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: rs1264813                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:87/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1254/628 (1000 Genomes)
T=0.0908/11404 (TOPMED)
HGVS Names
  • CM000668.2:g.29972123C>T
  • NC_000006.11:g.29939900C>T
  • NC_000006.12:g.29972123C>T
  • NG_015983.1:g.3723G>A
  • NT_113891.2:g.1451617C>T
  • NT_113891.3:g.1451511C>T
  • NT_167245.1:g.1233248C>T
  • NT_167245.2:g.1227663C>T
  • NT_167246.1:g.1238477C>T
  • NT_167246.2:g.1232857C>T
  • NT_167247.1:g.1321751C>T
  • NT_167247.2:g.1316166C>T
  • NT_167248.1:g.1232702C>T
  • NT_167248.2:g.1227106C>T
  • NT_167249.1:g.1269216C>T
  • NT_167249.2:g.1269918C>T
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 ss278712698 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1264813 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
ss1950432KWOK|OVLP-000925-236207fwd/TA/Ggcagagagcagggacctgtctgtccccactgatctggctgggggtaggggtgaggaatag10/06/0010/10/0387Genomic97 %
ss2432709SC_JCM|AC011858.3_107453fwd/TA/Ggcagagagcagggacctgtctgtccccactgatctggctgggggtaggggtgaggaatag11/03/0010/10/0392Genomicunknown
ss10285743BCM_SSAHASNP|chr6.NT_007592.13_20796009rev/BC/Tctattcctcacccctacccccagccagatcagtggggacagacaggtccctgctctctgc06/27/0310/10/03117Genomicunknown
ss12813356SC_SNP|NT_007592.13_20796009rev/BC/Tctattcctcacccctacccccagccagatcagtggggacagacaggtccctgctctctgc10/21/0311/17/03119Genomicunknown
ss22397803SSAHASNP|WGSA-200403-chr6.chr6.NT_007592.13_20796009rev/BC/Tctattcctcacccctacccccagccagatcagtggggacagacaggtccctgctctctgc03/21/0403/21/04121Genomicunknown
ss23135603FHCRC|G09_4356byFreqrev/BC/Tctattcctcacccctacccccagccagatcagtggggacagacaggtccctgctctctgc04/15/0404/28/04126Genomicunknown
ss42852446ABI|hCV8691726rev/BC/Tctattcctcacccctacccccagccagatcagtggggacagacaggtccctgctctctgc07/18/0507/18/05126Genomicunknown
ss1098782231000GENOMES|CEU.trio.12.15.2008_1481213_chr6_30047879rev/BC/Tctattcctcacccctgcccccagccagatcagtggggacagacaggtccctgctctctgc12/16/0812/16/08137Genomicunknown
ss156705506GMI|GMI_SNP_122853969rev/BC/Tctattcctcacccctgcccccagccagatcagtggggacagacaggtccctgctctctgc06/24/0906/25/09131Genomicunknown
ss2333855931000GENOMES|pilot_1_CEU_2990222_chr6_30047879rev/C/Tctattcctcacccctgcccccagccagatcagtggggacagacaggtccctgctctctgc05/01/1005/01/10137Genomicunknown
ss2404572261000GENOMES|pilot_1_CHB+JPT_2342303_chr6_30047879rev/C/Tctattcctcacccctgcccccagccagatcagtggggacagacaggtccctgctctctgc05/01/1005/01/10137Genomicunknown
ss278712698GMI|GMI_AK_SNP_3032937rev/C/Tctattcctcacccctgcccccagccagatcagtggggacagacaggtccctgctctctgc12/16/1012/16/10137Genomicunknown
ss285368494GMI|GMI_NA10851_SNP_1381267rev/C/Tctattcctcacccctgcccccagccagatcagtggggacagacaggtccctgctctctgc12/17/1012/17/10138Genomicunknown
ss559100091TISHKOFF|snp_chr6_29939900rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc11/22/1211/23/12138Genomicunknown
ss653016423SSMP|6_29939900rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc12/14/1202/11/15138Genomicunknown
ss982741675EVA-GONL|EVA-GONL_rs1264813rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc04/23/1404/24/14142Genomicunknown
ss1073490933JMKIDD_LAB|HGDP_WGS_chr6_29939900rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc07/10/1407/11/14142Genomicunknown
ss13195062111000GENOMES|PHASE3_V1_31435753rev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc08/16/1408/16/14142Genomicunknown
ss1581594638EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1264813rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc02/19/1502/20/15144Genomicunknown
ss1592289273EVA_DECODE|EVA_DECODE_6_30047879_253311_rs1264813rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc03/02/1503/03/15144Genomicunknown
ss1615247028EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_6_29939900_17433040rev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc03/04/1503/04/15144Genomicunknown
ss1658241061EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_6_29939900_17433040rev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc03/04/1503/04/15144Genomicunknown
ss1711118503EVA_MGP|EVA_XIMO_234263rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc03/09/1503/09/15144Genomicunknown
ss1925993856WEILL_CORNELL_DGM|SNV:chr6:29939900rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc10/16/1510/17/15147Genomicunknown
ss1958879798ILLUMINA|1kg_6_30047879-1_T_R_2304703433rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc11/13/1511/13/15147Genomicunknown
ss1970349470GENOMED|rs1264813rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc02/16/1602/16/16147Genomicunknown
ss2023624358JJLAB|SNP4126913rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc08/29/1608/30/16149Genomicunknown
ss2094950288ILLUMINA|Immuno_BeadChip_11419691_B_1kg_6_30047879-1_T_R_1767783473rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc09/27/1609/27/16150Genomicunknown
ss2095173441ILLUMINA|InfiniumImmunoArray-24v2-0_A_1kg_6_30047879-1_T_R_2310733398rev/BC/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc09/27/1609/27/16150Genomicunknown
ss2151789641USC_VALOUEV|NC_000006.11:g.29939900C>Trev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc11/17/1611/17/16151Genomicunknown
ss2282863050HUMAN_LONGEVITY|HLI-6-29972123-C-Trev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc11/18/1611/18/16150Genomicunknown
ss2451232023TOPMED|6_29939900_C/Trev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc11/20/1611/20/16150Genomicunknown
ss2626298391SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV2631083rev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc01/06/1701/06/17151Genomicunknown
ss2707381829GRF|rs1264813rev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc02/13/1702/13/17151Genomicunknown
ss2837297214GNOMAD|rs1264813rev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc05/18/1705/18/17151Genomicunknown
ss2998760666SWEGEN|NC_000006.11:g.29939900C>Trev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc05/30/1705/30/17151Genomicunknown
ss3022591670ILLUMINA|MEGA_Consortium_v2_15070954_A2_1kg_6_30047879-1_T_R_2304703433rev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc06/28/1706/28/17151Genomicunknown
ss3025597405BIOINF_KMB_FNS_UNIBA|6.29972123C>Trev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc07/05/1707/05/17151Genomicunknown
ss3493566901TOPMED|TOPMed_freeze_5?chr6:29,972,123rev/C/Tcctcacccctgcccccagccagatcagtggggacagacaggtccctgctc10/05/1710/05/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1264813|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CCTCCCAGTT TTCCTTGTAT CTGAAATCCT CATTCTTGTC CCTTTGCATA TGTACATTTC
 CTGCCTCCTC AGAAAGGTTG AGACAGCAGA CCTGTGTGTT AAACATCAAT GTGAAGTTAC
 TTCCAGGAAG AAGTTTCATC CGTGGTTTCT TGTTCCCCAG GGCCCCACAG TCTTCATTAC
 AACCTCACGG TGCTGTCCCG GGATGGATCT GTGCAGTCAG GGTTTCTTGC TGAGGGACAT
 CTGGATGGTC AGCCCTTCCT GCTCTTCAAC AGGCAGAAAG GCAGGGCTGG GTCCCGGGGA
 CAGTGGGCAG AAGCAGTTCT GGGAGCTGAG ACCTGGGACA CAGAGACTGA GGACTTGACA
 GAGAATGGGC AGGACCTCAG AAGGGCCCTG GCATATATCA AGGGACAGAA GGGAGGTGAG
 AGGTGGCAGC AGGCAAGAGT GATGGGAGAC CTTTTCCAGG AGAGCTGGGG GCAGAGAGCA
 GGGACCTGTC TGTCCCCACT
 R
 GATCTGGCTG GGGGCAGGGG TGAGGAATAG GGGTCAGCAG AGCTCGGTGG GGAGGTAACC
 TGGCACTCAG CCCACACAGA AAGGCATGGA GGAGGGCCAG GGAGGGGTCT CCTCTGGTCT
 GAGTTCCTCA CTTGGAACTG CTGGGTGGGG GTAGCCTTGC ATTCCCTCCA GGAGATTAGG
 GGTTGTGAGA TCAGGAAGCC AGCAGCACCA GGGGCTCTAG GCTTTCCTAC TCTTATGGGT
 AGCTCTTCCT CTCTCTCAAC CTGGAGACTC AGGAATGGAC AGTATCCCAG TCCTCCAGAA
 CTCAGACCTT TGCTATGAAC ATCACAAATT TCTAGAAGGA AGATGCTATG CCGGCCGAGA
 CACACTCTCA CCCTATATGG GTAGACTGCA GGCAGAAACT ACAGCAGTAT CTGGAATCCT
 GTGTGGGTGT CAGGAGAGCA GGTACTGGGC CTGGGTAGGG GCTTTCCTCT CCCCTATTCC
 ACTAGAGTCA CCCCGACCCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007592.13 AB023056 AC011858.3
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1264813 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1319506211EAS 1008AF 0.232100000.76789999
EUR 1006AF 0.124300000.87570000
AFR 1322AF 0.009800000.99020004
AMR 694AF 0.138300000.86169994
SAS 978AF 0.163600000.83640003
ss23135603POPU2 88IG0.068181820.022727270.909090940.001000000.079545450.92045456
ss233385593pilot_1_CEU_low_coverage_panel 120AF 0.116666670.88333333
ss240457226pilot_1_CHB+JPT_low_coverage_panel 120AF 0.266666680.73333335

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.219+/-0.2480000

  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