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Reference SNP (refSNP) Cluster Report: rs45618543                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:127/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0010/118 (ExAC)
T=0.0028/14 (1000 Genomes)
T=0.0044/57 (GO-ESP)
T=0.0038/482 (TOPMED)
HGVS Names
  • CM000670.2:g.18400612G>C
  • CM000670.2:g.18400612G>T
  • NC_000008.10:g.18258122G>C
  • NC_000008.10:g.18258122G>T
  • NC_000008.11:g.18400612G>C
  • NC_000008.11:g.18400612G>T
  • NG_012246.1:g.14368G>C
  • NG_012246.1:g.14368G>T
  • NM_000015.2:c.609G>C
  • NM_000015.2:c.609G>T
  • NP_000006.2:p.Glu203Asp
  • XP_016868427.1:p.Glu203Asp
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 ss70456618 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs45618543 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
ss70456618EGP_SNPS|NAT2-010679fwd/BG/Tgcttgaacctcgaacaattgaagattttgatctatgaatacatacctgcagacgtctcca04/19/0704/19/07127Genomicunknown
ss342253613NHLBI-ESP|ESP2500-chr8-18258122byFreqfwd/BG/Tgcttgaacctcgaacaattgaagattttgatctatgaatacatacctgcagacgtctcca03/25/1109/05/14134Genomicunknown
ss410878056ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_18302402rev/TA/Ctggagacgtctgcaggtatgtattcatagatcaaaatcttcaattgttcgaggttcaagc06/07/1106/07/11135Genomicunknown
ss4602566271000GENOMES|20101123_snps_6423857_chr8_18258122fwd/G/Tgcttgaacctcgaacaattgaagattttgatctatgaatacatacctgcagacgtctcca07/20/1107/20/11135Genomicunknown
ss482066742ILLUMINA|HumanOmni2.5-4v1_D_kgp20061741-0_T_R_1834179372fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt01/30/1210/28/16137Genomicunknown
ss485580722ILLUMINA|HumanOmni2.5-4v1_B_SNP8-18302402-0_T_R_1639490392fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt01/30/1210/29/16137Genomicunknown
ss4909607271000GENOMES|20110521_exome_468525_chr8_18258122fwd/BG/Tgcttgaacctcgaacaattgaagattttgatctatgaatacatacctgcagacgtctcca02/10/1202/21/12137Genomicunknown
ss491410764EXOME_CHIP|nonsyn_126990_chr_8_18258122fwd/BG/Tgcttgaacctcgaacaattgaagattttgatctatgaatacatacctgcagacgtctcca03/05/1203/05/12137Genomicunknown
ss534486754ILLUMINA|HumanOmni5-4v1_B_kgp20061741-0_T_R_1834179372fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt06/22/1208/29/15146Genomicunknown
ss779114230ILLUMINA|HumanOmni25Exome-8v1_A_kgp20061741-0_T_R_1834179372fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt05/30/1307/10/15146Genomicunknown
ss780867828ILLUMINA|HumanOmni25Exome-8v1_A_exm685684-0_T_R_1922911170fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt05/30/1307/10/15146Genomicunknown
ss781638979ILLUMINA|HumanOmni2.5-4v1_H_kgp20061741-0_T_R_1834179372fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt05/30/1307/29/15146Genomicunknown
ss783552759ILLUMINA|HumanOmniExpressExome-8v1_A_exm685684-0_T_R_1922911170fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt05/31/1306/19/15146Genomicunknown
ss834578473ILLUMINA|HumanOmni2.5-8v1_A_kgp20061741-0_T_R_1834179372fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt09/18/1307/29/15146Genomicunknown
ss13288539141000GENOMES|PHASE3_V1_41164998fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt08/16/1408/16/14142Genomicunknown
ss1620100544EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18258122_22761474fwd/C/Gaacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt03/04/1503/04/15144Genomicunknown
ss1663094577EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18258122_22761474fwd/C/Gaacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt03/04/1503/04/15144Genomicunknown
ss1689107896EVA_EXAC|EVA_EXAC_4197317fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt03/04/1503/04/15144Genomicunknown
ss1689107897EVA_EXAC|EVA_EXAC_4197318fwd/C/Gaacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt03/04/1503/04/15144Genomicunknown
ss1946231115ILLUMINA|HumanCoreExome-12v1-0_C_exm685684-0_T_R_1922911170fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt10/29/1510/29/15147Genomicunknown
ss1959092410ILLUMINA|exm685684-0_T_R_1922911170fwd/BG/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt11/13/1511/13/15147Genomicunknown
ss2301164562HUMAN_LONGEVITY|HLI-8-18400612-G-C,Tfwd/C/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt11/18/1611/18/16150Genomicunknown
ss2470822159TOPMED|8_18258122_G/Tfwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt11/20/1611/20/16150Genomicunknown
ss2634717909ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-kgp20061741-0_T_R_2131fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt02/02/1702/02/17151Genomicunknown
ss2634717910ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_exm685684-0_T_R_1922911170fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt02/02/1702/02/17151Genomicunknown
ss2634717911ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp20061741-0_T_R_18341793fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt02/02/1702/02/17151Genomicunknown
ss2711131677ILLUMINA|Consortium-OncoArray_15047405_A_exm685684-0_T_R_1922911170fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt03/22/1703/22/17151Genomicunknown
ss2737016738GNOMAD|exomes_rs45618543fwd/C/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt05/17/1705/17/17151Genomicunknown
ss2748005953GNOMAD|coding_rs45618543fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt05/17/1705/17/17151Genomicunknown
ss2863932611GNOMAD|rs45618543fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt05/19/1705/19/17151Genomicunknown
ss2985432617AFFY|Axiom_PsorMich_Affx-31859129fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt05/24/1705/24/17151Genomicunknown
ss3022824459ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685684-0_T_R_1922911170fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt06/28/1706/28/17151Genomicunknown
ss3555514771TOPMED|TOPMed_freeze_5?chr8:18,400,612fwd/G/Taacctcgaacaattgaagattttgatctatgaatacatacctgcagacgt10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs45618543|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 TTACATTGTC GATGCTGGGT CTGGAAGCTC CTCCCAGATG TGGCAGCCTC TAGAATTAAT
 TTCTGGGAAG GATCAGCCTC AGGTGCCTTG CATTTTCTGC TTGACAGAAG AGAGAGGAAT
 CTGGTACCTG GACCAAATCA GGAGAGAGCA GTATATTACA AACAAAGAAT TTCTTAATTC
 TCATCTCCTG CCAAAGAAGA AACACCAAAA AATATACTTA TTTACGCTTG AACCTCGAAC
 AATTGAAGAT TTTGA
 B
 TCTATGAATA CATACCTGCA GACGTCTCCA ACATCTTCAT TTATAACCAC ATCATTTTGT
 TCCTTGCAGA CCCCAGAAGG GGTTTACTGT TTGGTGGGCT TCATCCTCAC CTATAGAAAA
 TTCAATTATA AAGACAATAC AGATCTGGTC GAGTTTAAAA CTCTCACTGA GGAAGAGGTT
 GAAGAAGTGC TGAAAAATAT ATTTAAGATT TCCTTGGGGA GAAATCTCGT GCCCAAACCT
 GGTGATGGAT CCCTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008
dbSNP Blast Analysis
3D structure mapping
NP_000006  

  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
HWPC
G
T
ss1328853914EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.990200040.00980000
AMR 694AF 0.998599950.00140000
SAS 978AF 1.00000000
ss1689107896ExAc_Aggregated_Populations121409AF 0.999011580.00098839
ss1689107897ExAc_Aggregated_Populations121290AF 0.000008240.99999177
ss342253613ESP_Cohort_Populations 4376GF0.987202940.01279708 1.00000000 0.993601440.00639854
ss70456618PDR90-PANEL 176AF 0.994318190.00568182

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.002+/-0.0310000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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