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dbSNP
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Reference SNP (refSNP) Cluster Report: rs9424287                 
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:C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.3974/49902 (TOPMED)
HGVS Names
  • CM000663.2:g.3820529T>C
  • NC_000001.10:g.3737093T>C
  • NC_000001.11:g.3820529T>C
  • NG_046726.1:g.41705A>G
  • NM_014704.3:c.2571+2645A>G
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 ss275691475 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9424287 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
ss12992578SC_SNP|NT_004321.15_1043867fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt10/22/0310/31/03119Genomicunknown
ss16418774CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_004321.15_1043867fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt02/17/0403/04/04120Genomicunknown
ss20570377SSAHASNP|WGSA-200403-chr1.chr1.NT_004321.15_1043867fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt03/18/0403/18/04121Genomicunknown
ss102715124BGI|BGI_rs9424287fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggayggcggcctctgtccagggtt06/04/0806/16/09131Genomicunknown
ss118453546ILLUMINA-UK|NA18507_000003503_NCBI36.1_chr1_3726953fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt01/21/0901/21/09130Genomic99 %
ss143654309ENSEMBL|ENSSNP5314189fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt12/08/0810/17/09131Genomicunknown
ss163004915COMPLETE_GENOMICS|NA19240_36_chr1_3726953fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt09/29/0909/29/09132Genomicunknown
ss163738231COMPLETE_GENOMICS|NA07022_36_chr1_3726953fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt09/28/0909/29/09132Genomicunknown
ss197925130BUSHMAN|BUSHMAN-chr1-3726952fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt02/16/1003/05/10132Genomicunknown
ss205410980BCM-HGSC-SUB|BCM_CMT_1011-184459fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt03/15/1003/15/10132Genomicunknown
ss2104549921000GENOMES|YRI.trio.3.2010_2096_chr1_3726953fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt03/29/1003/29/10132Genomicunknown
ss252880451BL|SNP4516_1_3726953fwd/BC/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt08/18/1008/18/10134Genomicunknown
ss275691475GMI|GMI_AK_SNP_11636fwd/C/Tctgtctggggtggaggaaggcagatggaagggggcaggatggcggcctctgtccagggtt12/16/1012/16/10137Genomicunknown
ss647536523SSMP|1_3737093fwd/BC/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca12/14/1202/09/15138Genomicunknown
ss974796532EVA-GONL|EVA-GONL_rs9424287fwd/BC/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca04/23/1404/23/14142Genomicunknown
ss1793785162HAMMER_LAB|Hsieh_12169fwd/BC/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca07/15/1507/15/15146Genomicunknown
ss1917992061WEILL_CORNELL_DGM|SNV:chr1:3737093fwd/BC/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca10/16/1510/16/15147Genomicunknown
ss1958234778ILLUMINA|JHU_1.3737092-1_B_F_2245165132fwd/BC/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca11/13/1511/13/15147Genomicunknown
ss2147502561USC_VALOUEV|NC_000001.10:g.3737093T>Cfwd/C/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca11/17/1611/17/16150Genomicunknown
ss2159575195HUMAN_LONGEVITY|HLI-1-3820529-T-Cfwd/C/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca11/18/1611/18/16150Genomicunknown
ss2624271854SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV9157fwd/C/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca01/06/1701/06/17151Genomicunknown
ss2697396598GRF|rs9424287fwd/C/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca02/13/1702/13/17151Genomicunknown
ss2750973065GNOMAD|rs9424287fwd/C/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca05/17/1705/17/17151Genomicunknown
ss3021047659ILLUMINA|MEGA_Consortium_v2_15070954_A2_JHU_1.3737092-1_B_F_2245165132fwd/C/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca06/28/1706/28/17151Genomicunknown
ss3023519714BIOINF_KMB_FNS_UNIBA|1.3820529T>Cfwd/C/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca07/05/1707/05/17151Genomicunknown
ss3343288983CSHL|rs9424287fwd/C/Ttggggtggaggaaggcagatggaagggggcaggatggcggcctctgtcca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9424287|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AGGGAACCCG TGAGGTAATG AGTGAGTGTG TTTTCTGCTT ATGCTGAAGG GTGTGTGGTG
 ATGTGTAAGG CAGTGCAGAT AATGAGATAC AGGGAAAGCA GATGACACAT GAGATACGCC
 TGGTGACAGC CTTACAGGTA CTACCTGTAA GAGGATGTCA ATTCAAATCA GATGTTGGGA
 ACAAGAAGGG AAGGAAGAAA AGGCAGTTAC AGGAGAATGT GAGTACTGCT CCTAGTAGGA
 AACCAATGGC AATAACTGAA ATCAGAGGGG ATGATGGGCA TTGCACGGGA GGACAAGTAA
 AGGTAACAAC TCGAATGCAA ACACAAAGGC TCCCACATTC TGGAGATAAC CAGGGGAAAA
 GATGTATGTG CAGTGAAAAC TGCTTCTATT GGGTAGAAAA GGGGCAGGAT GCCCTGTAGG
 AAAAGCAGCC CCTGGAGGAA GGCGGATGGA AGCGGGGCAG GACGGCGCCT CTGTCTGGGG
 TGGAGGAAGG CAGATGGAAG
 Y
 GGGGCAGGAT GGCGGCCTCT GTCCAGGGTT CTTCCAAGAT GCCTGATTCT ATCGACCCGG
 AAACATGTCT TCTGTAATTA CAGAACTTAA TTCTTTAAAG TCCCCTAGAA ATGTAATATA
 AAATGAATGT ATTTACAGTT GGTGGCACTG CTAGCCAGGG CTCACCCAAG TCCCTCCAAC
 ACAGGGCCAC TGGGACCCCC GTCACCAGTG GCAGATGTGG TCAGGACAAG AACTGGGAAC
 AGATCTAATT TCCAGTGGCA TCTCCTGCTG GCGGTGCAGG TGCCACTGTG CTGGGGCTGC
 CGCAGGTGCA GTGGGGGCCA AGGTGAACTG GTCGCCTCCA ATACCTGAAT TCTGTCTCCT
 GGGCCTTTGG AAACCGGGGC CCATGGATGT AAGAAAGGAG ACACAGATGT TGGGAGAGAC
 AAGGTTAAAT AAAGCCTGCA GCTCAGAACG GGAAGGGGAA GTGTGTGTGC ATGAGTGATG
 GAGCTTACTT CCCTTGATTT

  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 AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
HWPC
T
ss118453546YRI 2IG 1.00000000 0.500000000.50000000
ss143654309ENSEMBL_Venter 2IG1.00000000 1.00000000
ss163004915YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss163738231CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss197925130BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.480+/-0.0980000

  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