NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs55793712                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:129/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.000010/1 (ExAC)
C=0.000008/1 (TOPMED)
HGVS Names
  • CM000670.2:g.18222931A>C
  • CM000670.2:g.18222931A>G
  • CM000670.2:g.18222931A>T
  • NC_000008.10:g.18080440A>C
  • NC_000008.10:g.18080440A>G
  • NC_000008.10:g.18080440A>T
  • NC_000008.11:g.18222931A>C
  • NC_000008.11:g.18222931A>G
  • NC_000008.11:g.18222931A>T
  • NG_012245.2:g.57470A>C
  • NG_012245.2:g.57470A>G
  • NG_012245.2:g.57470A>T
  • NM_000662.7:c.*11A>C
  • NM_000662.7:c.*11A>G
  • NM_000662.7:c.*11A>T
  • NM_001160170.3:c.*11A>C
  • NM_001160170.3:c.*11A>G
  • NM_001160170.3:c.*11A>T
  • NM_001160171.3:c.*11A>C
  • NM_001160171.3:c.*11A>G
  • NM_001160171.3:c.*11A>T
  • NM_001160172.3:c.*11A>C
  • NM_001160172.3:c.*11A>G
  • NM_001160172.3:c.*11A>T
  • NM_001160173.3:c.*11A>C
  • NM_001160173.3:c.*11A>G
  • NM_001160173.3:c.*11A>T
  • NM_001160174.2:c.*11A>C
  • NM_001160174.2:c.*11A>G
  • NM_001160174.2:c.*11A>T
  • NM_001160175.3:c.*11A>C
  • NM_001160175.3:c.*11A>G
  • NM_001160175.3:c.*11A>T
  • NM_001160176.3:c.*11A>C
  • NM_001160176.3:c.*11A>G
  • NM_001160176.3:c.*11A>T
  • NM_001160179.2:c.*11A>C
  • NM_001160179.2:c.*11A>G
  • NM_001160179.2:c.*11A>T
  • NM_001291962.1:c.*11A>C
  • NM_001291962.1:c.*11A>G
  • NM_001291962.1:c.*11A>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 ss198864636 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs55793712 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
ss75230094ILLUMINA|ILMN_Human_1M_SNP34fwd/TA/Gatagattttttactatttagaataaggagtaaacaatcttgtctatttgtcatccagctc08/28/0708/29/07129Genomicunknown
ss105434759AFFY_DM3_1|DMET3B14986fwd/TA/Gatagattttttactatttagaataaggagtaaacaatcttgtctatttgtcatccagctc09/03/0809/03/08130Genomicunknown
ss161079176ILLUMINA|HumanOmni1-Quad_v1-0_B_SNP34-0_B_R_1514195390rev/BC/Tgagctggatgacaaatagacaagattgtttactccttattctaaatagtaaaaaatctat08/04/0910/05/09131Genomicunknown
ss169136283ILLUMINA|Human1M-Duov3_B_SNP34-unknown_B_R_1514195390rev/BC/Tgagctggatgacaaatagacaagattgtttactccttattctaaatagtaaaaaatctat10/01/0910/01/09132Genomicunknown
ss198864636BUSHMAN|BUSHMAN-chr8-18124719fwd/A/Tatagattttttactatttagaataaggagtaaacaatcttgtctatttgtcatccagctc02/16/1003/06/10132Genomicunknown
ss483025684ILLUMINA|HumanOmni1-Quad_v1-0_C_SNP34-0_B_R_1853007433fwd/TA/Gttttttactatttagaataaggagtaaacaatcttgtctatttgtcatcc01/30/1208/28/15146Genomicunknown
ss537652774ILLUMINA|HumanOmni5-4v1_B_SNP34-0_B_R_1853007433fwd/TA/Gttttttactatttagaataaggagtaaacaatcttgtctatttgtcatcc06/22/1208/29/15146Genomicunknown
ss1689107751EVA_EXAC|EXAC_0.3.8:g18080440a>gfwd/A/Gttttttactatttagaataaggagtaaacaatcttgtctatttgtcatcc03/04/1503/04/15144Genomicunknown
ss1689107752EVA_EXAC|EXAC_0.3.8:g18080440a>cfwd/A/Cttttttactatttagaataaggagtaaacaatcttgtctatttgtcatcc03/04/1503/04/15144Genomicunknown
ss2301150697HUMAN_LONGEVITY|HLI-8-18222931-A-Cfwd/A/Cttttttactatttagaataaggagtaaacaatcttgtctatttgtcatcc11/18/1611/18/16150Genomicunknown
ss2634717611ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SNP34-0_B_R_1853007433fwd/A/Gttttttactatttagaataaggagtaaacaatcttgtctatttgtcatcc02/02/1702/02/17151Genomicunknown
ss2737016531GNOMAD|exomes_rs55793712fwd/A/C/Gttttttactatttagaataaggagtaaacaatcttgtctatttgtcatcc05/17/1705/17/17151Genomicunknown
ss3555475203TOPMED|TOPMed_freeze_5?chr8:18,222,931fwd/A/Cttttttactatttagaataaggagtaaacaatcttgtctatttgtcatcc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs55793712|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 AGATGGGGTT CACTGTTTGG TGGGCTTCAC CCTCACCCAT AGGAGATTCA ATTATAAGGA
 CAATACAGAT CTAATAGAGT TCAAGACTCT GAGTGAGGAA GAAATAGAAA AAGTGCTGAA
 AAATATATTT AATATTTCCT TGCAGAGAAA GCTTGTGCCC AAACATGGTG ATAGATTTTT
 TACTATTTAG AATAAGGAGT
 N
 AAACAATCTT GTCTATTTGT CATCCAGCTC ACCAGTTATC AACTGACGAC CTATCATGTA
 TCTTCTGTAC CCTTACCTTA TTTTGAAGAA AATCCTAGAC ATCAAATCAT TTCACCTATA
 AAAATGTCAT CATATATAAT TAAACAGCTT TTTAAAGAAA CATAACCACA AACCTTTTCA
 AATAATAATA ATAATAATAA

  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
C
G
ss1689107751ExAc_Aggregated_Populations119993AF 0.99999166 0.00000833
ss1689107752ExAc_Aggregated_Populations119993AF 0.999991660.00000833

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0040000

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

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