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Reference SNP (refSNP) Cluster Report: rs4986783                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0209/2538 (ExAC)
G=0.0170/85 (1000 Genomes)
G=0.0171/222 (GO-ESP)
G=0.0183/2296 (TOPMED)
HGVS Names
  • CM000670.2:g.18222687T>G
  • NC_000008.10:g.18080196T>G
  • NC_000008.11:g.18222687T>G
  • NG_012245.2:g.57226T>G
  • NM_000662.7:c.640T>G
  • NM_001160170.3:c.640T>G
  • NM_001160171.3:c.640T>G
  • NM_001160172.3:c.640T>G
  • NM_001160173.3:c.640T>G
  • NM_001160174.2:c.640T>G
  • NM_001160175.3:c.826T>G
  • NM_001160176.3:c.826T>G
  • NM_001160179.2:c.640T>G
  • NM_001291962.1:c.826T>G
  • NP_000653.3:p.Ser214Ala
  • NP_001153642.1:p.Ser214Ala
  • NP_001153643.1:p.Ser214Ala
  • NP_001153644.1:p.Ser214Ala
  • NP_001153645.1:p.Ser214Ala
  • NP_001153646.1:p.Ser214Ala
  • NP_001153647.1:p.Ser276Ala
  • NP_001153648.1:p.Ser276Ala
  • NP_001153651.1:p.Ser214Ala
  • NP_001278891.1:p.Ser276Ala
  • XP_005273734.1:p.Ser276Ala
  • XP_005273735.1:p.Ser214Ala
  • XP_005273736.1:p.Ser214Ala
  • XP_006716473.1:p.Ser214Ala
  • XP_011542989.1:p.Ser276Ala
  • XP_011542990.1:p.Ser276Ala
  • XP_011542991.1:p.Ser214Ala
  • XP_016869436.1:p.Ser276Ala
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 ss32478882 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4986783 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
ss6903885SNP500CANCER|NAT1-08byFreqfwd/BG/Ttctrtgaatayatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt02/14/0304/07/04113Genomicunknown
ss7986006HGBASE|SNP001494155fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt03/19/0310/10/03113Genomicunknown
ss24180120PERLEGEN|afd4427665fwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt08/10/0410/21/04123Genomicunknown
ss32478882EGP_SNPS|NAT1-055471byFreqfwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt01/06/0511/02/06125Genomicunknown
ss68378011CSHL-HAPMAP|sanger:assay:4250564:1byFreqfwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt01/11/0701/16/07127NAunknown
ss69042332PERLEGEN|PGP04427665byFreqfwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt01/30/0703/31/08127Genomicunknown
ss74813878AFFY|SNP_M-290243fwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt08/09/0708/09/07128Genomicunknown
ss74863566ILLUMINA|ILMN_Human_1M_rs4986783fwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt08/28/0708/29/07129Genomicunknown
ss84168366PHARMGKB_AB_DME|PS206058_PA147978233_301fwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt12/06/0712/09/07130Genomicunknown
ss160735741ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4986783-128_B_F_1513905677fwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt08/04/0910/04/09131Genomicunknown
ss173903377ILLUMINA|Human1M-Duov3_B_rs4986783-128_B_F_1513905677fwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt10/01/0910/04/09132Genomicunknown
ss244302393ILLUMINA|CVDSNP55v1_A_rs4986783fwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt06/10/1006/10/10132Genomicunknown
ss3347240111000GENOMES|20100804_snps_6367552_chr8_18080196fwd/G/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt03/22/1103/22/11134Genomicunknown
ss342253589NHLBI-ESP|ESP2500-chr8-18080196byFreqfwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt03/25/1109/05/14134Genomicunknown
ss481125795ILLUMINA|HumanOmni2.5-4v1_B_rs4986783-128_B_F_1649462976fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt01/30/1210/29/16137Genomicunknown
ss481147957ILLUMINA|HumanOmniExpress-12v1_C_rs4986783-131_B_F_1857739463fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt01/30/1210/27/16137Genomicunknown
ss482136896ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4986783-131_B_F_1857739463fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt01/30/1208/28/15146Genomicunknown
ss485357978ILLUMINA|HumanOmni2.5-4v1_D_rs4986783-131_B_F_1857739463fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt01/30/1210/28/16137Genomicunknown
ss4909607121000GENOMES|20110521_exome_468510_chr8_18080196fwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt02/10/1202/21/12137Genomicunknown
ss491410745EXOME_CHIP|nonsyn_126971_chr_8_18080196fwd/BG/Ttctatgaatacatacctgcagacatctccacatctgtgtttactagtaaatcattttgtt03/05/1203/05/12137Genomicunknown
ss491921831CLINSEQ_SNP|SNV-chr8-18124476byFreqfwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt03/06/1209/05/14137Genomicunknown
ss537302752ILLUMINA|HumanOmni5-4v1_B_rs4986783-131_B_F_1885842277fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt06/22/1208/29/15146Genomicunknown
ss655023161SSMP|8_18080196fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt12/14/1202/12/15138Genomicunknown
ss778555666ILLUMINA|HumanOmni25Exome-8v1_A_rs4986783-131_B_F_1857739463fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/30/1307/10/15142Genomicunknown
ss780867814ILLUMINA|HumanOmni25Exome-8v1_A_exm685639-0_T_R_1922927198fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/30/1307/10/15146Genomicunknown
ss783124698ILLUMINA|HumanOmni2.5-4v1_H_rs4986783-131_B_F_1857739463fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/30/1307/29/15142Genomicunknown
ss783552745ILLUMINA|HumanOmniExpressExome-8v1_A_exm685639-0_T_R_1922927198fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/31/1306/19/15146Genomicunknown
ss784081356ILLUMINA|HumanOmniExpressExome-8v1_A_rs4986783-131_B_F_1885842277fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/31/1306/19/15142Genomicunknown
ss832383521ILLUMINA|HumanOmniExpress-12v1_H_rs4986783-131_B_F_1857739463fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt09/17/1306/19/15144Genomicunknown
ss834012459ILLUMINA|HumanOmni2.5-8v1_A_rs4986783-131_B_F_1857739463fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt09/18/1307/29/15142Genomicunknown
ss985254181EVA-GONL|EVA-GONL_rs4986783fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt04/23/1404/25/14142Genomicunknown
ss1067495858JMKIDD_LAB|HGDP_exomes_chr8_18080196fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt07/09/1407/09/14142Genomicunknown
ss1075324501JMKIDD_LAB|HGDP_WGS_chr8_18080196fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt07/10/1407/11/14142Genomicunknown
ss13288471211000GENOMES|PHASE3_V1_41157960fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt08/16/1408/16/14142Genomicunknown
ss1397519348HAMMER_LAB|HAMMER_LAB_rs4986783fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt09/30/1409/30/14146Genomicunknown
ss1431435949DDI|DDI_rs4986783fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt11/04/1411/05/14144Genomicunknown
ss1584057284EVA_FINRISK|EVA_FINRISK_rs4986783fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt02/27/1502/27/15144Genomicunknown
ss1594843099EVA_DECODE|EVA_DECODE_8_18124476_221809_rs4986783fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt03/02/1503/03/15144Genomicunknown
ss1620096462EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18080196_22757068fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt03/04/1503/04/15144Genomicunknown
ss1663090495EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18080196_22757068fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt03/04/1503/04/15144Genomicunknown
ss1689107702EVA_EXAC|EVA_EXAC_4197110fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt03/04/1503/04/15144Genomicunknown
ss1711194379EVA_MGP|EVA_XIMO_310139fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt03/09/1503/09/15144Genomicunknown
ss1713019446EVA_SVP|EVA_SVP_713813fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt03/12/1503/12/15144Genomicunknown
ss1752722039ILLUMINA|OmniExpressExome-8v1-1_B_exm685639-0_T_R_1922927198fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/27/1506/09/15146Genomicunknown
ss1752722040ILLUMINA|OmniExpressExome-8v1-1_B_rs4986783-131_B_F_2087479460fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/27/1506/09/15146Genomicunknown
ss1917826195ILLUMINA|HumanExome-12v1-1_B_exm685639-0_T_R_1922927198fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt10/16/1510/16/15147Genomicunknown
ss1928543854WEILL_CORNELL_DGM|SNV:chr8:18080196fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt10/16/1510/17/15147Genomicunknown
ss1946231055ILLUMINA|HumanCoreExome-12v1-0_C_exm685639-0_T_R_1922927198fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt10/29/1510/29/15147Genomicunknown
ss1946231056ILLUMINA|HumanCoreExome-12v1-0_C_rs4986783-131_B_F_2087479460fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt10/29/1510/29/15147Genomicunknown
ss1959092253ILLUMINA|exm685639-0_T_R_1922927198fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt11/13/1511/13/15147Genomicunknown
ss1959092255ILLUMINA|rs4986783-131_B_F_1885842277fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt11/13/1511/13/15147Genomicunknown
ss2024970098JJLAB|SNP5472653fwd/BG/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt08/29/1608/30/16149Genomicunknown
ss2301150679HUMAN_LONGEVITY|HLI-8-18222687-T-Gfwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt11/18/1611/18/16150Genomicunknown
ss2470808529TOPMED|8_18080196_T/Gfwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt11/20/1611/20/16150Genomicunknown
ss2634717609ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs4986783-131_B_F_20874794fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt02/02/1702/02/17151Genomicunknown
ss2708952064GRF|rs4986783fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt02/13/1702/13/17151Genomicunknown
ss2711131560ILLUMINA|Consortium-OncoArray_15047405_A_rs4986783-131_B_F_2087479460fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt03/22/1703/22/17151Genomicunknown
ss2737016466GNOMAD|exomes_rs4986783fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/17/1705/17/17151Genomicunknown
ss2748005872GNOMAD|coding_rs4986783fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/17/1705/17/17151Genomicunknown
ss2863915047GNOMAD|rs4986783fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/19/1705/19/17151Genomicunknown
ss2985432574AFFY|Axiom_PsorMich_Affx-31855748fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/24/1705/24/17151Genomicunknown
ss2986074626AFFY|Axiom_Smokesc1_Affx-31855748fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/24/1705/24/17151Genomicunknown
ss3002777608SWEGEN|NC_000008.10:g.18080196T>Gfwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt05/30/1705/30/17151Genomicunknown
ss3022824294ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685639-0_T_R_1922927198fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt06/28/1706/28/17151Genomicunknown
ss3022824295ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs4986783-138_B_F_2269239395fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt06/28/1706/28/17151Genomicunknown
ss3555475157TOPMED|TOPMed_freeze_5?chr8:18,222,687fwd/G/Tgaatacatacctgcagacatctccacatctgtgtttactagtaaatcatt10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4986783|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 TACCAGATGT GGCAGCCTCT GGAGTTAATT TCTGGGAAGG ATCAGCCTCA GGTGCCTTGT
 GTCTTCCGTT TGACGGAAGA GAATGGATTC TGGTATCTAG ACCAAATCAG AAGGGAACAG
 TACATTCCAA ATGAAGAATT TCTTCATTCT GATCTCCTAG AAGACAGCAA ATACCGAAAA
 ATCTACTCCT TTACTCTTAA GCCTCGAACA ATTGAAGATT TTGAGTCTAT GAATACATAC
 CTGCAGACAT CTCCA
 K
 CATCTGTGTT TACTAGTAAA TCATTTTGTT CCTTGCAGAC CCCAGATGGG GTTCACTGTT
 TGGTGGGCTT CACCCTCACC CATAGGAGAT TCAATTATAA GGACAATACA GATCTAATAG
 AGTTCAAGAC TCTGAGTGAG GAAGAAATAG AAAAAGTGCT GAAAAATATA TTTAATATTT
 CCTTGCAGAG AAAGCTTGTG CCCAAACATG GTGATAGATT TTTTACTATT TAGAATAAGG
 AGTAAAACAA TCTTG

  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
ss1328847121EAS 1008AF 0.006000000.99400002
EUR 1006AF 0.024900000.97510004
AFR 1322AF 0.003000000.99700004
AMR 694AF 0.014400000.98559999
SAS 978AF 0.040900000.95910001
ss1689107702ExAc_Aggregated_Populations121412AF 0.020912270.97908771
ss24180120AFD_EUR_PANELEuropean 48IG 1.00000000 1.00000000
AFD_AFR_PANELAfrican American 44IG 1.00000000 1.00000000
AFD_CHN_PANELAsian 48IG 0.041666670.958333311.000000000.020833330.97916669
ss32478882PDR90Global 176IG 0.034090910.965909061.000000000.017045460.98295456
HapMap-CEUEuropean 226IG 0.070796460.929203511.000000000.035398230.96460176
HapMap-HCBAsian 84IG 1.00000000 1.00000000
HapMap-JPTAsian 168IG 0.023809520.976190451.000000000.011904760.98809522
HapMap-YRISub-Saharan African 226IG 0.008849560.991150441.000000000.004424780.99557525
HAPMAP-CHBAsian 82IG 0.024390240.975609781.000000000.012195120.98780489
HAPMAP-CHD 170IG 0.011764710.988235291.000000000.005882350.99411762
HAPMAP-GIH 174IG 0.149425280.850574731.000000000.074712640.92528737
HAPMAP-LWK 180IG 0.011111110.988888861.000000000.005555560.99444443
HAPMAP-MEX 96IG 0.020833330.979166691.000000000.010416670.98958331
HAPMAP-MKK 286IG 0.013986010.986014011.000000000.006993010.99300700
HAPMAP-TSI 174IG 0.080459770.919540231.000000000.040229890.95977014
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss342253589ESP_Cohort_Populations 4538GF0.000881450.028206260.970912280.050043000.014984580.98501545
ss491921831CSAgilent 1324GF0.001998000.049950060.948051930.250592000.026973030.97302699
ss6903885P1 202AF 0.020000000.980000021.000000000.010000000.98999995
CAUC1 62AF 0.065000010.935000001.000000000.032000000.96799999
AFR1 48AF 1.00000000 1.00000000
HISP1 46AF 1.00000000 1.00000000
PAC1 46AF 1.00000000 1.00000000
ss84168366PA147978234 356AF 0.002808990.99719101

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.041+/-0.1370000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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