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Reference SNP (refSNP) Cluster Report: rs4986991                 
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:C/G/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0015/176 (ExAC)
C=0.0040/20 (1000 Genomes)
C=0.0042/55 (GO-ESP)
C=0.0050/623 (TOPMED)
HGVS Names
  • CM000670.2:g.18222824T>C
  • CM000670.2:g.18222824T>G
  • NC_000008.10:g.18080333T>G
  • NC_000008.11:g.18222824T>C
  • NC_000008.11:g.18222824T>G
  • NG_012245.2:g.57363T>C
  • NG_012245.2:g.57363T>G
  • NM_000662.7:c.777T>C
  • NM_000662.7:c.777T>G
  • NM_001160170.3:c.777T>C
  • NM_001160170.3:c.777T>G
  • NM_001160171.3:c.777T>C
  • NM_001160171.3:c.777T>G
  • NM_001160172.3:c.777T>C
  • NM_001160172.3:c.777T>G
  • NM_001160173.3:c.777T>C
  • NM_001160173.3:c.777T>G
  • NM_001160174.2:c.777T>C
  • NM_001160174.2:c.777T>G
  • NM_001160175.3:c.963T>C
  • NM_001160175.3:c.963T>G
  • NM_001160176.3:c.963T>C
  • NM_001160176.3:c.963T>G
  • NM_001160179.2:c.777T>C
  • NM_001160179.2:c.777T>G
  • NM_001291962.1:c.963T>C
  • NM_001291962.1:c.963T>G
  • NP_000653.3:p.Ser259=
  • NP_000653.3:p.Ser259Arg
  • NP_001153642.1:p.Ser259=
  • NP_001153642.1:p.Ser259Arg
  • NP_001153643.1:p.Ser259=
  • NP_001153643.1:p.Ser259Arg
  • NP_001153644.1:p.Ser259=
  • NP_001153644.1:p.Ser259Arg
  • NP_001153645.1:p.Ser259=
  • NP_001153645.1:p.Ser259Arg
  • NP_001153646.1:p.Ser259=
  • NP_001153646.1:p.Ser259Arg
  • NP_001153647.1:p.Ser321=
  • NP_001153647.1:p.Ser321Arg
  • NP_001153648.1:p.Ser321=
  • NP_001153648.1:p.Ser321Arg
  • NP_001153651.1:p.Ser259=
  • NP_001153651.1:p.Ser259Arg
  • NP_001278891.1:p.Ser321=
  • NP_001278891.1:p.Ser321Arg
  • XP_005273734.1:p.Ser321Arg
  • XP_005273735.1:p.Ser259Arg
  • XP_005273736.1:p.Ser259Arg
  • XP_006716473.1:p.Ser259=
  • XP_006716473.1:p.Ser259Arg
  • XP_011542989.1:p.Ser321=
  • XP_011542989.1:p.Ser321Arg
  • XP_011542990.1:p.Ser321=
  • XP_011542990.1:p.Ser321Arg
  • XP_011542991.1:p.Ser259=
  • XP_011542991.1:p.Ser259Arg
  • XP_016869436.1:p.Ser321=
  • XP_016869436.1:p.Ser321Arg
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 ss342253592 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4986991 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
ss5586789SNP500CANCER|NAT1-15byFreqfwd/BC/Ttacagwtctaatagagttcaagactctgaggagraagaartagaaaaagtgctgaaaaat09/26/0204/07/04113Genomicunknown
ss84168388PHARMGKB_AB_DME|PS206058_PA147983612_301fwd/BC/Ttacagatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctgaaaaat12/06/0712/09/07130Genomicunknown
ss161103328ILLUMINA|HumanOmni1-Quad_v1-0_B_SNP8-18124613-0_B_F_1588076405fwd/BG/Ttacagatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctgaaaaat08/04/0910/05/09131Genomicunknown
ss2343448911000GENOMES|pilot_1_CEU_3949520_chr8_18124613fwd/G/Ttacagatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctgaaaaat05/01/1005/01/10132Genomicunknown
ss342253592NHLBI-ESP|ESP2500-chr8-18080333byFreqfwd/BC/Ttacagatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctgaaaaat03/25/1109/05/14134Genomicunknown
ss479282281ILLUMINA|HumanOmni1-Quad_v1-0_C_kgp2121747-0_B_F_1808946753fwd/BG/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga01/30/1208/28/15146Genomicunknown
ss4909607131000GENOMES|20110521_exome_468511_chr8_18080333fwd/BC/Ttacagatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctgaaaaat02/10/1202/21/12137Genomicunknown
ss491410747EXOME_CHIP|nonsyn_126973_chr_8_18080333fwd/BC/Ttacagatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctgaaaaat03/05/1203/05/12137Genomicunknown
ss560587249TISHKOFF|snp_chr8_18080333fwd/BC/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga11/22/1211/23/12138Genomicunknown
ss780785094ILLUMINA|HumanOmni25Exome-8v1_A_exm2168021-0_B_F_1927103217fwd/BC/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga05/30/1307/10/15142Genomicunknown
ss783465602ILLUMINA|HumanOmniExpressExome-8v1_A_exm2168021-0_B_F_1927103217fwd/BC/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga05/31/1306/19/15142Genomicunknown
ss985254184EVA-GONL|EVA-GONL_rs4986991fwd/BG/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga04/23/1404/25/14142Genomicunknown
ss13288471251000GENOMES|PHASE3_V1_41157964fwd/C/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga08/16/1408/16/14142Genomicunknown
ss1620096465EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18080333_22757072fwd/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga03/04/1503/04/15144Genomicunknown
ss1663090498EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18080333_22757072fwd/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga03/04/1503/04/15144Genomicunknown
ss1689107727EVA_EXAC|EVA_EXAC_4197139fwd/C/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga03/04/1503/04/15144Genomicunknown
ss1689107728EVA_EXAC|EVA_EXAC_4197140fwd/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga03/04/1503/04/15144Genomicunknown
ss1711194382EVA_MGP|EVA_XIMO_310142fwd/BG/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga03/09/1503/09/15144Genomicunknown
ss1752722042ILLUMINA|OmniExpressExome-8v1-1_B_exm2168021-0_B_F_1927103217fwd/BC/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga05/27/1506/09/15146Genomicunknown
ss1917826197ILLUMINA|HumanExome-12v1-1_B_exm2168021-0_B_F_1927103217fwd/BC/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga10/16/1510/16/15147Genomicunknown
ss1928543855WEILL_CORNELL_DGM|SNV:chr8:18080333fwd/BC/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga10/16/1510/17/15147Genomicunknown
ss1946231058ILLUMINA|HumanCoreExome-12v1-0_C_exm2168021-0_B_F_1927103217fwd/BC/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga10/29/1510/29/15147Genomicunknown
ss1959092258ILLUMINA|exm2168021-0_B_F_1927103217fwd/BC/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga11/13/1511/13/15147Genomicunknown
ss2024970099JJLAB|SNP5472654fwd/BG/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga08/29/1608/30/16149Genomicunknown
ss2301150688HUMAN_LONGEVITY|HLI-8-18222824-T-C,Gfwd/C/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga11/18/1611/18/16150Genomicunknown
ss2470808534TOPMED|8_18080333_T/Cfwd/C/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga11/20/1611/20/16150Genomicunknown
ss2470808535TOPMED|8_18080333_T/Gfwd/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga11/20/1611/20/16150Genomicunknown
ss2737016499GNOMAD|exomes_rs4986991fwd/C/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga05/17/1705/17/17151Genomicunknown
ss2748005881GNOMAD|coding_rs4986991fwd/C/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga05/17/1705/17/17151Genomicunknown
ss2863915056GNOMAD|rs4986991fwd/C/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga05/19/1705/19/17151Genomicunknown
ss2985432578AFFY|Axiom_PsorMich_Affx-31855752fwd/C/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga05/24/1705/24/17151Genomicunknown
ss2986074628AFFY|Axiom_Smokesc1_Affx-31855752fwd/C/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga05/24/1705/24/17151Genomicunknown
ss3002777612SWEGEN|NC_000008.10:g.18080333T>Gfwd/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga05/30/1705/30/17151Genomicunknown
ss3022824298ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm2168021-0_B_F_1927103217fwd/C/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga06/28/1706/28/17151Genomicunknown
ss3029637973CSIRBIOHTS|NM_000662.5:g.18080333T>Cfwd/C/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga07/28/1707/28/17151Genomicunknown
ss3555475178TOPMED|TOPMed_freeze_5?chr8:18,222,824-01fwd/C/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga10/06/1710/06/17151Genomicunknown
ss3555475179TOPMED|TOPMed_freeze_5?chr8:18,222,824-02fwd/G/Tatctaatagagttcaagactctgaggaggaagaaatagaaaaagtgctga10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4986991|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 TTCATTCTGA TCTCCTAGAA GACAGCAAAT ACCGAAAAAT CTACTCCTTT ACTCTTAAGC
 CTCGAACAAT TGAAGATTTT GAGTCTATGA ATACATACCT GCAGACATCT CCATCATCTG
 TGTTTACTAG TAAATCATTT TGTTCCTTGC AGACCCCAGA TGGGGTTCAC TGTTTGGTGG
 GCTTCACCCT CACCCATAGG AGATTCAATT ATAAGGACAA TACAGATCTA ATAGAGTTCA
 AGACTCTGAG
 B
 GAGGAAGAAA TAGAAAAAGT GCTGAAAAAT ATATTTAATA TTTCCTTGCA GAGAAAGCTT
 GTGCCCAAAC ATGGTGATAG ATTTTTTACT ATTTAGAATA AGGAGTAAAA CAATCTTGTC
 TATTTGTCAT CCAGCTCACC AGTTATCAAC TGACGACCTA TCATGTATCT TCTGTACCCT
 TACCTTATTT TGAAGAAAAT CCTAGACATC AAATCATTTC ACCTATAAAA ATGTCATCAT
 ATATAATTAA

  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.
SourceC/C
C/T
T/T
HWPC
G
T
ss1328847125EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.01440000 0.98560005
AMR 694AF 0.00140000 0.99859995
SAS 978AF 1.00000000
ss1689107727ExAc_Aggregated_Populations121364AF 0.00146666 0.99853331
ss1689107728ExAc_Aggregated_Populations121220AF 0.000280480.99971950
ss234344891pilot_1_CEU_low_coverage_panel 120AF 0.008333330.99166667
ss342253592ESP_Cohort_Populations 4164GF 0.010086460.989913521.000000000.00504323 0.99495679
ss5586789P1 204AF 0.010000000.990000011.000000000.00500000 0.99500000
CAUC1 62AF 1.00000000 1.00000000
AFR1 48AF 0.042000000.958000001.000000000.02100000 0.97900003
HISP1 46AF 1.00000000 1.00000000
PAC1 48AF 1.00000000 1.00000000
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss84168388PA147983613 354AF 0.00282486 0.99717516

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.003+/-0.0420000

  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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