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: rs2411759                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.3425/1715 (1000 Genomes)
T=0.4000/50232 (TOPMED)
HGVS Names
  • CM000679.2:g.48993712C>T
  • NC_000017.10:g.47071074C>T
  • NC_000017.11:g.48993712C>T
  • NG_030585.1:g.1301C>T
Links , Linkout
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 ss282779498 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2411759 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
ss3378380TSC-CSHL|TSC1657823byFreqfwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga09/20/0104/07/04100Genomicunknown
ss16760717CSHL-HAPMAP|CSHL-HuAA-200402.chr17.NT_010783.14_5724352fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga02/17/0403/04/04120Genomicunknown
ss24541134PERLEGEN|afd4623914byFreqfwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga08/10/0409/13/04123Genomicunknown
ss40853504ABI|hCV1242964fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga07/17/0507/17/05126Genomicunknown
ss66581968ILLUMINA|HumanHap300v1.1_rs2411759fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga11/09/0611/09/06127Genomicunknown
ss67252650ILLUMINA|HumanHap550v1.1_rs2411759fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga11/14/0611/14/06127Genomicunknown
ss67650551ILLUMINA|HumanHap650Yv1.0_rs2411759fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga11/14/0611/14/06127Genomicunknown
ss70730994ILLUMINA|HumanHap550v3.0__rs2411759rev/TA/Gtcttctttattttttcctggagaacagtttgtctagttatggaatttaattatctgaatt04/20/0703/30/08130Genomicunknown
ss71300470ILLUMINA|HumanHap650Yv3.0_rs2411759fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga04/23/0704/23/07127Genomicunknown
ss75810077ILLUMINA|ILMN_Human_1M_rs2411759fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga08/28/0708/29/07129Genomicunknown
ss79134002ILLUMINA|HumanHap300v2.0_rs2411759fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga04/18/0711/18/07130Genomicunknown
ss84046741KRIBB_YJKIM|KHS613754fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga12/04/0712/06/07130Genomicunknown
ss96598216HUMANGENOME_JCVI|1103645337254fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga03/26/0803/26/08130Genomicunknown
ss1097903721000GENOMES|CEU.trio.12.15.2008_3405214_chr17_44426073fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga12/16/0812/16/08130Genomicunknown
ss1135842681000GENOMES|NA19240_2008_12_16_3064313_chr17_44426073fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga12/18/0812/18/08130Genomicunknown
ss118065283ILLUMINA-UK|NA18507_000048711_NCBI36.1_chr17_44426073fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga01/20/0901/20/09131Genomic99 %
ss122029259ILLUMINA|HumanCNV370v1_C_rs2411759fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga04/14/0904/15/09131Genomicunknown
ss143707955ENSEMBL|ENSSNP5339887fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga12/08/0810/17/09131Genomicunknown
ss153910527ILLUMINA|Human610_Quadv1_B_rs2411759-127_T_R_1501722608rev/TA/Gtcttctttattttttcctggagaacagtttgtctagttatggaatttaattatctgaatt06/18/0906/20/09131Genomicunknown
ss159388365ILLUMINA|Human660W-Quad_v1_A_rs2411759-128_T_R_1501722608rev/TA/Gtcttctttattttttcctggagaacagtttgtctagttatggaatttaattatctgaatt07/06/0907/07/09131Genomicunknown
ss169728854COMPLETE_GENOMICS|NA19240_36_chr17_44426073fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga10/01/0910/01/09132Genomicunknown
ss171246424ILLUMINA|HumanCNV370-Quadv3_C_rs2411759-127_T_R_1501722608rev/TA/Gtcttctttattttttcctggagaacagtttgtctagttatggaatttaattatctgaatt10/01/0910/03/09132Genomicunknown
ss173332629ILLUMINA|Human1M-Duov3_B_rs2411759-127_T_R_1501722608rev/TA/Gtcttctttattttttcctggagaacagtttgtctagttatggaatttaattatctgaatt10/01/0910/03/09132Genomicunknown
ss207837332BCM-HGSC-SUB|BCM_CMT_1011-2911133fwd/BC/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga03/15/1003/19/10132Genomicunknown
ss2275640291000GENOMES|pilot_1_YRI_9373712_chr17_44426073fwd/C/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga04/22/1004/22/10132Genomicunknown
ss2372581121000GENOMES|pilot_1_CEU_6862741_chr17_44426073fwd/C/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga05/01/1005/01/10132Genomicunknown
ss2435509821000GENOMES|pilot_1_CHB+JPT_5436059_chr17_44426073fwd/C/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga05/01/1005/01/10132Genomicunknown
ss282779498GMI|GMI_AK_SNP_7099917fwd/C/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga12/16/1012/16/10137Genomicunknown
ss292059765PJP|SNP_1566123_chr17_44426073fwd/C/Taattcagataattaaattccataactagacaaactgttctccaggaaaaaataaagaaga01/21/1101/21/11134Genomicunknown
ss537088005ILLUMINA|HumanOmni5-4v1_B_rs2411759-131_T_R_1885460779fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa06/22/1208/29/15146Genomicunknown
ss661102778SSMP|17_47071074fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa12/14/1202/14/15138Genomicunknown
ss825464520ILLUMINA|HumanCNV370v1_C_rs2411759-126_T_R_IFB1153900153:0fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa06/24/1311/21/14144Genomicunknown
ss993149328EVA-GONL|EVA-GONL_rs2411759fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa04/23/1404/30/14142Genomicunknown
ss1081084807JMKIDD_LAB|HGDP_WGS_chr17_47071074fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa07/10/1407/12/14142Genomicunknown
ss13588161781000GENOMES|PHASE3_V1_72355711fwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa08/16/1408/16/14142Genomicunknown
ss1428043705DDI|DDI_rs2411759fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa11/04/1411/04/14144Genomicunknown
ss1578174013EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2411759fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa02/19/1502/19/15144Genomicunknown
ss1635728999EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_17_47071074_39934510fwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa03/04/1503/04/15144Genomicunknown
ss1678723032EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_17_47071074_39934510fwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa03/04/1503/04/15144Genomicunknown
ss1697192262EVA_DECODE|EVA_DECODE_17_44426073_318271_rs2411759fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa03/02/1503/04/15144Genomicunknown
ss1713585237EVA_SVP|EVA_SVP_1279604fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa03/12/1503/12/15144Genomicunknown
ss1936611619WEILL_CORNELL_DGM|SNV:chr17:47071074fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa10/16/1510/19/15147Genomicunknown
ss1968397547GENOMED|rs2411759fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa02/16/1602/16/16147Genomicunknown
ss2029082026JJLAB|SNP9584581fwd/BC/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa08/29/1608/31/16149Genomicunknown
ss2157557223USC_VALOUEV|NC_000017.10:g.47071074C>Tfwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa11/17/1611/17/16150Genomicunknown
ss2217149858HUMAN_LONGEVITY|HLI-17-48993712-C-Tfwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa11/18/1611/18/16150Genomicunknown
ss2382303919TOPMED|17_47071074_C/Tfwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa11/19/1611/19/16150Genomicunknown
ss2702117079GRF|rs2411759fwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa02/13/1702/13/17151Genomicunknown
ss2950371305GNOMAD|rs2411759fwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa05/23/1705/23/17151Genomicunknown
ss3015609072SWEGEN|NC_000017.10:g.47071074C>Tfwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa05/30/1705/30/17151Genomicunknown
ss3028362711BIOINF_KMB_FNS_UNIBA|17.48993712C>Tfwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa07/05/1707/05/17151Genomicunknown
ss3263979091TOPMED|TOPMed_freeze_5?chr17:48,993,712fwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa10/01/1710/01/17151Genomicunknown
ss3351762348CSHL|rs2411759fwd/C/Tagataattaaattccataactagacaaactgttctccaggaaaaaataaa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2411759|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AAATGTATAT CTAAATATTA TGATTAATAA TTTACACATA TAACTGGACT GAATTAAAAT
 GATAGTTATG AAAACTTGGA GGCAGCCTGG GGAAATATTT ATGGTACAAA TGCAAGTGAA
 AAATTAAGAT ATAAAAATGA TAAATTTTAA ACCATTATAA ATGGACAAAT GCTGAAAAAT
 AAACATTTAC AAGTAAAATT AATTTTCTAT GACAAGTGAA ATTATTGATT TTTAATTTTT
 CTATTTTTTC TTTTTTCATT TTTTTAAACT TTTTTCTTTC CTTTTTGTCT TTCCTTTTTT
 TAACTTGGCT TATTTCTCCA AGAAAAATAT TCTTTTATTT TCATCTTTAA AAAAGTTGGT
 TTATTCTCTC AAACTTTTTT TTTCCTCTCT GCATGTATTT GTATATTCAC ATTGGAGGAA
 AATGGATTAT TATCCTATCT TTAAAATGGA GTCAAATGTC AGTGTTTCTG AATTCAGATA
 ATTAAATTCC ATAACTAGAC
 Y
 AAACTGTTCT CCAGGAAAAA ATAAAGAAGA GGAGGAAGAG GAGGAGAACA AGAAGAGGAA
 GAGGTATAAC AGTATTAATA TTACTATGTA GAATATACAA TATATATTAT ATACGATATG
 TATTATAAAG GATAATTATT AAAGAAAAAA CCATTTAATC CTGTAGCTAT ATTTTTAACT
 CTTACACAAG TGTAACTCTG CACTAAAGAT TTATCTGTCC CAAAGAAGCA ATGTAGAAAA
 AAAATTGAAA ATAAATACAA TATTTGATAG TAATCTTTAA TGTTAACAAA AACAAAGAAA
 AGAAAGATGA AAAGTTATGG TACCTCAAGT CTGCCCATTT TTATCCCTAA CCTAGGAATG
 TCAGTCTAGA TAAGAAATAA CCCTTAATGT GAGTGCTGGG CTCATTCAAA AGGGAGAGAT
 GAAACACCAA TCAATGTGAT TTAGTTCCCC CAACCCCAGC CTAAAATAGC CAGGTCACTA
 AGGCAAAACT GATTTGGGGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010783 ABBA01041187
dbSNP Blast Analysis

  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
T
ss118065283YRI 2IG 1.00000000 0.500000000.50000000
ss1358816178EAS 1008AF 0.831299960.16870001
EUR 1006AF 0.571600020.42840001
AFR 1322AF 0.649000050.35100001
AMR 694AF 0.576399980.42359999
SAS 978AF 0.635999980.36399999
ss143707955ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss169728854YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss227564029pilot_1_YRI_low_coverage_panel 118AF 0.644067820.35593221
ss237258112pilot_1_CEU_low_coverage_panel 120AF 0.483333320.51666665
ss243550982pilot_1_CHB+JPT_low_coverage_panel 120AF 0.841666640.15833333
ss24541134AFD_EUR_PANELEuropean 48IG0.375000000.375000000.250000000.250592000.562500000.43750000
AFD_AFR_PANELAfrican American 46IG0.521739130.434782590.043478260.583882000.739130440.26086956
AFD_CHN_PANELAsian 48IG0.791666690.166666670.041666670.250592000.875000000.12500000
ss3378380HapMap-CEUEuropean 226IG0.292035400.469026540.238938050.583882000.526548680.47345132
HapMap-HCBAsian 80IG0.625000000.324999990.050000001.000000000.787500020.21250001
HapMap-JPTAsian 90IG0.711111130.28888890 0.583882000.855555530.14444445
HapMap-YRISub-Saharan African 220IG0.381818180.463636370.154545461.000000000.613636370.38636363
HAPMAP-ASW 98IG0.367346940.530612230.102040820.342782000.632653060.36734694
HAPMAP-CHBAsian 82IG0.707317050.29268292 0.583882000.853658560.14634146
HAPMAP-GIH 176IG0.386363630.397727280.215909090.099721000.585227250.41477272
HAPMAP-LWK 174IG0.540229860.379310340.080459770.751830000.729885040.27011493
HAPMAP-MEX 100IG0.460000010.419999990.120000000.751830000.670000020.33000001
HAPMAP-MKK 276IG0.420289840.456521750.123188411.000000000.648550750.35144928
HAPMAP-TSI 172IG0.267441870.627906980.104651160.010028000.581395330.41860464
ENSEMBL_Watson 2IG1.00000000 1.00000000
ss96598216J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.450+/-0.1500000ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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