NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs4986782                 
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/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0141/1714 (ExAC)
A=0.0056/28 (1000 Genomes)
A=0.0126/164 (GO-ESP)
A=0.0111/1400 (TOPMED)
HGVS Names
  • CM000670.2:g.18222607G>A
  • NC_000008.10:g.18080116G>A
  • NC_000008.11:g.18222607G>A
  • NG_012245.2:g.57146G>A
  • NM_000662.7:c.560G>A
  • NM_001160170.3:c.560G>A
  • NM_001160171.3:c.560G>A
  • NM_001160172.3:c.560G>A
  • NM_001160173.3:c.560G>A
  • NM_001160174.2:c.560G>A
  • NM_001160175.3:c.746G>A
  • NM_001160176.3:c.746G>A
  • NM_001160179.2:c.560G>A
  • NM_001291962.1:c.746G>A
  • NP_000653.3:p.Arg187Gln
  • NP_001153642.1:p.Arg187Gln
  • NP_001153643.1:p.Arg187Gln
  • NP_001153644.1:p.Arg187Gln
  • NP_001153645.1:p.Arg187Gln
  • NP_001153646.1:p.Arg187Gln
  • NP_001153647.1:p.Arg249Gln
  • NP_001153648.1:p.Arg249Gln
  • NP_001153651.1:p.Arg187Gln
  • NP_001278891.1:p.Arg249Gln
  • XP_005273734.1:p.Arg249Gln
  • XP_005273735.1:p.Arg187Gln
  • XP_005273736.1:p.Arg187Gln
  • XP_006716473.1:p.Arg187Gln
  • XP_011542989.1:p.Arg249Gln
  • XP_011542990.1:p.Arg249Gln
  • XP_011542991.1:p.Arg187Gln
  • XP_016869436.1:p.Arg249Gln
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 ss43200569 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4986782 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
ss7986005HGBASE|SNP001494154fwd/BA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag03/19/0310/10/03113Genomicunknown
ss22658194SSAHASNP|WGSA-200403-chr8.chr8.NT_030737.8_5891037fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg03/21/0403/21/04126Genomicunknown
ss43200569ABI|hCV1204334fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg07/18/0507/18/05126Genomicunknown
ss48424821APPLERA_GI|hCV1204334rev/BC/Tcgaggcttaagagtaaaggagtagatttttggtatttgctgtcttctaggagatcagaat09/28/0511/30/05126Genomicunknown
ss69042331PERLEGEN|PGP07987940byFreqfwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg01/30/0703/31/08127Genomicunknown
ss74821289AFFY|SNP_M-325510fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg08/09/0708/09/07128Genomicunknown
ss75234522ILLUMINA|ILMN_Human_1M_rs4986782fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg08/28/0708/29/07129Genomicunknown
ss98055083HUMANGENOME_JCVI|1103652261740fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg03/30/0803/31/08130Genomicunknown
ss134466897ENSEMBL|ENSSNP2782432fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg12/08/0810/15/09131Genomicunknown
ss160735740ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4986782-126_T_F_1514219279fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg08/04/0910/04/09131Genomicunknown
ss173903375ILLUMINA|Human1M-Duov3_B_rs4986782-126_T_F_1514219279fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg10/01/0910/04/09132Genomicunknown
ss294230612PJP|SNP_3736970_chr8_18124396fwd/A/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg01/21/1101/21/11134Genomicunknown
ss3347240091000GENOMES|20100804_snps_6367550_chr8_18080116fwd/A/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg03/22/1103/22/11134Genomicunknown
ss342253586NHLBI-ESP|ESP2500-chr8-18080116byFreqfwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg03/25/1109/05/14134Genomicunknown
ss482136893ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4986782-126_T_F_1782943323fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag01/30/1208/28/15146Genomicunknown
ss4909607101000GENOMES|20110521_exome_468508_chr8_18080116fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg02/10/1202/21/12137Genomicunknown
ss491410743EXOME_CHIP|nonsyn_126969_chr_8_18080116fwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg03/05/1203/05/12137Genomicunknown
ss491921830CLINSEQ_SNP|SNV-chr8-18124396byFreqfwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag03/06/1209/05/14137Genomicunknown
ss507879520GOLDSTEINLAB|8_18124396_Afwd/TA/Gattctgatctcctagaagacagcaaataccaaaaatctactcctttactcttaagcctcg04/06/1204/06/12137Genomicunknown
ss537302751ILLUMINA|HumanOmni5-4v1_B_rs4986782-126_T_F_1893176603fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag06/22/1208/29/15146Genomicunknown
ss780867813ILLUMINA|HumanOmni25Exome-8v1_A_exm685633-0_T_F_1922934799fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag05/30/1307/10/15146Genomicunknown
ss783552744ILLUMINA|HumanOmniExpressExome-8v1_A_exm685633-0_T_F_1922934799fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag05/31/1306/19/15146Genomicunknown
ss985254179EVA-GONL|EVA-GONL_rs4986782fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag04/23/1404/25/14142Genomicunknown
ss13288471191000GENOMES|PHASE3_V1_41157958fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag08/16/1408/16/14142Genomicunknown
ss1397519347HAMMER_LAB|HAMMER_LAB_rs4986782fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag09/30/1409/30/14146Genomicunknown
ss1584057282EVA_FINRISK|EVA_FINRISK_rs4986782fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag02/27/1502/27/15144Genomicunknown
ss1594843097EVA_DECODE|EVA_DECODE_8_18124396_221807_rs4986782fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag03/02/1503/03/15144Genomicunknown
ss1620096460EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18080116_22757066fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag03/04/1503/04/15144Genomicunknown
ss1663090493EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18080116_22757066fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag03/04/1503/04/15144Genomicunknown
ss1689107686EVA_EXAC|EVA_EXAC_4197094fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag03/04/1503/04/15144Genomicunknown
ss1711194378EVA_MGP|EVA_XIMO_310138fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag03/09/1503/09/15144Genomicunknown
ss1752722038ILLUMINA|OmniExpressExome-8v1-1_B_exm685633-0_T_F_1922934799fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag05/27/1506/09/15146Genomicunknown
ss1917826194ILLUMINA|HumanExome-12v1-1_B_exm685633-0_T_F_1922934799fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag10/16/1510/16/15147Genomicunknown
ss1946231054ILLUMINA|HumanCoreExome-12v1-0_C_exm685633-0_T_F_1922934799fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag10/29/1510/29/15147Genomicunknown
ss1959092252ILLUMINA|exm685633-0_T_F_1922934799fwd/TA/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag11/13/1511/13/15147Genomicunknown
ss2153191686USC_VALOUEV|NC_000008.10:g.18080116G>Afwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag11/17/1611/17/16150Genomicunknown
ss2301150672HUMAN_LONGEVITY|HLI-8-18222607-G-Afwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag11/18/1611/18/16150Genomicunknown
ss2470808524TOPMED|8_18080116_G/Afwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag11/20/1611/20/16150Genomicunknown
ss2634717608ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs4986782-126_T_F_18931766fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag02/02/1702/02/17151Genomicunknown
ss2635180425ILLUMINA|Cancer_BeadChip_11459870_A_rs4986782-126_T_F_1782943323fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag02/02/1702/02/17151Genomicunknown
ss2737016438GNOMAD|exomes_rs4986782fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag05/17/1705/17/17151Genomicunknown
ss2748005863GNOMAD|coding_rs4986782fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag05/17/1705/17/17151Genomicunknown
ss2863915038GNOMAD|rs4986782fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag05/19/1705/19/17151Genomicunknown
ss2985432571AFFY|Axiom_PsorMich_Affx-31855745fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag05/24/1705/24/17151Genomicunknown
ss2986074624AFFY|Axiom_Smokesc1_Affx-31855745fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag05/24/1705/24/17151Genomicunknown
ss3002777606SWEGEN|NC_000008.10:g.18080116G>Afwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag05/30/1705/30/17151Genomicunknown
ss3022824293ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685633-0_T_F_1922934799fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag06/28/1706/28/17151Genomicunknown
ss3348073218CSHL|rs4986782fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag10/02/1710/02/17151Genomicunknown
ss3555475139TOPMED|TOPMed_freeze_5?chr8:18,222,607fwd/A/Ggatctcctagaagacagcaaataccaaaaatctactcctttactcttaag10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4986782|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CGATGTTGGG AGGGTATGTT TACAGCACTC CAGCCAAAAA ATACAGCACT GGCATGATTC
 ACCTTCTCCT GCAGGTGACC ATTGATGGCA GGAACTACAT TGTCGATGCT GGGTTTGGAC
 GCTCATACCA GATGTGGCAG CCTCTGGAGT TAATTTCTGG GAAGGATCAG CCTCAGGTGC
 CTTGTGTCTT CCGTTTGACG GAAGAGAATG GATTCTGGTA TCTAGACCAA ATCAGAAGGG
 AACAGTACAT TCCAAATGAA GAATTTCTTC ATTCTGATCT CCTAGAAGAC AGCAAATACC
 R
 AAAAATCTAC TCCTTTACTC TTAAGCCTCG AACAATTGAA GATTTTGAGT CTATGAATAC
 ATACCTGCAG ACATCTCCAT CATCTGTGTT TACTAGTAAA TCATTTTGTT CCTTGCAGAC
 CCCAGATGGG GTTCACTGTT TGGTGGGCTT CACCCTCACC CATAGGAGAT TCAATTATAA
 GGACAATACA GATCTAATAG AGTTCAAGAC TCTGAGTGAG GAAGAAATAG AAAAAGTGCT
 GAAAAATATA TTTAATATTT CCTTGCAGAG AAAGCTTGTG CCCAAACATG GTGATAGATT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030737 ABBA01021574
dbSNP Blast Analysis
UniGene Cluster ID
195364
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.
SourceA/A
A/G
G/G
HWPA
G
ss1328847119EAS 1008AF 1.00000000
EUR 1006AF 0.019900000.98009998
AFR 1322AF 0.001500000.99849999
AMR 694AF 0.004300000.99570000
SAS 978AF 0.003100000.99690002
ss134466897ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss1689107686ExAc_Aggregated_Populations121410AF 0.014117450.98588252
ss342253586ESP_Cohort_Populations 4528GF 0.022526500.977473500.654721000.011263250.98873675
ss48424821AGI_ASP populationmultiple 78IG 0.025641030.974358981.000000000.012820510.98717946
ss491921830CSAgilent 1321GF 0.042000000.957999941.000000000.021000000.97899997
ss98055083J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.028+/-0.1150000

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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement