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Reference SNP (refSNP) Cluster Report: rs4986992                 
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:G/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0016/191 (ExAC)
G=0.0046/23 (1000 Genomes)
G=0.0048/62 (GO-ESP)
G=0.0053/663 (TOPMED)
HGVS Names
  • CM000670.2:g.18222068T>G
  • NC_000008.10:g.18079577T>G
  • NC_000008.11:g.18222068T>G
  • NG_012245.2:g.56607T>G
  • NM_000662.7:c.21T>G
  • NM_001160170.3:c.21T>G
  • NM_001160171.3:c.21T>G
  • NM_001160172.3:c.21T>G
  • NM_001160173.3:c.21T>G
  • NM_001160174.2:c.21T>G
  • NM_001160175.3:c.207T>G
  • NM_001160176.3:c.207T>G
  • NM_001160179.2:c.21T>G
  • NM_001291962.1:c.207T>G
  • NP_000653.3:p.Leu7=
  • NP_001153642.1:p.Leu7=
  • NP_001153643.1:p.Leu7=
  • NP_001153644.1:p.Leu7=
  • NP_001153645.1:p.Leu7=
  • NP_001153646.1:p.Leu7=
  • NP_001153647.1:p.Leu69=
  • NP_001153648.1:p.Leu69=
  • NP_001153651.1:p.Leu7=
  • NP_001278891.1:p.Leu69=
  • XP_005273734.1:p.Leu69=
  • XP_005273735.1:p.Leu7=
  • XP_005273736.1:p.Leu7=
  • XP_006716473.1:p.Leu7=
  • XP_011542989.1:p.Leu69=
  • XP_011542990.1:p.Leu69=
  • XP_011542991.1:p.Leu7=
  • XP_016869436.1:p.Leu69=
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 ss342253575 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4986992 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
ss5586790SNP500CANCER|NAT1-18byFreqfwd/BG/Tttaggggatcatggacattgaagcatatctgaaagaattggctataagaagtctaggaac09/26/0204/07/04113Genomicunknown
ss75260769ILLUMINA|ILMN_Human_1M_rs4986992fwd/BG/Tttaggggatcatggacattgaagcatatctgaaagaattggctataagaagtctaggaac08/28/0708/29/07129Genomicunknown
ss84168382PHARMGKB_AB_DME|PS206058_PA147983072_301fwd/BG/Tttaggggatcatggacattgaagcatatctgaaagaattggctataagaagtctaggaac12/06/0712/09/07130Genomicunknown
ss119497111KRIBB_YJKIM|KHS1659358fwd/BG/Tttaggggatcatggacattgaagcatatctgaaagaattggctataagaagtctaggaac02/04/0902/04/09131Genomicunknown
ss160735780ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4986992-113_T_R_1514219284rev/TA/Cgttcctagacttcttatagccaattctttcagatatgcttcaatgtccatgatcccctaa08/04/0910/04/09131Genomicunknown
ss173903475ILLUMINA|Human1M-Duov3_B_rs4986992-113_T_R_1514219284rev/TA/Cgttcctagacttcttatagccaattctttcagatatgcttcaatgtccatgatcccctaa10/01/0910/04/09132Genomicunknown
ss2235750491000GENOMES|pilot_1_YRI_5384732_chr8_18123857fwd/G/Tttaggggatcatggacattgaagcatatctgaaagaattggctataagaagtctaggaac04/22/1004/22/10132Genomicunknown
ss342253575NHLBI-ESP|ESP2500-chr8-18079577byFreqfwd/BG/Tttaggggatcatggacattgaagcatatctgaaagaattggctataagaagtctaggaac03/25/1109/05/14134Genomicunknown
ss481125925ILLUMINA|HumanOmni2.5-4v1_B_rs4986992-128_B_F_1735667550fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta01/30/1210/29/16137Genomicunknown
ss481148077ILLUMINA|HumanOmniExpress-12v1_C_rs4986992-131_B_F_1857991663fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta01/30/1210/27/16137Genomicunknown
ss482137014ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4986992-131_T_R_1865803229fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta01/30/1208/28/15146Genomicunknown
ss482177647ILLUMINA|HumanOmni2.5-4v1_D_kgp20609293-0_B_F_1837193412fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta01/30/1210/28/16137Genomicunknown
ss485358038ILLUMINA|HumanOmni2.5-4v1_D_rs4986992-131_B_F_1857991663fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta01/30/1210/28/16137Genomicunknown
ss485580347ILLUMINA|HumanOmni2.5-4v1_B_SNP8-18123857-0_B_F_1637094020fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta01/30/1210/29/16137Genomicunknown
ss4909607041000GENOMES|20110521_exome_468502_chr8_18079577fwd/BG/Tttaggggatcatggacattgaagcatatctgaaagaattggctataagaagtctaggaac02/10/1202/21/12137Genomicunknown
ss534532637ILLUMINA|HumanOmni5-4v1_B_kgp20609293-0_B_F_1837193412fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta06/22/1208/29/15146Genomicunknown
ss560587247TISHKOFF|snp_chr8_18079577fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta11/22/1211/23/12138Genomicunknown
ss779116980ILLUMINA|HumanOmni25Exome-8v1_A_kgp20609293-0_B_F_1837193412fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta05/30/1307/10/15142Genomicunknown
ss781674753ILLUMINA|HumanOmni2.5-4v1_H_kgp20609293-0_B_F_1837193412fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta05/30/1307/29/15142Genomicunknown
ss783124728ILLUMINA|HumanOmni2.5-4v1_H_rs4986992-131_B_F_1857991663fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta05/30/1307/29/15142Genomicunknown
ss832383551ILLUMINA|HumanOmniExpress-12v1_H_rs4986992-131_B_F_1857991663fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta09/17/1306/19/15144Genomicunknown
ss834581261ILLUMINA|HumanOmni2.5-8v1_A_kgp20609293-0_B_F_1837193412fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta09/18/1307/29/15142Genomicunknown
ss13288471031000GENOMES|PHASE3_V1_41157942fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta08/16/1408/16/14142Genomicunknown
ss1689107572EVA_EXAC|EVA_EXAC_4196976fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta03/04/1503/04/15144Genomicunknown
ss1752722032ILLUMINA|OmniExpressExome-8v1-1_B_rs4986992-131_B_F_1894977629fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta05/27/1506/09/15146Genomicunknown
ss1928543851WEILL_CORNELL_DGM|SNV:chr8:18079577fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta10/16/1510/17/15147Genomicunknown
ss1946231043ILLUMINA|HumanCoreExome-12v1-0_C_kgp20609293-0_B_F_1837193412fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta10/29/1510/29/15147Genomicunknown
ss1959092232ILLUMINA|kgp20609293-0_B_F_1837193412fwd/BG/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta11/13/1511/13/15147Genomicunknown
ss2301150643HUMAN_LONGEVITY|HLI-8-18222068-T-Gfwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta11/18/1611/18/16150Genomicunknown
ss2470808485TOPMED|8_18079577_T/Gfwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta11/20/1611/20/16150Genomicunknown
ss2634717591ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-kgp20609293-0_B_F_2131fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta02/02/1702/02/17151Genomicunknown
ss2634717592ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp20609293-0_B_F_18371934fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta02/02/1702/02/17151Genomicunknown
ss2634717593ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs4986992-131_B_F_18949776fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta02/02/1702/02/17151Genomicunknown
ss2711131549ILLUMINA|Consortium-OncoArray_15047405_A_kgp20609293-0_B_F_1837193412fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta03/22/1703/22/17151Genomicunknown
ss2737016297GNOMAD|exomes_rs4986992fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta05/17/1705/17/17151Genomicunknown
ss2748005824GNOMAD|coding_rs4986992fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta05/17/1705/17/17151Genomicunknown
ss2863914999GNOMAD|rs4986992fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta05/19/1705/19/17151Genomicunknown
ss2985432565AFFY|Axiom_PsorMich_Affx-31855732fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta05/24/1705/24/17151Genomicunknown
ss2986074619AFFY|Axiom_Smokesc1_Affx-31855732fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta05/24/1705/24/17151Genomicunknown
ss3022824279ILLUMINA|MEGA_Consortium_v2_15070954_A2_kgp20609293-0_B_F_1837193412fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta06/28/1706/28/17151Genomicunknown
ss3029637970CSIRBIOHTS|NM_000662.5:g.18079577T>Gfwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta07/28/1707/28/17151Genomicunknown
ss3555475030TOPMED|TOPMed_freeze_5?chr8:18,222,068fwd/G/Tggatcatggacattgaagcatatctgaaagaattggctataagaagtcta10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4986992|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 CTTCTCACAC TTGAAAGAAG ACATAATACA TTTCTCACAG GATTCTGGGA CTATTAACTG
 AACTTATGTG TGTAAAAGGA ATTCATACAA TGAAAGCACT AGAAATAATT ATTATACTTA
 TAACCATTGT ATTTTTACAT GTTTAAAATA TAGCCATAAT TAGCCTACTC AAATCCAAGT
 GTAAAAGTAA AATGATTTGC TTTCGTTTTG TTTTCCTTGC TTAGGGGATC ATGGACATTG
 AAGCATATCT
 K
 GAAAGAATTG GCTATAAGAA GTCTAGGAAC AAATTGGACT TGGAAACATT AACTGACATT
 CTTCAACACC AGATCCGAGC TGTTCCCTTT GAGAACCTTA ACATCCATTG TGGGGATGCC
 ATGGACTTAG GCTTAGAGGC CATTTTTGAT CAAGTTGTGA GAAGAAATCG GGGTGGATGG
 TGTCTCCAGG TCAATCATCT TCTGTACTGG GCTCTGACCA CTATTGGTTT TGAGACCACG
 ATGTTGGGAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030737.5
dbSNP Blast Analysis
UniGene Cluster ID
155956
3D structure mapping
NP_000653  NP_001153642  NP_001153643  NP_001153644  NP_001153645  NP_001153646  NP_001153647  NP_001153648  NP_001153651  

  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.
SourceG/G
G/T
T/T
HWPG
T
ss1328847103EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.016600000.98339999
AMR 694AF 0.001400000.99859995
SAS 978AF 1.00000000
ss1689107572ExAc_Aggregated_Populations121408AF 0.001573210.99842680
ss223575049pilot_1_YRI_low_coverage_panel 118AF 0.016949150.98305082
ss342253575ESP_Cohort_Populations 4548GF0.000439750.011433600.988126640.002501000.006156550.99384344
ss5586790P1 202AF 0.010000000.989999951.000000000.005000000.99500000
CAUC1 62AF 1.00000000 1.00000000
AFR1 46AF 0.043000000.956999961.000000000.022000000.97799999
HISP1 46AF 1.00000000 1.00000000
PAC1 48AF 1.00000000 1.00000000
HapMap-YRISub-Saharan African 226IG 0.017699110.982300881.000000000.008849560.99115044
HAPMAP-ASW 98IG 0.020408160.979591851.000000000.010204080.98979592
HAPMAP-LWK 180IG 0.033333340.966666641.000000000.016666670.98333335
HAPMAP-MKK 282IG 0.085106380.914893631.000000000.042553190.95744681
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss84168382PA147983073 358AF 0.002793300.99720669

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.003+/-0.0400000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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