NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Attention: This page will be retired!
This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained.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.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs28940575                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/151
Map to Genome Build:108/Weight 1
Validation Status:byCluster
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/T (REV)
Allele Origin:A:germline
T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:T=0.000008/1 (TOPMED)
HGVS Names
  • CM000668.2:g.18122531A>T
  • NC_000006.11:g.18122762A>T
  • NC_000006.12:g.18122531A>T
  • NG_016750.1:g.5090T>A
  • NM_198586.2:c.76T>A
  • NP_940988.2:p.Cys26Ser
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 ss290219688 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28940575 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
ss275516296OMICIA|2010_April_001_102_NHLRC1_608072_0001rev/A/Tggtggccaaacttctcaaagcacaccttgcctcgagcaggctgatctccgcctcgcgcat11/30/1008/29/12137Genomicunknown
ss290219688OMIM-CURATED-RECORDS|15466fwd/A/Tatgcgcgaggcggagatcagcctgctcgaggcaaggtgtgctttgagaagtttggccacc01/12/1101/12/11133Genomicunknown
ss2735561369GNOMAD|exomes_rs28940575rev/A/Tccaaacttctcaaagcacaccttgcctcgagcaggctgatctccgcctcg05/17/1705/17/17151Genomicunknown
ss3491426717TOPMED|TOPMed_freeze_5?chr6:18,122,531rev/A/Tccaaacttctcaaagcacaccttgcctcgagcaggctgatctccgcctcg10/05/1710/05/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28940575|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=151
 GCCCTCAGGA AACAGTGCCG CGCGTGCCCA CCAAGGGGCA GCAGATCGCA GTGCAGAGGC
 CCGCGGCGCT CGACGTCAGG GCGCACGTCC CACCCCGTGA CCATGACTGT GACCGTGACC
 GAGAGCGTCG CTGGGGCACG GCCAGGCGGC GCGGCGGGAG TGCACAGGAC GCGCCATGGC
 GGCCGAAGCC TCGGAGAGCG GGCCAGCGCT GCATGAGCTC ATGCGCGAGG CGGAGATCAG
 CCTGCTCGAG
 W
 GCAAGGTGTG CTTTGAGAAG TTTGGCCACC GGCAGCAGCG GCGCCCGCGC AACCTGTCCT
 GCGGCCACGT GGTCTGCCTG GCCTGCGTGG CCGCCCTGGC GCACCCGCGC ACTCTGGCCC
 TCGAGTGCCC ATTCTGCAGG CGAGCTTGCC GGGGCTGCGA CACCAGCGAC TGCCTGCCGG
 TGCTGCACCT CATAGAGCTC CTGGGCTCAG CGCTTCGCCA GTCCCCGGCC GCCCATCGCG
 CCGCCCCCAG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
608072.0001

  Population Diversity (Alleles in RefSNP orientation) Note: rs28940575 allele is reverse to the genome back to top
There is no frequency data.

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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement