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Reference SNP (refSNP) Cluster Report: rs1794265                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0230/2888 (TOPMED)
HGVS Names
  • CM000668.2:g.32706960C>A
  • CM000668.2:g.32706960C>G
  • CM000668.2:g.32706960C>T
  • NC_000006.11:g.32674737C>G
  • NT_113891.2:g.4120377C>G
  • NT_113891.3:g.4120271C>A
  • NT_113891.3:g.4120271C>G
  • NT_113891.3:g.4120271C>T
  • NT_167245.1:g.3957149C>G
  • NT_167245.2:g.3951564C>A
  • NT_167245.2:g.3951564C>G
  • NT_167245.2:g.3951564C>T
  • NT_167246.1:g.4132387C>G
  • NT_167246.2:g.4126767C>A
  • NT_167246.2:g.4126767C>G
  • NT_167246.2:g.4126767C>T
  • NT_167247.1:g.4011784C>G
  • NT_167247.2:g.4006199C>A
  • NT_167247.2:g.4006199C>G
  • NT_167247.2:g.4006199C>T
  • NT_167248.1:g.3906831C>G
  • NT_167248.2:g.3901235C>A
  • NT_167248.2:g.3901235C>G
  • NT_167248.2:g.3901235C>T
  • NT_167249.1:g.4106888C>G
  • NT_167249.2:g.4107590C>A
  • NT_167249.2:g.4107590C>G
  • NT_167249.2:g.4107590C>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 ss278741409 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1794265 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
ss2660406SC_JCM|U92032.1_1213byFreqfwd/TC/Gctggaagtgggataatcgccgaccacagtccagtgcagtgctaatattatcaattattag11/03/0005/16/0489Genomicunknown
ss75299909ILLUMINA|ILMN_Human_1M_rs1794265fwd/C/Gctggaagtgggataatcgccgaccacagtccagtgcagtgctaatattatcaattattag08/28/0708/29/07129Genomicunknown
ss119403716KRIBB_YJKIM|KHS1565963fwd/C/Gctggaagtgggataatcgccgaccacagtccagtgcagtgctaatattatcaattattag02/04/0902/04/09131Genomicunknown
ss123181653ILLUMINA|HumanCNV370v1_C_rs1794265fwd/C/Gctggaagtgggataatcgccgaccacagtccagtgcagtgctaatattatcaattattag04/14/0904/15/09137Genomicunknown
ss153734671ILLUMINA|Human610_Quadv1_B_rs1794265-128_T_F_1514248202fwd/C/Gctggaagtgggataatcgccgaccacagtccagtgcagtgctaatattatcaattattag06/18/0906/19/09137Genomicunknown
ss170814267ILLUMINA|HumanCNV370-Quadv3_C_rs1794265-128_T_F_1514248202fwd/C/Gctggaagtgggataatcgccgaccacagtccagtgcagtgctaatattatcaattattag10/01/0910/03/09132Genomicunknown
ss172922311ILLUMINA|Human1M-Duov3_B_rs1794265-128_T_F_1514248202fwd/C/Gctggaagtgggataatcgccgaccacagtccagtgcagtgctaatattatcaattattag10/01/0910/02/09132Genomicunknown
ss2334157411000GENOMES|pilot_1_CEU_3020370_chr6_32782715rev/C/Gctaataattgataatattagcactgcactggactgtggtcggcgattatcccacttccag05/01/1005/01/10137Genomicunknown
ss2404826961000GENOMES|pilot_1_CHB+JPT_2367773_chr6_32782715rev/A/Cctaataattgataatattagcactgcactggactgtggtcggcgattatcccacttccag05/01/1005/01/10137Genomicunknown
ss254213271BL|SNP48616_6_32782715rev/C/Gctaataattgataatattagcactgcactggactgtggtcggcgattatcccacttccag08/19/1008/19/10137Genomicunknown
ss278741409GMI|GMI_AK_SNP_3061650rev/A/Cctaataattgataatattagcactgcactggactgtggtcggcgattatcccacttccag12/16/1012/16/10137Genomicunknown
ss535039784ILLUMINA|HumanOmni5-4v1_B_kgp26512588-0_B_R_1878314377rev/TA/Caattgataatattagcactgcactggactgtggtcggcgattatcccact06/22/1208/29/15146Genomicunknown
ss825652171ILLUMINA|HumanCNV370v1_C_rs1794265-89_T_F_IFA1185318362:1185318365rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact06/24/1311/21/14144Genomicunknown
ss982786162EVA-GONL|EVA-GONL_rs1794265rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact04/23/1404/24/14142Genomicunknown
ss1073512686JMKIDD_LAB|HGDP_WGS_chr6_32674737rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact07/10/1407/11/14142Genomicunknown
ss1581614800EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1794265rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact02/19/1502/20/15144Genomicunknown
ss1592320518EVA_DECODE|EVA_DECODE_6_32782715_284556_rs1794265rev/TA/Caattgataatattagcactgcactggactgtggtcggcgattatcccact03/02/1503/03/15144Genomicunknown
ss1592320519EVA_DECODE|EVA_DECODE_6_32782715_284557_rs1794265rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact03/02/1503/03/15144Genomicunknown
ss1615292156EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_6_32674737_17483695rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact03/04/1503/04/15144Genomicunknown
ss1658286189EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_6_32674737_17483695rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact03/04/1503/04/15144Genomicunknown
ss1712852510EVA_SVP|EVA_SVP_546877rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact03/12/1503/12/15144Genomicunknown
ss1926043892WEILL_CORNELL_DGM|SNV:chr6:32674737rev/TA/Caattgataatattagcactgcactggactgtggtcggcgattatcccact10/16/1510/17/15147Genomicunknown
ss2023656723JJLAB|SNP4159278rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact08/29/1608/30/16149Genomicunknown
ss2094826268ILLUMINA|Immuno_BeadChip_11419691_B_rs1794265-131_T_F_1866539730rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact09/27/1609/27/16150Genomicunknown
ss2095180077ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs1794265-131_T_F_1866539730rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact09/27/1609/27/16150Genomicunknown
ss2151832440USC_VALOUEV|NC_000006.11:g.32674737C>Grev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact11/17/1611/17/16150Genomicunknown
ss2282992913HUMAN_LONGEVITY|HLI-6-32706960-C-A,G,Trev/A/C/G/Taattgataatattagcactgcactggactgtggtcggcgattatcccact11/18/1611/18/16150Genomicunknown
ss2451373773TOPMED|6_32674737_C/Arev/A/Caattgataatattagcactgcactggactgtggtcggcgattatcccact11/20/1611/20/16150Genomicunknown
ss2451373774TOPMED|6_32674737_C/Grev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact11/20/1611/20/16150Genomicunknown
ss2707427202GRF|rs1794265rev/A/Caattgataatattagcactgcactggactgtggtcggcgattatcccact02/13/1702/13/17151Genomicunknown
ss2837518089GNOMAD|rs1794265rev/A/C/G/Taattgataatattagcactgcactggactgtggtcggcgattatcccact05/18/1705/18/17151Genomicunknown
ss2998840982SWEGEN|NC_000006.11:g.32674737C>Grev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact05/30/1705/30/17151Genomicunknown
ss3494051168TOPMED|TOPMed_freeze_5?chr6:32,706,960-01rev/A/Caattgataatattagcactgcactggactgtggtcggcgattatcccact10/05/1710/05/17151Genomicunknown
ss3494051169TOPMED|TOPMed_freeze_5?chr6:32,706,960-02rev/C/Gaattgataatattagcactgcactggactgtggtcggcgattatcccact10/05/1710/05/17151Genomicunknown
ss3494051170TOPMED|TOPMed_freeze_5?chr6:32,706,960-03rev/C/Taattgataatattagcactgcactggactgtggtcggcgattatcccact10/05/1710/05/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1794265|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 CTTACTCCAG ATGGACAAGG AGGAGGCCAG GGAGACATCC ACTATAGTAG AGATATAGCA
 AGAGTTGTTT TTTACACGTT TAATGTGATC GGATGTTGCA TCATTGATAT TGAGCCATGG
 AAAAAGGTAG GAACCAGGGA CAGCACAAGT TAGTTCAGAG GCATTGGTTA AGGGATAGGC
 TGTAAAACAA GCCAGATGCA GAAACGTTCC ATTTGCTTCA GGTGATAACT TGGTAATCAG
 CTTGGTTAGT CTGATGGTTA GAGGGGTGTT TAATAATGAT AGTGCAGTTG CATTGGTTAG
 GTGTGAAGGA TCCTACAGGG AAATTTCCTT CAGAAGCTGA AAAGCAAAGT GAGGCTTATT
 GTAAAAGGGG GGTGTGTTTA GTTATAGGCC CTCCAATGCC GGGGCCTTGG GGCTTGAAGC
 ATTGTAGGGA GTTGTAATAG GTTTGAAATA ATTTGTTAGC CTGATTGGCC CTGGAAGTGG
 GATAATCGCC GACCACAGTC
 N
 CAGTGCAGTG CTAATATTAT CAATTATTAG TGTCTCCGCA ACTTCAGTAT CTCTTATTAT
 TCTAATTCTA CTAACTATTC TCGAGTTTGC TGTTGCTCTT ATTCAAGCTT ATGTCTTCAC
 ACTATTAGTA AGTCTTTATT TGCATGATAA TACATAATGA CCCACCAAAC ACTTGCCTAC
 CATATAGCTG TACCTAGCCC TTGACCACTA ACAGGAGCTC TCTCGGCTCT CCTAATAACA
 TCTGGCCTGG CCATATGATT TCACTTTAAT TCTACCACTC TTTTAACTTT AGGCCTACTA
 ACCAACACAC TGACTATACA TCAGTGATGA CGTGATATTG TCCGAGAAAG TATATTCCAA
 GGCCACCACA CAACAATTGT CCTAAAAGAC CTCCGATACG GGATGCTCCT ATTTATTACC
 TCAGAAGTAT TCTTCTTCAC TGGTTTTTTT CTGGGCATTC TATCACTCCA GTTTAGCACC
 GACCCCAGAA TTAGGAGGAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
U92032 Z80899
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1794265 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
T
ss233415741pilot_1_CEU_low_coverage_panel 120AF 0.033333340.96666664
ss240482696pilot_1_CHB+JPT_low_coverage_panel 120AF 0.891666650.10833333
ss2660406CEPH 184AF 0.100000010.90000004
HapMap-CEUEuropean 120IG 0.050000000.949999991.000000000.025000000.97500002
HapMap-HCBAsian 90IG0.044444450.044444450.911111120.001000000.066666670.93333334
HapMap-JPTAsian 88IG 0.113636370.886363631.000000000.056818180.94318181
HapMap-YRISub-Saharan African 118IG 0.016949150.983050821.000000000.008474580.99152541
ENSEMBL_Watson 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.069+/-0.1730000

  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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