NCBI
dbSNP
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Reference SNP (refSNP) Cluster Report: rs369606208                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:138/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.2553/1506 (ExAC)
G=0.0322/4045 (TOPMED)
HGVS Names
  • CM000663.2:g.17365C>G
  • NC_000001.10:g.17365C>G
  • NC_000001.11:g.17365C>G
  • NR_024540.1:n.591G>C
  • NR_106918.1:n.72G>C
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 ss15445486 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs369606208 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
ss15445486SC_SNP|NT_077402.1_7228fwd/TC/Gagccagggggtccaggaagacatacttctttacctacagaggcgacatgggggtcaggca11/14/0311/22/03147Genomicunknown
ss647514755SSMP|1_17365fwd/C/Ggggggtccaggaagacatacttctttacctacagaggcgacatgggggtc12/14/1202/09/15138Genomicunknown
ss1685216850EVA_EXAC|EXAC_0.3.1:g17365c>gfwd/C/Ggggggtccaggaagacatacttctttacctacagaggcgacatgggggtc03/04/1503/04/15144Genomicunknown
ss2697372909GRF|rs369606208fwd/C/Ggggggtccaggaagacatacttctttacctacagaggcgacatgggggtc02/13/1702/13/17151Genomicunknown
ss2730985434GNOMAD|exomes_rs369606208fwd/C/Ggggggtccaggaagacatacttctttacctacagaggcgacatgggggtc05/17/1705/17/17151Genomicunknown
ss2746168686GNOMAD|coding_rs369606208fwd/C/Ggggggtccaggaagacatacttctttacctacagaggcgacatgggggtc05/17/1705/17/17151Genomicunknown
ss2750601972GNOMAD|rs369606208fwd/C/Ggggggtccaggaagacatacttctttacctacagaggcgacatgggggtc05/17/1705/17/17151Genomicunknown
ss2986141476SWEGEN|NC_000001.10:g.17365C>Gfwd/C/Ggggggtccaggaagacatacttctttacctacagaggcgacatgggggtc05/30/1705/30/17151Genomicunknown
ss3343271474CSHL|LID=SNVhg19:chr1:17365fwd/C/Ggggggtccaggaagacatacttctttacctacagaggcgacatgggggtc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs369606208|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 CTGGAGAGGA GCTCTGGCAA GGCCCTGGGC CACTGCACCT GTCTCCACCT CTGTCCCACC
 CCTCCCACCT GCTGTTCCAG CTGCTCTCTC TTGCTGATGG ACAAGGGGGC ATCAAACAGC
 TTCTCCTCTG TCTCTGCCCC CAGCATCACA TGGGTCTTTG TTACAGCACC AGCCAGGGGG
 TCCAGGAAGA CATACTTCTT
 S
 TACCTACAGA GGCGACATGG GGGTCAGGCA AGCTGACACC CGCTGTCCTG AGCCCATGTT
 CCTCTCCCAC ATCATCAGGG GCACAGCGTG CACTGTGGGG TCCCAGGCCT CCCGAGCCGA
 GCCACCCGTC ACCCCCTGGC TCCTGGCCTA TGTGCTGTAC CTGTGTCTGA TGCCCTGGGT
 CCCCACTAAG CCAGGCCGGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077402
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
G
ss1685216850ExAc_Aggregated_Populations 12626AF 0.864010750.13598923

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.380+/-0.2130000

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