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dbSNP
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Reference SNP (refSNP) Cluster Report: rs9424286                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1963/983 (1000 Genomes)
T=0.0891/11184 (TOPMED)
HGVS Names
  • CM000663.2:g.3799367G>T
  • NC_000001.10:g.3715931G>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 ss12992566 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9424286 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
ss12992566SC_SNP|NT_004321.15_1022705fwd/BG/Tacctgaggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaactaaa10/22/0310/31/03119Genomicunknown
ss16396608CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_004321.15_1022705fwd/BG/Tacctgaggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaactaaa02/17/0403/04/04120Genomicunknown
ss41092513ABI|hCV26892348fwd/BG/Tacctgaggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaactaaa07/16/0507/17/05126Genomicunknown
ss275691398GMI|GMI_AK_SNP_11559fwd/G/Tacctgaggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaactaaa12/16/1012/16/10137Genomicunknown
ss283990987GMI|GMI_NA10851_SNP_3753fwd/G/Tacctgaggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaactaaa12/17/1012/17/10138Genomicunknown
ss3283764551000GENOMES|20100804_snps_19991_chr1_3715931fwd/G/Tacctgaggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaactaaa03/22/1103/22/11134Genomicunknown
ss553734594TISHKOFF|snp_chr1_3715931fwd/BG/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa11/22/1211/22/12138Genomicunknown
ss647536353SSMP|1_3715931fwd/BG/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa12/14/1202/09/15138Genomicunknown
ss974796307EVA-GONL|EVA-GONL_rs9424286fwd/BG/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa04/23/1404/23/14142Genomicunknown
ss1067627201JMKIDD_LAB|HGDP_WGS_chr1_3715931fwd/BG/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa07/10/1407/10/14142Genomicunknown
ss12894511961000GENOMES|PHASE3_V1_119921fwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa08/16/1408/16/14142Genomicunknown
ss1573860072EVA_GENOME_DK|EVA_GENOME_DK_snv_rs9424286fwd/BG/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa02/19/1502/19/15144Genomicunknown
ss1584155092EVA_DECODE|EVA_DECODE_1_3705791_25831_rs9424286fwd/BG/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa03/02/1503/02/15144Genomicunknown
ss1599427112EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_3715931_53332fwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa03/04/1503/04/15144Genomicunknown
ss1642421145EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_3715931_53332fwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa03/04/1503/04/15144Genomicunknown
ss1917991843WEILL_CORNELL_DGM|SNV:chr1:3715931fwd/BG/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa10/16/1510/16/15147Genomicunknown
ss2019512042JJLAB|SNP14597fwd/BG/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa08/29/1608/30/16149Genomicunknown
ss2147502438USC_VALOUEV|NC_000001.10:g.3715931G>Tfwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa11/17/1611/17/16150Genomicunknown
ss2159573725HUMAN_LONGEVITY|HLI-1-3799367-G-Tfwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa11/18/1611/18/16150Genomicunknown
ss2624271780SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV9068fwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa01/06/1701/06/17151Genomicunknown
ss2697396455GRF|rs9424286fwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa02/13/1702/13/17151Genomicunknown
ss2750971045GNOMAD|rs9424286fwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa05/17/1705/17/17151Genomicunknown
ss2986201115SWEGEN|NC_000001.10:g.3715931G>Tfwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa05/30/1705/30/17151Genomicunknown
ss3343288866CSHL|rs9424286fwd/G/Taggtcaggagttcaagaccagcctgccaacatggtgaaaccccgtcttaa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9424286|allelePos=1888|totalLen=3888|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 TTTTGGAATT CCTGCACTTT TGAGTGGTGT AAACCAAAAC CAAAAttctt ttttttttct
 tgagacggag tctcgctctg tcacccaggc tggagtgcag tgatgctatc ttggttcact
 gcaacctccg cctcctgggt tcaagcaatt ctcctgcctc agcctcccgc tggaactaca
 ggtgcatgcc accgtggccg gttaattttt atattaaccg tgttaatata atttttatat
 taaccggttt tcgccatgtt ggccaggctg gtctcgaaca cctgacctca ggtgatctgc
 tcgcctcagc cccccaaagt gctgggctca caggcacaag ccaccgcacc cagccCCCAA
 ATTCttattt atttatttat ttatttattg agacagagtc ttgctctgtt acccaggctg
 gagtgcagtg gttccagctc ggctcattgc agcctcaact tccctggctc cagtgatcct
 cccacctcag cccctgagta gctggtacca caggcatgtg ccaccacgcc tggctaattt
 ttgtattttt tgtagagctg gggttttgcc atgttgccta ggctggtctc aaacccatga
 actcaagcaa tccacctgcc tcaacctccc aaattgctag gattacaggt gtgagtcacc
 aaacctggcc Aaaaaataaa attctagagg ctgggcacgg tggctcatgc ctgtaatccc
 agcactttgg aaggccgagg cgggcggatc accaggtcag gagatcgaga ccatcctggt
 gaacacggtg aaaccccgtc tctactaaaa atacaaaaaa aattagccgg gcttggtggc
 aggcgcctgt agtcccagct actcgggagg ctgaggcagg agaatggcaa gaacccagag
 ggcggagctt gcagtgagcg gagattgcgc cactgcactc cagcctgggc gacagagtga
 gactccgtct caaaataaat aaataaaaat aaaataaaat tctaagcccc ccaaccatct
 gagtggaccc ctcctctggg ccaagggcat tccctagtta atctgaaaaa ctagttcagg
 ccatgatggg aagggtcgga tgtggagggg taggggttgg acatgcctca ttatattctc
 ctccctttgg gaattcaggc ccacctgacc atcattaata tcaacacaga ctttaagact
 gacaaagcca ggccaggtgt ggtggctcat ggctgtaatc ccagcacttt gagaggccat
 ggcgggtgga tcacttgagg tcaggagttt gagaccagcc tgaccaacat ggtgaaaacc
 catccctact aaaaatacaa aaattagctg ggcatggtgg cgggcgcctg taatccaagc
 tactcgggag gctgaggcag gagaattgct taaacctagg aggcggaggt tgcagtgagc
 caagattgca ccactgcatt ccagcctggg tgacagagcg agactccatc tcaaaataac
 aacaacaata aaagactgac aaagctgact ctttgtagca atgataccaa attctagcct
 gtttctagta gagcattatg tgactgatca aggccctgaa ggaaattgaa gtattttacc
 ccaaattata tttccttgct gtatcttaaa acaatcctgc aaggctgcct attgtggggg
 aaatccacat tctgaagata gtatccttgc tttgctaggc ctttttcctg atccaggaga
 gaatcaactC TGATAATAAA TAAATAAACA AAGAAAAAAA CAAAAACCAT TTACAggccg
 ggcgcggtgg ctcactcctg taatcccaac actttgggag gctgaggcag gcggatcacc
 tgaggtcagg agttcaagac cagcctg
 K
 ccaacatggt gaaaccccgt cttaactaaa aatacaaaaa ttagccaggt ggggtggtgg
 gcgcccgtga tcccagctac ttggaggcta gggcaggagc ttcaacccag gaggcagaag
 ttgcactgag ctgaaattgc accattacac tccagcctgg gcaacagagg gaggctccat
 ctcaaaaaaa aaaaaaaaaa aaaaaaaaaa aaaAAAagaa cttccagggg ctaattttga
 aggaaaccag gctcagagac ccagatgtgg atcctactgc tctggggcag ttaggaagag
 tgagcccacc actactgggc caaagtcagg atgatgcaag ctggaccttc agacagggtg
 ttactcgaga tcaccttcgg aacaagacat gcagccctgc acccccctgc acccccttgc
 acccttctgc atcctcctgc accaccccca catgtttccc acaccaagtt ttccttccaa
 aacctctcac tcagcccaga agacagaggg tctcttggag gcatgagccc agccatgtcc
 catcggctgg catttgttta ataaacggct ttccttccac cacacctcgc ttctcatgtt
 tttggtcttt gagcagccac gcttgagctg gttgcaGatc tggtgccttg tgtgaggcac
 tgtgttgtga gtggctcagc ctgtgtacct ggtttccaat gaaggcagag attggccaca
 gcagtcccag gatttaccca ctcttgctgt caggcaggac agcagctgct tgaaaatgcc
 agctgctcat ggccagctga ccccaaggct aggaccttag ggaattccta gtggctgccg
 agactgcctt tgtcttgggg attttccctt ccctctcctt catgacatca gcatctctca
 tgctctgctg gtgggaggga agcagtatgt gggatgtgaa ctgaagtgca cctggaaatc
 ctctgcatct gccatctggg gctctagctg tctagagcta gtattggtag tctgtggtgc
 cacctgggtc tctgtgccat ctggacctaa cgcaggtaac tctgtggtgc cgcctgggtc
 tctgtgccat ctcgacctaa cgcaggtcgc tctgtggtgc cgcctgggtc tctgtgccat
 ctggacctaa cacaggtcac tctgtggtgc cgcctgggtc tctgtgccat ctggacctaa
 cgcaggtcac tctgtggtgc tgcctgggtc tctgtgccat ctggacctaa cgcaggtcac
 tccatggtgc tgtctgggtc tgggacagga cctcaggact ttgctccaat ctcccctctg
 tttggaggga tctgtttgga gggctgtgtc tacattggat ctatttgtgt ttgtgtctct
 gtttagtgtt gcacccccct ctgagggtgc ttaggcacag tctgcatccc aatggccaag
 actaggtcca tctggttgtc agaaagtagc aagataggct gcccctctcc tcactaggtg
 tatttgtaca ttttcacact gctgataaaa acatacctga gactaagaag aaaaagaggt
 ttaattgggc ttacagttcc acatggctgg ggaggcctca gaatcatgac gggaggtgaa
 aggcacttct tacaaggcgg tggcaagaga aaatgaagaa gatgcaaaag cagaaacccc
 tgataaaacc atcagatctc atgagactta ttcactacct tgagaacggt gtgggggaaa
 ctgcccccat gattcaaatt acctcccacc ttctccctcc cacaacctgt gggaattatg
 ggagtacaat tcaagatgag atttgTGCTG TTATGACCGT CCTTGAAGAT TTCCCTGAAC
 CAGTTAACAT TGTCTCTGAT TCAGCGTAGG TACTACATGT TGCTCACAAC AATTGAAACT
 GCCTTAATCC AATTTCTGCC TGATGATGAC CTATTCTTTC TTTTTCAAAG GTTTCAGTCT
 GTGCCCAGAG CAAGGTCTTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004321
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPG
T
ss1289451196EAS 1008AF 0.481199980.51879996
EUR 1006AF 0.945299980.05470000
AFR 1322AF 0.972000000.02800000
AMR 694AF 0.877500000.12250000
SAS 978AF 0.710600020.28940001

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.316+/-0.2410000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN