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Reference SNP (refSNP) Cluster Report: rs74702490                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
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:NA
MAF/MinorAlleleCount:A=0.0685/343 (1000 Genomes)
A=0.0192/2410 (TOPMED)
HGVS Names
  • CM000676.2:g.67437806G>A
  • NC_000014.8:g.67904523G>A
  • NC_000014.9:g.67437806G>A
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 ss282045552 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs74702490 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
ss155929300GMI|GMI_SNP_25133900fwd/TA/Gaacccaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcaggtggac06/24/0906/24/09131Genomicunknown
ss200208232BUSHMAN|BUSHMAN-chr14-66974275fwd/TA/Gaacccaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcaggtggac02/16/1003/07/10132Genomicunknown
ss2430096391000GENOMES|pilot_1_CHB+JPT_4894716_chr14_66974276fwd/A/Gaacccaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcaggtggac05/01/1005/01/10132Genomicunknown
ss282045552GMI|GMI_AK_SNP_6365941fwd/A/Gaacccaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcaggtggac12/16/1012/16/10137Genomicunknown
ss534452607ILLUMINA|HumanOmni5-4v1_B_kgp19683895-0_T_F_1898715892fwd/TA/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg06/22/1208/29/15146Genomicunknown
ss659846315SSMP|14_67904523fwd/TA/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg12/14/1202/13/15138Genomicunknown
ss1079742208JMKIDD_LAB|HGDP_WGS_chr14_67904523fwd/TA/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg07/10/1407/12/14142Genomicunknown
ss13514418911000GENOMES|PHASE3_V1_64688334fwd/A/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg08/16/1408/16/14142Genomicunknown
ss1577320736EVA_GENOME_DK|EVA_GENOME_DK_snv_rs74702490fwd/TA/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg02/19/1502/19/15144Genomicunknown
ss1631970300EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_14_67904523_35802545fwd/A/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg03/04/1503/04/15144Genomicunknown
ss1674964333EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_14_67904523_35802545fwd/A/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg03/04/1503/04/15144Genomicunknown
ss1695265728EVA_DECODE|EVA_DECODE_14_66974276_380851_rs74702490fwd/TA/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg03/02/1503/04/15144Genomicunknown
ss1934634526WEILL_CORNELL_DGM|SNV:chr14:67904523fwd/TA/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg10/16/1510/17/15147Genomicunknown
ss1967987429GENOMED|rs74702490fwd/TA/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg02/16/1602/16/16147Genomicunknown
ss2028097462JJLAB|SNP8600017fwd/TA/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg08/29/1608/31/16149Genomicunknown
ss2202892599HUMAN_LONGEVITY|HLI-14-67437806-G-Afwd/A/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg11/18/1611/18/16150Genomicunknown
ss2367266443TOPMED|14_67904523_G/Afwd/A/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg11/19/1611/19/16150Genomicunknown
ss2700903129GRF|rs74702490fwd/A/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg02/13/1702/13/17151Genomicunknown
ss2928947690GNOMAD|rs74702490fwd/A/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg05/23/1705/23/17151Genomicunknown
ss3012380100SWEGEN|NC_000014.8:g.67904523G>Afwd/A/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg05/30/1705/30/17151Genomicunknown
ss3214065728TOPMED|TOPMed_freeze_5?chr14:67,437,806fwd/A/Gaaagacgggtggtaccatttaccacgtggaggagactggtgggaggcagg10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs74702490|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AAATTGTAGT GAGTACGCAG AAGGAAATAC ACAGGTACAG CGATGGGAAA TAAGTGGGCT
 TCTGCTTCAG ATAAGATGGT CAGGGAAGGC TGAGCTGAGC CTGGTTGGAG GGGTGGGCAG
 CGGCCAGATT AGGCAGACCA AGTTAGGAGA TTTCCATTTT TGTCTGAGTC TAATGGGAAG
 TGATTGGAGG GCTCTAAGCA AGTGACACGG TCTGATTTCA ATGTCCAAAC CTCACGGCGG
 CTGTACGTCT GAGAATAGGC TGTGCGGGCA GCCGTGGGAG GAAGGAGAGC AGACAGGAGC
 CTCTCTAGCA TCCAGGGGGA AGAGGATGCT GGCTGGGACT TGCTGGAGGA GGGGGGAGAG
 AGAGGTGGGA GGAAATGAGA TGTATTTGGG AGGTTGTACC TAGAGGACTT ACTGATGGGC
 TGGAGTGAGG AAGAGGAAAC AGGCCTGAAT CCCAGATTTC TAGCTTGAGC AACCCAAAGA
 CGGGTGGTAC CATTTACCAC
 R
 GTGGAGGAGA CTGGTGGGAG GCAGGTGGAC AAAGAAGGGG GGTTGGGAGG AGGTTTTGCT
 GGTCTTTAGG CTTGTCCTGA TTCCAAAGTC AAGAAAGTCA TTATTTATGT GCCTTTCCTA
 TCAGCCTATT AGACCTCATT TTTATATGTG GTTAAACTGT GGTTGAGCCC ACTGAGTCAA
 GAGGGCTGAG AGATAGTACC AAGGAGCCAG TTTGGTATTT GGGGCGGTCT GCTCCTGGGA
 CAAAGGGCTC CCAGTCTAGT GTCCGTGCTC CCCAGCTGTC ACCCCCCTCC CAATCATCTC
 CCCAAGGTCC TTCAAGCCAT GTTGGCAAAG CTCCCAGGAC AGTATGCTCT GGCCCCAAGA
 TGTTTTGTCT CATCCCTAAT CTCCCCTGAG CCTCCCTCCT TTTCTCAAAA TGTCTTTTCC
 AGTGCCCTGG CTTGGGTCAG TGTCTAGAAG GTGGGGTGAT CAGGGGCTGG ACCAGGAACC
 TGGCAAGCAG GGAGATTTGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000014
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/G
HWPA
G
ss1351441891EAS 1008AF 0.119000000.88099998
EUR 1006AF 0.001000000.99900001
AFR 1322AF 0.002300000.99769998
AMR 694AF 0.103700000.89630002
SAS 978AF 0.150300000.84969997
ss200208232BUSHMAN_POP2 2IG1.00000000 0.500000000.50000000
ss243009639pilot_1_CHB+JPT_low_coverage_panel 120AF 0.058333330.94166666

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.128+/-0.2180000

  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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