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Reference SNP (refSNP) Cluster Report: rs114851469                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:A=0.0110/1068 (ExAC)
A=0.0040/20 (1000 Genomes)
A=0.0083/108 (GO-ESP)
A=0.0073/915 (TOPMED)
HGVS Names
  • CM000663.2:g.21842362G>A
  • NC_000001.10:g.22168855G>A
  • NC_000001.11:g.21842362G>A
  • NG_016740.1:g.99896C>T
  • NM_001291860.1:c.8932C>T
  • NM_005529.6:c.8929C>T
  • NP_001278789.1:p.Arg2978Trp
  • NP_005520.4:p.Arg2977Trp
  • XP_005245916.1:p.Arg3136Trp
  • XP_005245917.1:p.Arg3135Trp
  • XP_005245918.1:p.Arg3119Trp
  • XP_005245919.1:p.Arg2995Trp
  • XP_005245920.1:p.Arg2978Trp
  • XP_005245921.1:p.Arg2956Trp
  • XP_005245922.1:p.Arg3136Trp
  • XP_011539620.1:p.Arg3160Trp
  • XP_016856609.1:p.Arg3042Trp
  • XP_016856610.1:p.Arg3025Trp
  • XP_016856611.1:p.Arg3024Trp
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 ss341942925 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs114851469 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
ss2304581121000GENOMES|pilot_1_CEU_62741_chr1_22041442fwd/A/Gctgagtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcagagcag05/01/1005/01/10132Genomicunknown
ss341942925NHLBI-ESP|ESP2500-chr1-22168855byFreqfwd/TA/Gctgagtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcagagcag03/25/1109/05/14134Genomicunknown
ss491288750EXOME_CHIP|nonsyn_4977_chr_1_22168855fwd/TA/Gctgagtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcagagcag03/05/1203/05/12137Genomicunknown
ss491588354CLINSEQ_SNP|SNV-chr1-22041442byFreqfwd/TA/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag03/06/1209/05/14137Genomicunknown
ss536273093ILLUMINA|HumanOmni5-4v1_B_kgp8394741-0_B_R_1903190169fwd/TA/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag06/22/1208/28/15146Genomicunknown
ss974935350EVA-GONL|EVA-GONL_rs114851469fwd/TA/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag04/23/1404/23/14142Genomicunknown
ss12899926111000GENOMES|PHASE3_V1_683079fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag08/16/1408/16/14142Genomicunknown
ss1584005715EVA_FINRISK|EVA_FINRISK_rs114851469fwd/TA/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag02/27/1502/27/15144Genomicunknown
ss1584293668EVA_DECODE|EVA_DECODE_1_22041442_164406_rs114851469fwd/TA/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag03/02/1503/02/15144Genomicunknown
ss1599704839EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_22168855_359358fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag03/04/1503/04/15144Genomicunknown
ss1642698872EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_22168855_359358fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag03/04/1503/04/15144Genomicunknown
ss1685376719EVA_EXAC|EVA_EXAC_171103fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag03/04/1503/04/15144Genomicunknown
ss1710894533EVA_MGP|EVA_XIMO_11285fwd/TA/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag03/09/1503/09/15144Genomicunknown
ss1958251508ILLUMINA|1:22168855-GA-0_T_F_2299183736fwd/TA/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag11/13/1511/13/15147Genomicunknown
ss2019585451JJLAB|SNP88006fwd/TA/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag08/29/1608/30/16149Genomicunknown
ss2160635817HUMAN_LONGEVITY|HLI-1-21842362-G-Afwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag11/18/1611/18/16150Genomicunknown
ss2322822382TOPMED|1_22168855_G/Afwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag11/19/1611/19/16150Genomicunknown
ss2731231514GNOMAD|exomes_rs114851469fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag05/17/1705/17/17151Genomicunknown
ss2746251973GNOMAD|coding_rs114851469fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag05/17/1705/17/17151Genomicunknown
ss2752543261GNOMAD|rs114851469fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag05/17/1705/17/17151Genomicunknown
ss2984848994AFFY|Axiom_PsorMich_Affx-35320265fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag05/24/1705/24/17151Genomicunknown
ss2985501691AFFY|Axiom_Smokesc1_Affx-35320265fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag05/24/1705/24/17151Genomicunknown
ss2986448293SWEGEN|NC_000001.10:g.22168855G>Afwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag05/30/1705/30/17151Genomicunknown
ss3021065009ILLUMINA|MEGA_Consortium_v2_15070954_A2_1:22168855-GA-0_T_F_2299183736fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag06/28/1706/28/17151Genomicunknown
ss3070644563TOPMED|TOPMed_freeze_5?chr1:21,842,362fwd/A/Gtcggcaggggagacgaggtggagcccagctgggagccatgggtctgtcag09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs114851469|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GGGTCGATGG AGATGACCGG GCTCCTAAGG CCTGGGGCCA AAGGGGCAGA GGGCTGGGCT
 CAGCAGGGGT GGGCTTAGCT TCAGGGCCCT CCCTTCCCCC CTTGCCCATG GCATCTGCCA
 TACTCACGGT AGGAAGACCC CTCACTGGGC GGGACGGTGA CTGTGAAGGA GGCTTCTTGC
 TCAGGGCCTG GGCCGCTGGC TGCACGACAC ACATACTCGC CTGAGTCGGC AGGGGAGACG
 AGGTGGAGCC
 R
 CAGCTGGGAG CCATGGGTCT GTCAGAGCAG CGAGGGGACA GTTATCAGGG CAAAGTCCCC
 AGGACAAGGA ATGTCCCCAA GCCCAACTGT GCCGGTACCC AAGAGTTCTC TCGGAAGCTC
 AGGGTCTCAG CTGGTAGGGC TGGTGGAAGC TTCATTCACA GAATCCTAGA GGTCCAACCC
 ACTCACTTTA CAGTGGAGGA AACTGAGGCC CAGGAAAGGA TTCAGCTGCA GAGCCAAGAG
 AAAAACCCAG

  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 AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1289992611EAS 1008AF 1.00000000
EUR 1006AF 0.008000000.99200004
AFR 1322AF 1.00000000
AMR 694AF 0.005800000.99419999
SAS 978AF 0.008200000.99180001
ss1685376719ExAc_Aggregated_Populations121376AF 0.009046270.99095374
ss230458112pilot_1_CEU_low_coverage_panel 120AF 0.016666670.98333335
ss341942925ESP_Cohort_Populations 4366GF 0.014658730.985341250.751830000.007329360.99267066
ss491588354CSAgilent 469GF 0.034000000.965999961.000000000.017000000.98299998

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.022+/-0.1020000

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

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