NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs183605470                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:135/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0160/80 (1000 Genomes)
T=0.0075/944 (TOPMED)
HGVS Names
  • CM000663.2:g.84139A>T
  • NC_000001.10:g.84139A>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 ss453832821 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs183605470 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
ss4538328211000GENOMES|20101123_snps_51_chr1_84139fwd/A/Ttccttcagatacaaactaaaaaacactagaagtaactcaaaaccacataaagaaataact07/20/1107/20/11135Genomicunknown
ss12893360231000GENOMES|PHASE3_V1_615fwd/A/Tcagatacaaactaaaaaacactagaagtaactcaaaaccacataaagaaa08/16/1408/16/14142Genomicunknown
ss1584129270EVA_DECODE|EVA_DECODE_1_74002_8_rs183605470fwd/A/Tcagatacaaactaaaaaacactagaagtaactcaaaaccacataaagaaa03/02/1503/02/15144Genomicunknown
ss1958229896ILLUMINA|JHU_1.84138-1_B_F_2245130340fwd/A/Tcagatacaaactaaaaaacactagaagtaactcaaaaccacataaagaaa11/13/1511/13/15147Genomicunknown
ss2750606512GNOMAD|rs183605470fwd/A/Tcagatacaaactaaaaaacactagaagtaactcaaaaccacataaagaaa05/17/1705/17/17151Genomicunknown
ss3021042936ILLUMINA|MEGA_Consortium_v2_15070954_A2_JHU_1.84138-1_B_F_2245130340fwd/A/Tcagatacaaactaaaaaacactagaagtaactcaaaaccacataaagaaa06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs183605470|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=151
 AAGAAGGAAA GAAAGAAAGA AAGAAAAAAG AAAGAAAAAG AAAGAAAGAA AGAAAGAAAG
 AAAGAAAGAA AGAAAGAAAG AAAGAAAGAA AGAAAGAAAG AAAAGCAAGC AAGCTTTAAA
 AGTTCATGTT TGGTAGGCTG TACTTCAAGA TACACTTTTA AAAAAAAGAC TCCTTCAGAT
 ACAAACTAAA AAACACTAGA
 W
 AGTAACTCAA AACCACATAA AGAAATAACT CCAGTAAAGA TAACTACATA GGTAAATATA
 AAAGCAATTA TCACATTTTT TGTAAGTCTT TTTTAATATT CTATATGTTT TAAAACAAAT
 GTGTAAAATA ATGACTATAA ATCTATGTTA ATGAAGCATG ATGTATACAG ATGTGGTTTG
 TGAAATTACC AACATAAAGA

  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 AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
T
ss1289336023EAS 1008AF 0.992100000.00790000
EUR 1006AF 1.00000000
AFR 1322AF 0.999199990.00080000
AMR 694AF 0.901999950.09800000
SAS 978AF 0.996900020.00310000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.031+/-0.1210000

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