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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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained.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: rs9424284                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
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:T=0.3005/1505 (1000 Genomes)
T=0.3246/40765 (TOPMED)
HGVS Names
  • CM000663.2:g.3789974T>C
  • NC_000001.10:g.3706538T>C
  • NC_000001.11:g.3789974T>C
  • NM_020710.2:c.616-2664A>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 ss275691382 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9424284 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
ss12992564SC_SNP|NT_004321.15_1013312fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta10/22/0310/31/03119Genomicunknown
ss20567099SSAHASNP|WGSA-200403-chr1.chr1.NT_004321.15_1013312fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta03/18/0403/18/04121Genomicunknown
ss41134670ABI|hCV29815760byFreqfwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta07/16/0511/03/06126Genomicunknown
ss82953731HGSV|Cor19240_SNV_20070510.chr1_3729695fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta11/30/0712/04/07130Genomicunknown
ss87174229BCMHGSC_JDW|JWB-0002780fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta02/26/0802/26/08129Genomicunknown
ss97915442HUMANGENOME_JCVI|1103675006390fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta03/30/0803/30/08130Genomicunknown
ss105114908BGI|BGI_rs9424284fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta08/06/0806/16/09131Genomicunknown
ss1099670971000GENOMES|NA19240_2008_12_16_3692_chr1_3696398fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta12/17/0812/17/08130Genomicunknown
ss118453396ILLUMINA-UK|NA18507_000003468_NCBI36.1_chr1_3696398fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta01/21/0901/21/09130Genomic99 %
ss137763483ENSEMBL|ENSSNP11476257fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta05/15/0905/16/09131Genomicunknown
ss138971977ENSEMBL|ENSSNP215021fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta12/08/0810/16/09131Genomicunknown
ss160986541ILLUMINA|HumanOmni1-Quad_v1-0_B_rs9424284-128_B_F_1568002458fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta08/04/0910/05/09131Genomicunknown
ss163004638COMPLETE_GENOMICS|NA19240_36_chr1_3696398fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta09/29/0909/29/09132Genomicunknown
ss163737583COMPLETE_GENOMICS|NA07022_36_chr1_3696398fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta09/28/0909/29/09132Genomicunknown
ss197924635BUSHMAN|BUSHMAN-chr1-3696397fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta02/16/1003/05/10132Genomicunknown
ss205160876BCM-HGSC-SUB|BCM_CMT_1011-60124fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta03/15/1003/15/10132Genomicunknown
ss2182031921000GENOMES|pilot_1_YRI_12875_chr1_3696398fwd/C/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta04/22/1004/22/10132Genomicunknown
ss2304040741000GENOMES|pilot_1_CEU_8703_chr1_3696398fwd/C/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta05/01/1005/01/10132Genomicunknown
ss2381229721000GENOMES|pilot_1_CHB+JPT_8049_chr1_3696398fwd/C/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta05/01/1005/01/10132Genomicunknown
ss252880183BL|SNP4449_1_3696398fwd/BC/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta08/18/1008/18/10134Genomicunknown
ss275691382GMI|GMI_AK_SNP_11543fwd/C/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta12/16/1012/16/10137Genomicunknown
ss283990983GMI|GMI_NA10851_SNP_3749fwd/C/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta12/17/1012/17/10138Genomicunknown
ss290498268PJP|SNP_4626_chr1_3696398fwd/C/Tcccgcaaggatgtgaggtgcacactggcttggggaggatgagttacacagggggtggcta01/21/1101/21/11134Genomicunknown
ss481897495ILLUMINA|HumanOmni2.5-4v1_B_rs9424284-128_B_F_1568002458fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt01/30/1210/28/16137Genomicunknown
ss481930608ILLUMINA|HumanOmniExpress-12v1_C_rs9424284-131_B_F_1858017758fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt01/30/1210/27/16137Genomicunknown
ss482888114ILLUMINA|HumanOmni1-Quad_v1-0_C_rs9424284-131_B_F_1865267016fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt01/30/1208/28/15146Genomicunknown
ss485742753ILLUMINA|HumanOmni2.5-4v1_D_rs9424284-131_B_F_1858017758fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt01/30/1210/27/16137Genomicunknown
ss537597637ILLUMINA|HumanOmni5-4v1_B_rs9424284-131_B_F_1895000740fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt06/22/1208/28/15146Genomicunknown
ss553734562TISHKOFF|snp_chr1_3706538fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt11/22/1211/22/12138Genomicunknown
ss647536319SSMP|1_3706538fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt12/14/1202/09/15138Genomicunknown
ss778716358ILLUMINA|HumanOmni25Exome-8v1_A_rs9424284-131_B_F_1865267016fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt05/30/1307/09/15142Genomicunknown
ss783317152ILLUMINA|HumanOmni2.5-4v1_H_rs9424284-131_B_F_1858017758fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt05/30/1307/28/15142Genomicunknown
ss784269145ILLUMINA|HumanOmniExpressExome-8v1_A_rs9424284-131_B_F_1895000740fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt05/31/1306/18/15142Genomicunknown
ss832578691ILLUMINA|HumanOmniExpress-12v1_H_rs9424284-131_B_F_1858017758fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt09/17/1306/18/15144Genomicunknown
ss834175653ILLUMINA|HumanOmni2.5-8v1_A_rs9424284-131_B_F_1865267016fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt09/18/1307/28/15142Genomicunknown
ss974796232EVA-GONL|EVA-GONL_rs9424284fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt04/23/1404/23/14142Genomicunknown
ss1067627157JMKIDD_LAB|HGDP_WGS_chr1_3706538fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt07/10/1407/10/14142Genomicunknown
ss12894509091000GENOMES|PHASE3_V1_119621fwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt08/16/1408/16/14142Genomicunknown
ss1425692909DDI|DDI_rs9424284fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt11/04/1411/04/14144Genomicunknown
ss1573860037EVA_GENOME_DK|EVA_GENOME_DK_snv_rs9424284fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt02/19/1502/19/15144Genomicunknown
ss1584155021EVA_DECODE|EVA_DECODE_1_3696398_25760_rs9424284fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt03/02/1503/02/15144Genomicunknown
ss1599426985EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_3706538_53188fwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt03/04/1503/04/15144Genomicunknown
ss1642421018EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_3706538_53188fwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt03/04/1503/04/15144Genomicunknown
ss1751917811ILLUMINA|OmniExpressExome-8v1-1_B_rs9424284-131_B_F_1895000740fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt05/27/1506/09/15146Genomicunknown
ss1793784839HAMMER_LAB|Hsieh_12067fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt07/15/1507/15/15146Genomicunknown
ss1917991773WEILL_CORNELL_DGM|SNV:chr1:3706538fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt10/16/1510/16/15147Genomicunknown
ss1966671325GENOMED|rs9424284fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt02/16/1602/16/16147Genomicunknown
ss2019512005JJLAB|SNP14560fwd/BC/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt08/29/1608/30/16149Genomicunknown
ss2147502400USC_VALOUEV|NC_000001.10:g.3706538T>Cfwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt11/17/1611/17/16150Genomicunknown
ss2159573042HUMAN_LONGEVITY|HLI-1-3789974-T-Cfwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt11/18/1611/18/16150Genomicunknown
ss2624271760SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV9046fwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt01/06/1701/06/17151Genomicunknown
ss2632468680ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs9424284-131_B_F_18950007fwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt02/02/1702/02/17151Genomicunknown
ss2697396411GRF|rs9424284fwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt02/13/1702/13/17151Genomicunknown
ss2750970142GNOMAD|rs9424284fwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt05/17/1705/17/17151Genomicunknown
ss2986201000SWEGEN|NC_000001.10:g.3706538T>Cfwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt05/30/1705/30/17151Genomicunknown
ss3023519630BIOINF_KMB_FNS_UNIBA|1.3789974T>Cfwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt07/05/1707/05/17151Genomicunknown
ss3343288830CSHL|rs9424284fwd/C/Taaggatgtgaggtgcacactggcttggggaggatgagttacacagggggt10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9424284|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CCAGGAGCAG CAGCAGAGGC GAAGGAGGCG GGCGGGGCCC CACCGGGGCG CCCAGAGCAG
 CCACAGCCAG TTCAGCCTGC AGCCTGCAGT GAGTCCCCGA AAGGATGATG GCGGGCACTC
 GGAGAAGGGT CTTCCTTCCA GGCAAAGACT GTCAGAGAAA GGGCATCTGA GCAGCTCAGG
 ACCTGCCTGG AGGCTCTGTG GGGAGTCAGG GGACAGGAAG GGAAGCGGGG GAAGGAGAGC
 AAGAGGGAGG GCAAGAGAGT CACCATCTGG GTGGGGCGCA AAGCCGCACA TGTTGGGGAG
 TCCTTGTCAG AAATGCAAGG CCCTGCTGAC GAGGTCGCAC GCTGGCCCCT CAGGCCAGCA
 CTGGGCACCC AGTGGCGGCC TCAGCAGGAA ATGAAGCCAG AGATTTCACA CATGAAGGGT
 GGATGAGGGT GGCGTCAGTT TTCACTTGTG TGAGGGAGCA AGCAGGCGCG CCCGCAAGGA
 TGTGAGGTGC ACACTGGCTT
 Y
 GGGGAGGATG AGTTACACAG GGGGTGGCTA GGGGTCCTCC TGACACCTGA TGGGATGAAA
 TGCCGTCACC TGTCACCCGG AGCTGACACT CTACTGCAGG AAACACAACC CTCGCAGTGG
 CTAAGCTGAC GGCAGCAACG TGGGTCCTGA CTCTGGCCTG GCATACCGGC TGCCTTCCGG
 GCCCATGGCT TTTGCAGGGG ACCTGCTGCC GGGGAAGGAT CCTAACTTCA TGGTGGTGAC
 AGGCTGACAT AAACCAACCC AATAAGGAGC GCCAGCCCCT GAGTGAGCCC CACTCCCTCC
 GGCAGCAACT GAGAAACTCG GAAGCTGGGG GAGAGCCTTT GGCTTCAGGA GGGTTCACAT
 TGAGGCTGAA CTCCCCTGTG CAGCTTGGCC TTGGGAGGGG AGTGGCCCAG GGCCTGAAAG
 GATGTCTTTA CTAAGGCACC GTCCTGCCCA CATCAGCTGT TCAGGTAACA TCTGTCCCAT
 CCATCCCTCA TTCCCACACG

  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
ss118453396YRI 2IG 1.00000000 0.500000000.50000000
ss1289450909EAS 1008AF 0.659699980.34029999
EUR 1006AF 0.570600030.42940000
AFR 1322AF 0.947799980.05220000
AMR 694AF 0.508600000.49139997
SAS 978AF 0.672800000.32720000
ss137763483ENSEMBL_Watson 2IG1.00000000 1.00000000
ss138971977ENSEMBL_Venter 2IG1.00000000 1.00000000
ss163004638YRISub-Saharan African 2IG1.00000000 1.00000000
ss163737583CEUEuropean 2IG1.00000000 1.00000000
ss218203192pilot_1_YRI_low_coverage_panel 118AF 0.966101710.03389831
ss230404074pilot_1_CEU_low_coverage_panel 120AF 0.541666690.45833334
ss238122972pilot_1_CHB+JPT_low_coverage_panel 120AF 0.658333360.34166667
ss41134670HapMap-CEUEuropean 114IG0.350877200.456140340.192982450.654721000.578947370.42105263
HapMap-HCBAsian 88IG0.545454560.409090910.045454550.583882000.750000000.25000000
HapMap-JPTAsian 86IG0.372093020.511627910.116279070.583882000.627906980.37209302
HapMap-YRISub-Saharan African 120IG0.949999990.05000000 1.000000000.975000020.02500000
ss97915442J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.420+/-0.1830000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN