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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained.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: rs372841554                 
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:A/G (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0765/398 (ExAC)
A=0.0178/2233 (TOPMED)
HGVS Names
  • CM000663.2:g.17407G>A
  • NC_000001.10:g.17407G>A
  • NC_000001.11:g.17407G>A
  • NR_024540.1:n.588-39C>T
  • NR_106918.1:n.30C>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 ss647514756 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs372841554 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
ss647514756SSMP|1_17407fwd/TA/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc12/14/1202/09/15138Genomicunknown
ss1685216859EVA_EXAC|EXAC_0.3.1:g17407g>afwd/A/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc03/04/1503/04/15144Genomicunknown
ss1917958135WEILL_CORNELL_DGM|SNV:chr1:17407fwd/TA/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc10/16/1510/16/15147Genomicunknown
ss2147483691USC_VALOUEV|NC_000001.10:g.17407G>Afwd/A/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc11/17/1611/17/16150Genomicunknown
ss2697372910GRF|rs372841554fwd/A/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc02/13/1702/13/17151Genomicunknown
ss2730985453GNOMAD|exomes_rs372841554fwd/A/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc05/17/1705/17/17151Genomicunknown
ss2746168699GNOMAD|coding_rs372841554fwd/A/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc05/17/1705/17/17151Genomicunknown
ss2750601985GNOMAD|rs372841554fwd/A/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc05/17/1705/17/17151Genomicunknown
ss2986141483SWEGEN|NC_000001.10:g.17407G>Afwd/A/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc05/30/1705/30/17151Genomicunknown
ss3343271476CSHL|LID=SNVhg19:chr1:17407fwd/A/Gatgggggtcaggcaagctgacacccctgtcctgagcccatgttcctctcc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs372841554|allelePos=26|totalLen=51|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 ATGGGGGTCA GGCAAGCTGA CACCC
 R
 CTGTCCTGAG CCCATGTTCC TCTCC

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

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1685216859ExAc_Aggregated_Populations 13052AF 0.033558070.96644193

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.141+/-0.2250000

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