151Genomicunknown
ss2750633864GNOMAD|rs375619475fwd/C/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa05/17/1705/17/17151Genomicunknown
ss2986147906SWEGEN|NC_000001.10:g.725389C>Tfwd/C/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa05/30/1705/30/17151Genomicunknown
ss3343272254CSHL|LID=SNVhg19:chr1:725389fwd/C/Tttggaatggactcgaatggcatggaaggagtggacccgaatgaaatggaa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs375619475|allelePos=26|totalLen=51|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 TTGGAATGGA CTCGAATGGC ATGGA
 H
 AGGAGTGGAC CCGAATGAAA TGGAA

  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.
SourceHWPC
T
ss1289338146EAS 1008AF 0.962300000.03770000
EUR 1006AF 0.955299970.04470000
AFR 1322AF 0.972800020.02720000
AMR 694AF 0.971200050.02880000
SAS 978AF 0.956000030.04400000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.070+/-0.1740000

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