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Reference SNP (refSNP) Cluster Report: rs11012167                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0313/157 (1000 Genomes)
T=0.0377/4738 (TOPMED)
HGVS Names
  • CM000672.2:g.20573472C>G
  • CM000672.2:g.20573472C>T
  • NC_000010.10:g.20862401C>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 ss15569072 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11012167 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
ss15569072SC_SNP|NT_008705.15_2837726fwd/BC/Tgaaattaatactgataatatatggtagcatttgagatgcccagcaaacctgctaatattg11/17/0311/22/03120Genomicunknown
ss18663396SC_SNP|SC-CHR9-12_NA17119-200402.chr10.NT_008705.15_2837726fwd/BC/Tgaaattaatactgataatatatggtagcatttgagatgcccagcaaacctgctaatattg02/20/0403/04/04120Genomicunknown
ss69359207RSG_JCVI|2LINE1-019591_019592-C_TbyFreqfwd/BC/Tgaaattaatactgataatatatggtagcatttgagatgcccagcaaacctgctaatattg03/21/0703/31/08127Genomicunknown
ss2109207271000GENOMES|YRI.trio.3.2010_933185_chr10_20902407fwd/BC/Tgaaattaatactgataatatatggtagcatttgagatgcccagcaaacctgctaatattg03/29/1003/29/10132Genomicunknown
ss2246120811000GENOMES|pilot_1_YRI_6421764_chr10_20902407fwd/C/Tgaaattaatactgataatatatggtagcatttgagatgcccagcaaacctgctaatattg04/22/1004/22/10132Genomicunknown
ss2350902381000GENOMES|pilot_1_CEU_4694867_chr10_20902407fwd/C/Tgaaattaatactgataatatatggtagcatttgagatgcccagcaaacctgctaatattg05/01/1005/01/10132Genomicunknown
ss561824799TISHKOFF|snp_chr10_20862401fwd/BC/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa11/22/1211/23/12138Genomicunknown
ss987277943EVA-GONL|EVA-GONL_rs11012167fwd/BC/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa04/23/1404/25/14142Genomicunknown
ss1076827897JMKIDD_LAB|HGDP_WGS_chr10_20862401fwd/BC/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa07/10/1407/11/14142Genomicunknown
ss13365906331000GENOMES|PHASE3_V1_49208294fwd/C/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa08/16/1408/16/14142Genomicunknown
ss1397576194HAMMER_LAB|HAMMER_LAB_rs11012167fwd/BC/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa09/30/1409/30/14146Genomicunknown
ss1596934506EVA_DECODE|EVA_DECODE_10_20902407_190485_rs11012167fwd/BC/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa03/02/1503/03/15144Genomicunknown
ss1624154291EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_20862401_27198799fwd/C/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa03/04/1503/04/15144Genomicunknown
ss1667148324EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_20862401_27198799fwd/C/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa03/04/1503/04/15144Genomicunknown
ss1806294563HAMMER_LAB|Hsieh_5312238fwd/BC/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa07/15/1507/16/15146Genomicunknown
ss1930607546WEILL_CORNELL_DGM|SNV:chr10:20862401fwd/BC/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa10/16/1510/17/15147Genomicunknown
ss2026031482JJLAB|SNP6534037fwd/BC/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa08/29/1608/30/16149Genomicunknown
ss2154275963USC_VALOUEV|NC_000010.10:g.20862401C>Tfwd/C/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa11/17/1611/17/16150Genomicunknown
ss2173294750HUMAN_LONGEVITY|HLI-10-20573472-C-Tfwd/C/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa11/18/1611/18/16150Genomicunknown
ss2336018406TOPMED|10_20862401_C/Tfwd/C/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa11/19/1611/19/16150Genomicunknown
ss2886378780GNOMAD|rs11012167fwd/C/G/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa05/19/1705/19/17151Genomicunknown
ss3006068840SWEGEN|NC_000010.10:g.20862401C>Tfwd/C/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa05/30/1705/30/17151Genomicunknown
ss3113577033TOPMED|TOPMed_freeze_5?chr10:20,573,472-01fwd/C/Gtaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa09/29/1709/29/17151Genomicunknown
ss3113577034TOPMED|TOPMed_freeze_5?chr10:20,573,472-02fwd/C/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa09/29/1709/29/17151Genomicunknown
ss3349003316CSHL|rs11012167fwd/C/Ttaatactgataatatatggtagcatttgagatgcccagcaaacctgctaa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11012167|allelePos=2000|totalLen=2200|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 CTTCAAACTA TACTACAAGG CTACAGTAAC CAAAACAGCA TGGTACTGGT ACCAAAACAG
 AGATATAGAT CAATGGAACA GAGCAGAGCC CTCAGAAATA ACGCCACATA TCTACAACTA
 TCTGATCTTT GACAAACCTG AGAAAAACAA GCAATGGGGA AAGGATTCCC TATTTAATAA
 ATGGTGCTGG GAAAACTGGC TAGCCATATG TAGAAAGCTG AAACTGGATC CCTTCCTTAC
 ACCTTATACA AAAATCAATT CAAGATGGAT TAAAGACTTA AACGTTAGAC CTAAAACCAT
 AAAAACCCTA GAAGAAAACC TAGGCATTAC CATTCAGGAC ATAGGCATGG GCAAGGACTT
 CATGTCCAAA ATACCAAAAG CAATGGCAAT AAAAGACAAA ATTGACAAAT GGGATCTAAT
 TAAACTAAAG AGCTTCTGCA CAGCAAAAGA AACTACCATC AGAGTGAACA GGCGACCTAC
 CTAATGGGAG AAAATTTTCG CAACCTACTC ATCTGAGAAA GGGCTAATAT CCAGAATCTA
 CAATGAACTC AAACAAATTT ACAAGAAAAA AAACAAACAA CCCCATCAAA AAGTGGGTGA
 AGGACATGAA CAGACACTTC TCAAAAGAAG ACATTTATGC AGCCAAAAAC ACATGAAAAA
 ATGCTCATCA TCACTGGCCA TCAGAGAAAT GCAAATCAAA ACCACAATGA GATACCATCT
 CACATCAGTT AGAATGGCAA TCATTAAAAA GTCAGGAAAC AACAGGTGCT GGAGAGGATG
 TGGAGAAATA GGAACACTTT TACACTGTTG GTGGGACTGT AAGCTAGTTC AACCCTTGTG
 GAAGTCAGTG TGGCGATTCC TCAGGGATCT AGAACTAGAA ATACCATTTG ACCCAGCCAT
 CCCATTACTG GGTATATACC CAAAGGACTA TAAATCATGC TGCTATAAAG ACACATGCAC
 ACGTATGTTT ATTGTGGCAT TATTCACAAT AGCAAAGACT TGGAACCAAG CCAAATGTCC
 AACAATGATA GACTGGATTA AGAAAATGTG GCACATATAC ACCATGGAAT ACTATGCAGC
 CATAAAAAAT GATGAGTCCA TGTCCTTTGT AGGGACATGG ATGAAATTGG AAATCATCAT
 TCTCAGTAAA CTGTCACAAG AACAAAAAAC CAAACACCGC ATATTCTCAC TCATAGGTGG
 GAACTGAGCA ATGAGATCAC ATGGACACAG GAAGGGGAAT ATCACACTCT GGGGACTGTG
 GTGGGGTGGG GGGAGGGGGG AGGGATAGCA TTGGGAGATA TACCTAATGC TAGATGACGA
 GTTAGTGGGT GCAGCGCACC AGCATGGCAC ATGTATACAT ATGTAACTAA CCTGCACAAT
 GTGCACATGT ACCCTAAAAC TTAAAGTACA ATAAAAAAAA AAACCCTAAC AGAAAACCCT
 TTCATTAAAA AGTGCTGTTG GTAGTACAAT GTGGTAGGCA GAATAGCCCC CCAAAATTGT
 GTCCTAATCC TTGAAATCTC TAAATAGGTG ACATGACAAA GAAGAATTTA AGTTGCAGTG
 GGGTTGAGGT TGCTCACTGG CTGACACTGA GTTGAGGGGA TTATTCTGGT CCAATACAGT
 CACAAGGGTA CTTGTAAATA GAAGAGGACG GTGGATGAGT TGGAGTCAGA GGGAGATTTG
 AGGATGCCAC GTGGCTGGCT CTGAAGTTGC AGGAAAGGGC CATATGCCAA GGGATGCAGA
 TTTCTTCTAA AAGGTGGGAA AGGCAAGGAA AGATTCTCTT CTAGAGCCTC CATAAGGAAC
 ACAATCCTGC TGACAACTTG ACTTTAGCTC ATTGGGACCT AATCGAAAAC TATAAAATAG
 TTTAAATATA AAATATAGGA TAGTTTTAAA TAAGACACTT TTCAATTGGT TCTCAATGAG
 CTAAAATCAA GCCCAGTAAG TTTGTGGTAA TTTGTTACAA CAGCAATCAG AAATTAATAC
 TGATAATATA TGGTAGCAT
 B
 TTGAGATGCC CAGCAAACCT GCTAATATTG TTCATTCAAA CCTTTTCTTC CATCTTCAGC
 AGTCATATTC TGAGTTCCTG CTATGAGCCA GGCAGGGTTA CAAAGAGGAC AGAAAACATT
 GTCCCTGTCT CCCAGGAAGT TTACAGTCTC ACATGGAAAA CAAACTCATA AACACATAGA
 TACAACCATG TGAAATAACT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008705
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1336590633EAS 1008AF 1.00000000
EUR 1006AF 0.969200020.03080000
AFR 1322AF 0.924399970.07560000
AMR 694AF 0.976900040.02310000
SAS 978AF 0.989800040.01020000
ss224612081pilot_1_YRI_low_coverage_panel 118AF 0.906779650.09322034
ss235090238pilot_1_CEU_low_coverage_panel 120AF 0.958333310.04166667
ss69359207R12_ISDP2 38AF 0.815789460.18421052

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.061+/-0.1630000

  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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