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Reference SNP (refSNP) Cluster Report: rs4987076                 ** With other allele **
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:A/C/G (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:A=0.0209/2536 (ExAC)
A=0.0170/85 (1000 Genomes)
A=0.0171/222 (GO-ESP)
A=0.0183/2296 (TOPMED)
HGVS Names
  • CM000670.2:g.18222492G>A
  • CM000670.2:g.18222492G>C
  • NC_000008.10:g.18080001G>A
  • NC_000008.10:g.18080001G>C
  • NC_000008.11:g.18222492G>A
  • NC_000008.11:g.18222492G>C
  • NG_012245.2:g.57031G>A
  • NG_012245.2:g.57031G>C
  • NM_000662.7:c.445G>A
  • NM_000662.7:c.445G>C
  • NM_001160170.3:c.445G>A
  • NM_001160170.3:c.445G>C
  • NM_001160171.3:c.445G>A
  • NM_001160171.3:c.445G>C
  • NM_001160172.3:c.445G>A
  • NM_001160172.3:c.445G>C
  • NM_001160173.3:c.445G>A
  • NM_001160173.3:c.445G>C
  • NM_001160174.2:c.445G>A
  • NM_001160174.2:c.445G>C
  • NM_001160175.3:c.631G>A
  • NM_001160175.3:c.631G>C
  • NM_001160176.3:c.631G>A
  • NM_001160176.3:c.631G>C
  • NM_001160179.2:c.445G>A
  • NM_001160179.2:c.445G>C
  • NM_001291962.1:c.631G>A
  • NM_001291962.1:c.631G>C
  • NP_000653.3:p.Val149Ile
  • NP_000653.3:p.Val149Leu
  • NP_001153642.1:p.Val149Ile
  • NP_001153642.1:p.Val149Leu
  • NP_001153643.1:p.Val149Ile
  • NP_001153643.1:p.Val149Leu
  • NP_001153644.1:p.Val149Ile
  • NP_001153644.1:p.Val149Leu
  • NP_001153645.1:p.Val149Ile
  • NP_001153645.1:p.Val149Leu
  • NP_001153646.1:p.Val149Ile
  • NP_001153646.1:p.Val149Leu
  • NP_001153647.1:p.Val211Ile
  • NP_001153647.1:p.Val211Leu
  • NP_001153648.1:p.Val211Ile
  • NP_001153648.1:p.Val211Leu
  • NP_001153651.1:p.Val149Ile
  • NP_001153651.1:p.Val149Leu
  • NP_001278891.1:p.Val211Ile
  • NP_001278891.1:p.Val211Leu
  • XP_005273734.1:p.Val211Ile
  • XP_005273734.1:p.Val211Leu
  • XP_005273735.1:p.Val149Ile
  • XP_005273735.1:p.Val149Leu
  • XP_005273736.1:p.Val149Ile
  • XP_005273736.1:p.Val149Leu
  • XP_006716473.1:p.Val149Ile
  • XP_006716473.1:p.Val149Leu
  • XP_011542989.1:p.Val211Ile
  • XP_011542989.1:p.Val211Leu
  • XP_011542990.1:p.Val211Ile
  • XP_011542990.1:p.Val211Leu
  • XP_011542991.1:p.Val149Ile
  • XP_011542991.1:p.Val149Leu
  • XP_016869436.1:p.Val211Ile
  • XP_016869436.1:p.Val211Leu
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 ss32478880 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4987076 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
ss5606338SNP500CANCER|NAT1-05byFreqfwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacrgaagagaatggattct12/04/0204/07/04113Genomicunknown
ss24180117PERLEGEN|afd4609973fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct08/10/0408/21/04123Genomicunknown
ss32478880EGP_SNPS|NAT1-055276byFreqfwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct01/06/0511/02/06125Genomicunknown
ss68384565CSHL-HAPMAP|sanger:assay:4249249:1byFreqfwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct01/11/0701/16/07127NAunknown
ss69042330PERLEGEN|PGP04609973byFreqfwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct01/30/0703/31/08127Genomicunknown
ss74815113AFFY|SNP_M-308526fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct08/09/0708/09/07128Genomicunknown
ss84168378PHARMGKB_AB_DME|PS206058_PA147980921_301fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct12/06/0712/09/07130Genomicunknown
ss160735795ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4987076-128_T_F_1561711379fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct08/04/0910/04/09131Genomicunknown
ss2343448891000GENOMES|pilot_1_CEU_3949518_chr8_18124281fwd/A/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct05/01/1005/01/10132Genomicunknown
ss275516215OMICIA|2010_April_001_039_NAT1_108345_0002fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct11/30/1011/30/10133Genomicunknown
ss295469778OMIM-CURATED-RECORDS|577fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct01/27/1101/27/11133Genomicunknown
ss342253582NHLBI-ESP|ESP2500-chr8-18080001byFreqfwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct03/25/1109/05/14134Genomicunknown
ss482137059ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4987076-131_T_F_1863313850fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg01/30/1208/28/15146Genomicunknown
ss483577511ILLUMINA|HumanOmni2.5-4v1_D_kgp5640024-0_T_F_1822523469fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg01/30/1210/28/16137Genomicunknown
ss485580349ILLUMINA|HumanOmni2.5-4v1_B_SNP8-18124281-0_T_F_1644232805fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg01/30/1210/29/16137Genomicunknown
ss4909607061000GENOMES|20110521_exome_468504_chr8_18080001fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct02/10/1202/21/12137Genomicunknown
ss491410740EXOME_CHIP|nonsyn_126966_chr_8_18080001fwd/TA/Gtctgggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatggattct03/05/1203/05/12137Genomicunknown
ss491921827CLINSEQ_SNP|SNV-chr8-18124281byFreqfwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg03/06/1209/05/14137Genomicunknown
ss535783336ILLUMINA|HumanOmni5-4v1_B_kgp5640024-0_T_F_1822523469fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg06/22/1208/29/15146Genomicunknown
ss655023159SSMP|8_18080001fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg12/14/1202/12/15138Genomicunknown
ss779510925ILLUMINA|HumanOmni25Exome-8v1_A_kgp5640024-0_T_F_1822523469fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/30/1307/10/15146Genomicunknown
ss780867810ILLUMINA|HumanOmni25Exome-8v1_A_exm685623-0_T_F_1922922471fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/30/1307/10/15146Genomicunknown
ss782232196ILLUMINA|HumanOmni2.5-4v1_H_kgp5640024-0_T_F_1822523469fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/30/1307/29/15146Genomicunknown
ss783552741ILLUMINA|HumanOmniExpressExome-8v1_A_exm685623-0_T_F_1922922471fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/31/1306/19/15146Genomicunknown
ss834981285ILLUMINA|HumanOmni2.5-8v1_A_kgp5640024-0_T_F_1822523469fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg09/18/1307/29/15146Genomicunknown
ss985254176EVA-GONL|EVA-GONL_rs4987076fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg04/23/1404/25/14142Genomicunknown
ss1067495855JMKIDD_LAB|HGDP_exomes_chr8_18080001fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg07/09/1407/09/14142Genomicunknown
ss1075324498JMKIDD_LAB|HGDP_WGS_chr8_18080001fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg07/10/1407/11/14142Genomicunknown
ss13288471111000GENOMES|PHASE3_V1_41157950fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg08/16/1408/16/14142Genomicunknown
ss1397519346HAMMER_LAB|HAMMER_LAB_rs4987076fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg09/30/1409/30/14146Genomicunknown
ss1431435947DDI|DDI_rs4987076fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg11/04/1411/05/14144Genomicunknown
ss1584057280EVA_FINRISK|EVA_FINRISK_rs4987076fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg02/27/1502/27/15144Genomicunknown
ss1594843094EVA_DECODE|EVA_DECODE_8_18124281_221804_rs4987076fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg03/02/1503/03/15144Genomicunknown
ss1620096454EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18080001_22757060fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg03/04/1503/04/15144Genomicunknown
ss1663090487EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18080001_22757060fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg03/04/1503/04/15144Genomicunknown
ss1689107659EVA_EXAC|EVA_EXAC_4197066fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg03/04/1503/04/15144Genomicunknown
ss1711194375EVA_MGP|EVA_XIMO_310135fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg03/09/1503/09/15144Genomicunknown
ss1928543852WEILL_CORNELL_DGM|SNV:chr8:18080001fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg10/16/1510/17/15147Genomicunknown
ss1946231048ILLUMINA|HumanCoreExome-12v1-0_C_exm685623-0_T_F_1922922471fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg10/29/1510/29/15147Genomicunknown
ss1959092244ILLUMINA|exm685623-0_T_F_1922922471fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg11/13/1511/13/15147Genomicunknown
ss2024970096JJLAB|SNP5472651fwd/TA/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg08/29/1608/30/16149Genomicunknown
ss2301150659HUMAN_LONGEVITY|HLI-8-18222492-G-Afwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg11/18/1611/18/16150Genomicunknown
ss2470808513TOPMED|8_18080001_G/Afwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg11/20/1611/20/16150Genomicunknown
ss2470808514TOPMED|8_18080001_G/Cfwd/C/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg11/20/1611/20/16150Genomicunknown
ss2634717598ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-kgp5640024-0_T_F_21311fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg02/02/1702/02/17151Genomicunknown
ss2634717599ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_exm685623-0_T_F_1922922471fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg02/02/1702/02/17151Genomicunknown
ss2634717600ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp5640024-0_T_F_182252346fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg02/02/1702/02/17151Genomicunknown
ss2634717601ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs4987076-131_T_F_21117821fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg02/02/1702/02/17151Genomicunknown
ss2708952062GRF|rs4987076fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg02/13/1702/13/17151Genomicunknown
ss2711131555ILLUMINA|Consortium-OncoArray_15047405_A_exm685623-0_T_F_1922922471fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg03/22/1703/22/17151Genomicunknown
ss2737016404GNOMAD|exomes_rs4987076fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/17/1705/17/17151Genomicunknown
ss2748005857GNOMAD|coding_rs4987076fwd/A/C/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/17/1705/17/17151Genomicunknown
ss2863915032GNOMAD|rs4987076fwd/A/C/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/19/1705/19/17151Genomicunknown
ss2985432567AFFY|Axiom_PsorMich_Affx-31855740fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/24/1705/24/17151Genomicunknown
ss2986074621AFFY|Axiom_Smokesc1_Affx-31855740fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/24/1705/24/17151Genomicunknown
ss3002777603SWEGEN|NC_000008.10:g.18080001G>Afwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg05/30/1705/30/17151Genomicunknown
ss3022824287ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685623-0_T_F_1922922471fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg06/28/1706/28/17151Genomicunknown
ss3555475114TOPMED|TOPMed_freeze_5?chr8:18,222,492-01fwd/A/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg10/06/1710/06/17151Genomicunknown
ss3555475115TOPMED|TOPMed_freeze_5?chr8:18,222,492-02fwd/C/Ggaaggatcagcctcaggtgccttgttcttccgtttgacggaagagaatgg10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4987076|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 CGGGGTGGAT GGTGTCTCCA GGTCAATCAT CTTCTGTACT GGGCTCTGAC CACTATTGGT
 TTTGAGACCA CGATGTTGGG AGGGTATGTT TACAGCACTC CAGCCAAAAA ATACAGCACT
 GGCATGATTC ACCTTCTCCT GCAGGTGACC ATTGATGGCA GGAACTACAT TGTCGATGCT
 GGGTTTGGAC GCTCATACCA GATGTGGCAG CCTCTGGAGT TAATTTCTGG GAAGGATCAG
 CCTCAGGTGC CTTGT
 V
 TCTTCCGTTT GACGGAAGAG AATGGATTCT GGTATCTAGA CCAAATCAGA AGGGAACAGT
 ACATTCCAAA TGAAGAATTT CTTCATTCTG ATCTCCTAGA AGACAGCAAA TACCGAAAAA
 TCTACTCCTT TACTCTTAAG CCTCGAACAA TTGAAGATTT TGAGTCTATG AATACATACC
 TGCAGACATC TCCATCATCT GTGTTTACTA GTAAATCATT TTGTTCCTTG CAGACCCCAG
 ATGGGGTTCA CTGTT

  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  
OMIM
108345.0002

  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
ss1328847111EAS 1008AF 0.006000000.99400002
EUR 1006AF 0.025800000.97420001
AFR 1322AF 0.003000000.99700004
AMR 694AF 0.013000000.98700005
SAS 978AF 0.040900000.95910001
ss1689107659ExAc_Aggregated_Populations121412AF 0.020887560.97911245
ss234344889pilot_1_CEU_low_coverage_panel 120AF 0.016666670.98333335
ss24180117AFD_EUR_PANELEuropean 48IG 1.00000000 1.00000000
AFD_AFR_PANELAfrican American 46IG 1.00000000 1.00000000
AFD_CHN_PANELAsian 48IG 0.041666670.958333311.000000000.020833330.97916669
ss32478880PDR90Global 176IG 0.034090910.965909061.000000000.017045460.98295456
HapMap-CEUEuropean 120IG 0.050000000.949999991.000000000.025000000.97500002
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 90IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG 0.016666670.983333351.000000000.008333330.99166667
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss342253582ESP_Cohort_Populations 4550GF0.000879120.028131870.970988990.050043000.014945060.98505497
ss491921827CSAgilent 1315GF0.002000000.050000000.948000010.250592000.027000000.97299999
ss5606338P1 204AF 0.020000000.980000021.000000000.010000000.99000001
CAUC1 62AF 0.065000010.935000001.000000000.032000000.96799999
AFR1 48AF 1.00000000 1.00000000
HISP1 46AF 1.00000000 1.00000000
PAC1 48AF 1.00000000 1.00000000
ss84168378PA147980922 360AF 0.002777780.99722224

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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