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Reference SNP (refSNP) Cluster Report: rs4986989                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0211/2370 (ExAC)
T=0.0168/84 (1000 Genomes)
T=0.0171/222 (GO-ESP)
T=0.0183/2296 (TOPMED)
HGVS Names
  • CM000670.2:g.18222008A>T
  • NC_000008.10:g.18079517A>T
  • NC_000008.11:g.18222008A>T
  • NG_012245.2:g.56547A>T
  • NM_000662.7:c.-6-34A>T
  • NM_001160170.3:c.-6-34A>T
  • NM_001160171.3:c.-6-34A>T
  • NM_001160172.3:c.-6-34A>T
  • NM_001160173.3:c.-6-34A>T
  • NM_001160174.2:c.-40A>T
  • NM_001160175.3:c.181-34A>T
  • NM_001160176.3:c.181-34A>T
  • NM_001160179.2:c.-6-34A>T
  • NM_001291962.1:c.181-34A>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 ss32478877 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4986989 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
ss5586787SNP500CANCER|NAT1-04byFreqfwd/TA/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct09/26/0204/07/04113Genomicunknown
ss24180113PERLEGEN|afd4427682fwd/TA/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct08/10/0408/21/04123Genomicunknown
ss32478877EGP_SNPS|NAT1-054792byFreqfwd/A/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct01/06/0511/02/06125Genomicunknown
ss75241723ILLUMINA|ILMN_Human_1M_rs4986989fwd/A/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct08/28/0708/29/07129Genomicunknown
ss84168348PHARMGKB_AB_DME|PS206058_PA147973958_301fwd/A/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct12/06/0712/09/07130Genomicunknown
ss119497109KRIBB_YJKIM|KHS1659356fwd/A/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct02/04/0902/04/09131Genomicunknown
ss154334568ILLUMINA|Human610_Quadv1_B_rs4986989-128_B_R_1514219282fwd/A/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct06/18/0906/20/09131Genomicunknown
ss159102047ILLUMINA|Human610_Quadv1_B_rs4986989rev/A/Tagcaaggaaaacaaaacgaaagcaaatcatttacttttacacttggatttgagtaggcta06/18/0907/06/09131Genomicunknown
ss159511091ILLUMINA|Human660W-Quad_v1_A_rs4986989-128_B_R_1514219282rev/A/Tagcaaggaaaacaaaacgaaagcaaatcatttacttttacacttggatttgagtaggcta07/06/0907/07/09131Genomicunknown
ss160735778ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4986989-128_B_R_1514219282rev/A/Tagcaaggaaaacaaaacgaaagcaaatcatttacttttacacttggatttgagtaggcta08/04/0910/04/09131Genomicunknown
ss173903471ILLUMINA|Human1M-Duov3_B_rs4986989-128_B_R_1514219282rev/A/Tagcaaggaaaacaaaacgaaagcaaatcatttacttttacacttggatttgagtaggcta10/01/0910/04/09132Genomicunknown
ss2343448881000GENOMES|pilot_1_CEU_3949517_chr8_18123797fwd/A/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct05/01/1005/01/10132Genomicunknown
ss481125917ILLUMINA|HumanOmni2.5-4v1_B_rs4986989-128_B_R_1612283185rev/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc01/30/1210/29/16137Genomicunknown
ss481148069ILLUMINA|HumanOmniExpress-12v1_C_rs4986989-131_B_R_1857739486rev/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc01/30/1210/27/16137Genomicunknown
ss482137008ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4986989-131_B_R_1865497852fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc01/30/1208/28/15146Genomicunknown
ss485358034ILLUMINA|HumanOmni2.5-4v1_D_rs4986989-131_B_R_1857739486rev/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc01/30/1210/28/16137Genomicunknown
ss4909607011000GENOMES|20110521_exome_468499_chr8_18079517fwd/A/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct02/10/1202/21/12137Genomicunknown
ss491921823CLINSEQ_SNP|SNV-chr8-18123797byFreqfwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc03/06/1209/05/14137Genomicunknown
ss537302783ILLUMINA|HumanOmni5-4v1_B_rs4986989-131_B_R_1893176606fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc06/22/1208/29/15146Genomicunknown
ss655023155SSMP|8_18079517fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc12/14/1202/12/15138Genomicunknown
ss712827944NHLBI-ESP|ESP6500SI-chr8-18079517fwd/A/Ttagcctactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttccttgct02/20/1302/20/13138Genomicunknown
ss778342571ILLUMINA|HumanOmni25Exome-8v1_A_rs4986989-131_B_R_1865497852fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/30/1307/10/15142Genomicunknown
ss783124726ILLUMINA|HumanOmni2.5-4v1_H_rs4986989-131_B_R_1857739486fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/30/1307/29/15142Genomicunknown
ss784081379ILLUMINA|HumanOmniExpressExome-8v1_A_rs4986989-131_B_R_1893176606fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/31/1306/19/15142Genomicunknown
ss832383549ILLUMINA|HumanOmniExpress-12v1_H_rs4986989-131_B_R_1857739486fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc09/17/1306/19/15144Genomicunknown
ss833022402ILLUMINA|Human660W-Quad_v1_C_rs4986989-131_B_R_1857739486fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc09/18/1307/02/15142Genomicunknown
ss833613230ILLUMINA|Human660W-Quad_v1_H_rs4986989-131_B_R_1857739486fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc09/18/1307/02/15142Genomicunknown
ss833797188ILLUMINA|HumanOmni2.5-8v1_A_rs4986989-131_B_R_1865497852fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc09/18/1307/29/15142Genomicunknown
ss985254174EVA-GONL|EVA-GONL_rs4986989fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc04/23/1404/25/14142Genomicunknown
ss1067495853JMKIDD_LAB|HGDP_exomes_chr8_18079517fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc07/09/1407/09/14142Genomicunknown
ss1075324496JMKIDD_LAB|HGDP_WGS_chr8_18079517fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc07/10/1407/11/14142Genomicunknown
ss13288470991000GENOMES|PHASE3_V1_41157938fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc08/16/1408/16/14142Genomicunknown
ss1431435946DDI|DDI_rs4986989fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc11/04/1411/05/14144Genomicunknown
ss1584057279EVA_FINRISK|EVA_FINRISK_rs4986989fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc02/27/1502/27/15144Genomicunknown
ss1594843090EVA_DECODE|EVA_DECODE_8_18123797_221800_rs4986989fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc03/02/1503/03/15144Genomicunknown
ss1620096449EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18079517_22757055fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc03/04/1503/04/15144Genomicunknown
ss1663090482EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18079517_22757055fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc03/04/1503/04/15144Genomicunknown
ss1689107557EVA_EXAC|EVA_EXAC_4196961fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc03/04/1503/04/15144Genomicunknown
ss1711194372EVA_MGP|EVA_XIMO_310132fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc03/09/1503/09/15144Genomicunknown
ss1713019443EVA_SVP|EVA_SVP_713810fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc03/12/1503/12/15144Genomicunknown
ss1752722030ILLUMINA|OmniExpressExome-8v1-1_B_rs4986989-131_B_R_1893176606fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/27/1506/09/15146Genomicunknown
ss1928543849WEILL_CORNELL_DGM|SNV:chr8:18079517fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc10/16/1510/17/15147Genomicunknown
ss1946231041ILLUMINA|HumanCoreExome-12v1-0_C_rs4986989-131_B_R_1893176606fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc10/29/1510/29/15147Genomicunknown
ss1959092228ILLUMINA|rs4986989-131_B_R_1893176606fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc11/13/1511/13/15147Genomicunknown
ss2024970094JJLAB|SNP5472649fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc08/29/1608/30/16149Genomicunknown
ss2301150638HUMAN_LONGEVITY|HLI-8-18222008-A-Tfwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc11/18/1611/18/16150Genomicunknown
ss2470808480TOPMED|8_18079517_A/Tfwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc11/20/1611/20/16150Genomicunknown
ss2634717588ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs4986989-131_B_R_18931766fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc02/02/1702/02/17151Genomicunknown
ss2708952061GRF|rs4986989fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc02/13/1702/13/17151Genomicunknown
ss2711131547ILLUMINA|Consortium-OncoArray_15047405_A_rs4986989-131_B_R_1893176606fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc03/22/1703/22/17151Genomicunknown
ss2737016280GNOMAD|exomes_rs4986989fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/17/1705/17/17151Genomicunknown
ss2748005818GNOMAD|coding_rs4986989fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/17/1705/17/17151Genomicunknown
ss2863914993GNOMAD|rs4986989fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/19/1705/19/17151Genomicunknown
ss2985432564AFFY|Axiom_PsorMich_Affx-31855730fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/24/1705/24/17151Genomicunknown
ss2986074618AFFY|Axiom_Smokesc1_Affx-31855730fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/24/1705/24/17151Genomicunknown
ss3002777599SWEGEN|NC_000008.10:g.18079517A>Tfwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc05/30/1705/30/17151Genomicunknown
ss3022824277ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs4986989-138_B_R_2269239421fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc06/28/1706/28/17151Genomicunknown
ss3555475016TOPMED|TOPMed_freeze_5?chr8:18,222,008fwd/A/Ttactcaaatccaagtgtaaaagtaaatgatttgctttcgttttgttttcc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4986989|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=151
 AATCACCAAG AGAACCATGA ACAAGCTGTT TATCATTTGA CTCATCATTT AATCTTGATT
 TCCAGCTTCT CACACTTGAA AGAAGACATA ATACATTTCT CACAGGATTC TGGGACTATT
 AACTGAACTT ATGTGTGTAA AAGGAATTCA TACAATGAAA GCACTAGAAA TAATTATTAT
 ACTTATAACC ATTGTATTTT TACATGTTTA AAATATAGCC ATAATTAGCC TACTCAAATC
 CAAGTGTAAA AGTAA
 W
 ATGATTTGCT TTCGTTTTGT TTTCCTTGCT TAGGGGATCA TGGACATTGA AGCATATCTT
 GAAAGAATTG GCTATAAGAA GTCTAGGAAC AAATTGGACT TGGAAACATT AACTGACATT
 CTTCAACACC AGATCCGAGC TGTTCCCTTT GAGAACCTTA ACATCCATTG TGGGGATGCC
 ATGGACTTAG GCTTAGAGGC CATTTTTGAT CAAGTTGTGA GAAGAAATCG GGGTGGATGG
 TGTCTCCAGG TCAAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030737.5
dbSNP Blast Analysis
UniGene Cluster ID
155956

  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/A
A/T
T/T
HWPA
T
ss1328847099EAS 1008AF 0.994000020.00600000
EUR 1006AF 0.975100040.02490000
AFR 1322AF 0.997000040.00300000
AMR 694AF 0.987000050.01300000
SAS 978AF 0.959100010.04090000
ss1689107557ExAc_Aggregated_Populations121358AF 0.979482170.02051781
ss234344888pilot_1_CEU_low_coverage_panel 120AF 0.966666640.03333334
ss24180113AFD_EUR_PANELEuropean 48IG1.00000000 1.00000000
AFD_AFR_PANELAfrican American 46IG1.00000000 1.00000000
AFD_CHN_PANELAsian 48IG0.958333310.04166667 1.000000000.979166690.02083333
ss32478877PDR90Global 178IG0.966292140.03370786 1.000000000.983146070.01685393
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss491921823CSAgilent 1322GF0.948051930.049950050.001998000.250592000.973026990.02697303
ss5586787P1 204AF0.980000020.02000000 1.000000000.990000010.01000000
CAUC1 62AF0.935000000.06500001 1.000000000.967999990.03200000
AFR1 48AF1.00000000 1.00000000
HISP1 46AF1.00000000 1.00000000
PAC1 48AF1.00000000 1.00000000
ss84168348PA147973959 348AF 0.997126460.00287356

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.041+/-0.1380000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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