NCBI
dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs9424282                 
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:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4962/2485 (1000 Genomes)
C=0.4337/54465 (TOPMED)
HGVS Names
  • CM000663.2:g.3788457T>C
  • NC_000001.10:g.3705021T>C
  • NC_000001.11:g.3788457T>C
  • NM_020710.2:c.616-1147A>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 ss275691377 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9424282 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
ss12992562SC_SNP|NT_004321.15_1011795fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct10/22/0310/31/03119Genomicunknown
ss19868035CSHL-HAPMAP|CSHL-HuFF-200402.chr1.NT_004321.15_1011795fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct02/21/0403/04/04120Genomicunknown
ss20518462SSAHASNP|WGSA-200403-chr1.chr1.NT_004321.15_1011795fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct03/18/0403/18/04121Genomicunknown
ss44031829ABI|hCV26892330fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct07/18/0507/18/05126Genomicunknown
ss77819145HGSV|Cor12156_SNV_20070510.chr1_3728178fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct10/09/0710/14/07129Genomicunknown
ss97915439HUMANGENOME_JCVI|1103675006387fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct03/30/0803/30/08130Genomicunknown
ss105114903BGI|BGI_rs9424282fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct08/06/0806/16/09131Genomicunknown
ss1099670761000GENOMES|NA19240_2008_12_16_3689_chr1_3694881fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct12/17/0812/17/08130Genomicunknown
ss138972028ENSEMBL|ENSSNP214993byFreqfwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct12/08/0803/07/10131Genomicunknown
ss163004629COMPLETE_GENOMICS|NA19240_36_chr1_3694881fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct09/29/0909/29/09132Genomicunknown
ss163737523COMPLETE_GENOMICS|NA07022_36_chr1_3694881fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct09/28/0909/29/09132Genomicunknown
ss197924586BUSHMAN|BUSHMAN-chr1-3694880fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct02/16/1003/05/10132Genomicunknown
ss205232691BCM-HGSC-SUB|BCM_CMT_1011-96087fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct03/15/1003/15/10132Genomicunknown
ss2182031831000GENOMES|pilot_1_YRI_12866_chr1_3694881fwd/C/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct04/22/1004/22/10132Genomicunknown
ss2304040641000GENOMES|pilot_1_CEU_8693_chr1_3694881fwd/C/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct05/01/1005/01/10132Genomicunknown
ss2381229631000GENOMES|pilot_1_CHB+JPT_8040_chr1_3694881fwd/C/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct05/01/1005/01/10132Genomicunknown
ss252880159BL|SNP4443_1_3694881fwd/BC/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct08/18/1008/18/10134Genomicunknown
ss275691377GMI|GMI_AK_SNP_11538fwd/C/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct12/16/1012/16/10137Genomicunknown
ss283990978GMI|GMI_NA10851_SNP_3744fwd/C/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct12/17/1012/17/10138Genomicunknown
ss290498261PJP|SNP_4619_chr1_3694881fwd/C/Tccttggtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggtagggct01/21/1101/21/11134Genomicunknown
ss536043951ILLUMINA|HumanOmni5-4v1_B_kgp7106492-0_T_R_1896800607fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta06/22/1208/28/15146Genomicunknown
ss553734550TISHKOFF|snp_chr1_3705021fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta11/22/1211/22/12138Genomicunknown
ss647536303SSMP|1_3705021fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta12/14/1202/09/15138Genomicunknown
ss974796214EVA-GONL|EVA-GONL_rs9424282fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta04/23/1404/23/14142Genomicunknown
ss1067627142JMKIDD_LAB|HGDP_WGS_chr1_3705021fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta07/10/1407/10/14142Genomicunknown
ss12894508481000GENOMES|PHASE3_V1_119559fwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta08/16/1408/16/14142Genomicunknown
ss1425692901DDI|DDI_rs9424282fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta11/04/1411/04/14144Genomicunknown
ss1573860025EVA_GENOME_DK|EVA_GENOME_DK_snv_rs9424282fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta02/19/1502/19/15144Genomicunknown
ss1584154999EVA_DECODE|EVA_DECODE_1_3694881_25738_rs9424282fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta03/02/1503/02/15144Genomicunknown
ss1599426949EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_3705021_53152fwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta03/04/1503/04/15144Genomicunknown
ss1642420982EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_3705021_53152fwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta03/04/1503/04/15144Genomicunknown
ss1793784831HAMMER_LAB|Hsieh_12064fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta07/15/1507/15/15146Genomicunknown
ss1917991750WEILL_CORNELL_DGM|SNV:chr1:3705021fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta10/16/1510/16/15147Genomicunknown
ss1966671320GENOMED|rs9424282fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta02/16/1602/16/16147Genomicunknown
ss2019511991JJLAB|SNP14546fwd/BC/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta08/29/1608/30/16149Genomicunknown
ss2147502392USC_VALOUEV|NC_000001.10:g.3705021T>Cfwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta11/17/1611/17/16150Genomicunknown
ss2159572918HUMAN_LONGEVITY|HLI-1-3788457-T-Cfwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta11/18/1611/18/16150Genomicunknown
ss2624271752SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV9037fwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta01/06/1701/06/17151Genomicunknown
ss2697396399GRF|rs9424282fwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta02/13/1702/13/17151Genomicunknown
ss2750969986GNOMAD|rs9424282fwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta05/17/1705/17/17151Genomicunknown
ss2986200976SWEGEN|NC_000001.10:g.3705021T>Cfwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta05/30/1705/30/17151Genomicunknown
ss3023519622BIOINF_KMB_FNS_UNIBA|1.3788457T>Cfwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta07/05/1707/05/17151Genomicunknown
ss3343288817CSHL|rs9424282fwd/C/Tgtcagtgtggctggtgagtcctagtacactgggtgtggaggagacaggta10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9424282|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 ACAAAGATGC CCAGGAAGCC CCGTGGCCCA CGGGAAAGCG TTTTCTATGA CCGTGACTGA
 TCAGACTTTG GCAAAACGTG CAGGTGACCT CACTGAAAGG ATGGAAGGGG TACAGTGGCA
 CCTGATGCAC TCTTAGGATG TCTTTCCCAG GGTCTGGGCA GCGCAGGGAA CGTGCGTGTG
 AGGGCAGCCA CTTCCATGAC GTGAGGCGGC CGCTGCAGGT TCAGGCAAAA GGGGCCCATC
 CGCCTCCACT CTGCTCTTTC CTGGCTTGGT ACCCAGGCCC CACAGCCTTG CCTGGGTGGT
 GGGGCAGGCA CTGCGAGCAA ACCCTTCTGT CCCAGCTTCC TCTAGGGCTG GAGGAAGACC
 CTGCTCAGGA TGCAAAGCCT GACCCTCGGG GATCTCTGGC AGCCTCGGTG CCGGCTCTGC
 CCCCAGAGAG GAGGCAACAG CATGTGGGCC CCCTGGAAGC CAGCACTCGC CCTTGGTCAG
 TGTGGCTGGT GAGTCCTAGT
 Y
 ACACTGGGTG TGGAGGAGAC AGGTAGGGCT GGACTTGATA GACTCTGAAC AGAGTTGGGG
 ATGGGCTGAT TACTCAGAGG ACACCTCCTG CTTCGCCTGG AATGGATGGC AGGGGTGATG
 GAATTTCTCA AGCCCCAAGT TGTGAAGGAA ATGAAAAAAG GAACCTGCTG GAATCCTCCG
 GCTCAAGCAA TCAAGCTGCT CAGACACGGG TAAGGGCAGC ATGGCTCAGA AATGGGATGG
 CGCTCAGAAG CGGGAAGGGT GGCACGGCTC AGACATGGGA GGGTGCACTG GATGAGTTCC
 CTCAGGGAGA ACAGAGACCC AGGGAGGAAG CGACAACTTA ACAGTCAAGC AGGAACAGCA
 TGTGTAAAAG AAATAAAAGG GCTCGCGTGC CCTCTGGGAG AGAATGGGGC AGTCTAAGCA
 GCAGTGACGC CTGCTGGGGA AGAACACAAG GCAGGGGCTG AGACCAAGCC CAGCTGCTGG
 GCACTACCTG AGCCACGCGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004321 ABBA01073653
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
T/T
HWPC
T
ss1289450848EAS 1008AF 0.656700020.34329998
EUR 1006AF 0.349899980.65009999
AFR 1322AF 0.622500000.37750000
AMR 694AF 0.355899990.64410001
SAS 978AF 0.448900010.55110002
ss138972028ENSEMBL_Venter 2IG1.00000000 1.00000000
ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss163004629YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss163737523CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss197924586BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss218203183pilot_1_YRI_low_coverage_panel 118AF 0.559322060.44067797
ss230404064pilot_1_CEU_low_coverage_panel 120AF 0.366666670.63333333
ss238122963pilot_1_CHB+JPT_low_coverage_panel 120AF 0.658333360.34166667
ss44031829ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss97915439J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.500+/-0.0040000

  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