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Reference SNP (refSNP) Cluster Report: rs114834790                 
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/C (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0002/21 (ExAC)
A=0.0004/2 (1000 Genomes)
A=0.0004/5 (GO-ESP)
A=0.0006/71 (TOPMED)
HGVS Names
  • CM000663.2:g.11649835C>A
  • NC_000001.10:g.11709892C>A
  • NC_000001.11:g.11649835C>A
  • NM_012168.5:c.561G>T
  • NP_036300.2:p.Glu187Asp
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 ss341932876 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs114834790 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
ss2174058621000GENOMES|pilot_3_LWK_25_chr1_11632479byFreqfwd/TA/Cagtcgtgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtgctttg04/09/1009/05/14132Genomicunknown
ss341932876NHLBI-ESP|ESP2500-chr1-11709892fwd/TA/Cagtcgtgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtgctttg03/25/1103/25/11134Genomicunknown
ss4886519311000GENOMES|20110521_exome_2788_chr1_11709892fwd/TA/Cagtcgtgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtgctttg02/10/1202/13/12137Genomicunknown
ss491286195EXOME_CHIP|nonsyn_2422_chr_1_11709892fwd/TA/Cagtcgtgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtgctttg03/05/1203/05/12137Genomicunknown
ss780747641ILLUMINA|HumanOmni25Exome-8v1_A_exm14843-0_B_R_1921428286fwd/TA/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg05/30/1307/09/15146Genomicunknown
ss783425468ILLUMINA|HumanOmniExpressExome-8v1_A_exm14843-0_B_R_1921428286fwd/TA/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg05/31/1306/18/15146Genomicunknown
ss12896965451000GENOMES|PHASE3_V1_375272fwd/A/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg08/16/1408/16/14142Genomicunknown
ss1685301705EVA_EXAC|EVA_EXAC_91087fwd/A/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg03/04/1503/04/15144Genomicunknown
ss1751865781ILLUMINA|OmniExpressExome-8v1-1_B_exm14843-0_B_R_1921428286fwd/TA/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg05/27/1506/09/15146Genomicunknown
ss1917722666ILLUMINA|HumanExome-12v1-1_B_exm14843-0_B_R_1921428286fwd/TA/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg10/16/1510/16/15147Genomicunknown
ss1945984695ILLUMINA|HumanCoreExome-12v1-0_C_exm14843-0_B_R_1921428286fwd/TA/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg10/29/1510/29/15147Genomicunknown
ss1958241445ILLUMINA|exm14843-0_B_R_1921428286fwd/TA/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg11/13/1511/13/15147Genomicunknown
ss2160076975HUMAN_LONGEVITY|HLI-1-11649835-C-Afwd/A/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg11/18/1611/18/16150Genomicunknown
ss2731117034GNOMAD|exomes_rs114834790fwd/A/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg05/17/1705/17/17151Genomicunknown
ss2746214259GNOMAD|coding_rs114834790fwd/A/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg05/17/1705/17/17151Genomicunknown
ss2751661182GNOMAD|rs114834790fwd/A/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg05/17/1705/17/17151Genomicunknown
ss2984845246AFFY|Axiom_PsorMich_Affx-35310716fwd/A/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg05/24/1705/24/17151Genomicunknown
ss3021054490ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm14843-0_B_R_1921428286fwd/A/Ctgtccagcagctcctcccagtagcctcagcctgcaggtcaatgacctgtg06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs114834790|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 ACTCAGGAGG GGAGGTGGGT TTCCAGGTTC TCCTGCAAAC ACGGAAGTTG TCAACCTTTG
 CAGACCCGTG GCCCACGTGG CCTCAACCCC TGCAGTGGGG AGGCAGCACC CCCAGGCGGG
 GGGTTCCCCA GCTGGCTCTC CCCTCTGCCT TACCCCGCTC CTCCCAGCCC CATGCCACCC
 CAGGACCCTC TCACCAGTCC TTCACCACGA TGGCCGGCTG AGTCGTGTCC AGCAGCTCCT
 CCCAGTAGCC
 M
 TCAGCCTGCA GGTCAATGAC CTGTGCTTTG CGACACCACC TGGGAGAACT GGAGTTAGGA
 CAGAGCGAAC GCTCCCCCCT TCCCACCTCC TCCACCCCCT TCTCCTTACT CAAAGGAGGA
 GGCGAAGTAC TTCTTGACGC TCTCATCGTG GGTGAACTCC ACCCCACTGT CTCCAGGCAG
 CTCCTCCACC CTCCAGCCGT CCCCACCATG CTCCACGTCA CACCAGCCTT CCAAGTCCTC
 TGTAGGGACA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis
3D structure mapping
NP_036300  

  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/C
C/C
HWPA
C
ss1289696545EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.001500000.99849999
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685301705ExAc_Aggregated_Populations121410AF 0.000172970.99982703
ss217405862pilot_3_LWK_exon_capture_panel 216AF 0.013888890.98611110
ss341932876ESP_Cohort_Populations 4550GF 0.000439560.999560421.000000000.000219780.99978024

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0130000

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