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Reference SNP (refSNP) Cluster Report: rs1057126                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/T (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.4006/2006 (1000 Genomes)
A=0.3384/42493 (TOPMED)
HGVS Names
  • CM000670.2:g.18223135A>T
  • NC_000008.10:g.18080644A>T
  • NC_000008.11:g.18223135A>T
  • NG_012245.2:g.57674A>T
  • NM_000662.7:c.*215A>T
  • NM_001160170.3:c.*215A>T
  • NM_001160171.3:c.*215A>T
  • NM_001160172.3:c.*215A>T
  • NM_001160173.3:c.*215A>T
  • NM_001160174.2:c.*215A>T
  • NM_001160175.3:c.*215A>T
  • NM_001160176.3:c.*215A>T
  • NM_001160179.2:c.*215A>T
  • NM_001291962.1:c.*215A>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 ss279716933 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1057126 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
ss1537555LEE|706923fwd/TA/Tcttttcaaataataataataataataataaaaatgtcttttaaagatggcctgtggttat09/13/0010/10/0386cDNAunknown
ss4425437LEE|e706923fwd/TA/Tcttttcaaataataataataataataataaaaatgtcttttaaagatggcctgtggttat04/26/0210/10/03106cDNAunknown
ss5586784SNP500CANCER|NAT1-01byFreqfwd/TA/Tcttttcaaataataataataataataataaaaatgtmttttaaagatggcctgtggttat09/26/0204/07/04116Genomicunknown
ss6311253RIKENSNPRC|ssj0007796fwd/TA/Tcttttcaaataataataataataataataaaaatgtmttttaaagatggcctgtggttat01/15/0310/10/03111Genomicunknown
ss14323977WI_SSAHASNP|chr8.NT_030737.8_5891565fwd/TA/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat11/05/0311/22/03119Genomicunknown
ss19737010CSHL-HAPMAP|CSHL-HuDD-200402.chr8.NT_030737.8_5891565fwd/TA/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat02/20/0403/04/04120Genomicunknown
ss24818949SEQUENOM|sqnm220348byFreqfwd/TA/Tcttttcaaataataataataataataataaaaatgtcttttaaagatggcctgtggttat06/18/0408/05/04123cDNAunknown
ss32478885EGP_SNPS|NAT1-055919byFreqfwd/A/Tcttttcaaataataataataataataataaaaatgtcttttaaagatggcctgtggttat01/06/0511/02/06125Genomicunknown
ss35436460SSAHASNP|TA-079.chr8_18124924fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat03/11/05125Genomicunknown
ss43218406ABI|hCV8947907fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat07/18/0507/18/05126Genomicunknown
ss78923803HGSV|Cor18507_SNV_20070510.chr8_18124924fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat10/19/0710/21/07129Genomicunknown
ss85244129HGSV|Cor19129_SNV_20070510.chr8_18124924fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat12/06/0712/08/07130Genomicunknown
ss93848355BCMHGSC_JDW|JWB-2436112fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat02/26/0803/05/08129Genomicunknown
ss143308727ENSEMBL|ENSSNP7171404fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat06/05/0906/06/09137Genomicunknown
ss161625863ENSEMBL|ENSSNP2782434byFreqfwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat09/24/0903/07/10137Genomicunknown
ss198864644BUSHMAN|BUSHMAN-chr8-18124923fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat02/16/1003/06/10137Genomicunknown
ss206533302BCM-HGSC-SUB|BCM_CMT_1011-1758270fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat03/15/1003/18/10137Genomicunknown
ss2235750501000GENOMES|pilot_1_YRI_5384733_chr8_18124924fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat04/22/1004/22/10137Genomicunknown
ss2343448921000GENOMES|pilot_1_CEU_3949521_chr8_18124924fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat05/01/1005/01/10137Genomicunknown
ss2412211771000GENOMES|pilot_1_CHB+JPT_3106254_chr8_18124924fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat05/01/1005/01/10137Genomicunknown
ss254155486BL|SNP37203_8_18124924fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat08/19/1008/19/10137Genomicunknown
ss279716933GMI|GMI_AK_SNP_4037186fwd/A/Tcttttcaaataataataataataataataaaaatgtattttaaagatggcctgtggttat12/16/1012/16/10137Genomicunknown
ss985254186EVA-GONL|EVA-GONL_rs80069221fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg04/23/1404/25/14142Genomicunknown
ss13288471371000GENOMES|PHASE3_V1_41157977fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg08/16/1408/16/14142Genomicunknown
ss1431435950DDI|DDI_rs1057126fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg11/04/1411/05/14144Genomicunknown
ss1582585600EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1057126fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg02/19/1502/20/15144Genomicunknown
ss1620096474EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18080644_22757081fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg03/04/1503/04/15144Genomicunknown
ss1663090507EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18080644_22757081fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg03/04/1503/04/15144Genomicunknown
ss1959092262ILLUMINA|8:18080644-A-T-0_B_R_2304239278fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg11/13/1511/13/15147Genomicunknown
ss1970924876GENOMED|rs8190861fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg02/16/1602/16/16147Genomicunknown
ss2024970100JJLAB|SNP5472655fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg08/29/1608/30/16149Genomicunknown
ss2153191687USC_VALOUEV|NC_000008.10:g.18080644A>Tfwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg11/17/1611/17/16150Genomicunknown
ss2301150717HUMAN_LONGEVITY|HLI-8-18223135-A-Tfwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg11/18/1611/18/16150Genomicunknown
ss2470808555TOPMED|8_18080644_A/Tfwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg11/20/1611/20/16150Genomicunknown
ss2708952068GRF|rs8190861fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg02/13/1702/13/17151Genomicunknown
ss3022824302ILLUMINA|MEGA_Consortium_v2_15070954_A2_8:18080644-A-T-0_B_R_2304239278fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg06/28/1706/28/17151Genomicunknown
ss3348073219CSHL|rs80069221fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg10/02/1710/02/17151Genomicunknown
ss3555475253TOPMED|TOPMed_freeze_5?chr8:18,223,135fwd/A/Tcaaataataataataataataataaaaatgtattttaaagatggcctgtg10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1057126|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=151
 TCGAACAATT GAAGATTTTG AGTCTATGAA TACATACCTG CAGACATCTC CATCATCTGT
 GTTTACTAGT AAATCATTTT GTTCCTTGCA GACCCCAGAT GGGGTTCACT GTTTGGTGGG
 CTTCACCCTC ACCCATAGGA GATTCAATTA TAAGGACAAT ACAGATCTAA TAGAGTTCAA
 GACTCTGAGT GAGGAAGAAA TAGAAAAAGT GCTGAAAAAT ATATTTAATA TTTCCTTGCA
 GAGAAAGCTT GTGCCCAAAC ATGGTGATAG ATTTTTTACT ATTTAGAATA AGGAGTAAAA
 CAATCTTGTC TATTTGTCAT CCAGCTCACC AGTTATCAAC TGACGACCTA TCATGTATCT
 TCTGTACCCT TACCTTATTT TGAAGAAAAT CCTAGACATC AAATCATTTC ACCTATAAAA
 ATGTCATCAT ATATAATTAA ACAGCTTTTT AAAGAAACAT AACCACAAAC CTTTTCAAAT
 AATAATAATA ATAATAATAA
 W
 AAATGTATTT TAAAGATGGC CTGTGGTTAT CTTGGAAATT GGTGATTTAT GCTAGAAAGC
 TTTTAATGTT GGTTTATTGT TGAATTCCTA GAAAAGTTTT ATTGGTAGAT GAGTAAATAA
 AATATTGTAA AAAAACTTAT TGTCTATAAA GTATATTAAA ACATTGTTGG CTAATATAAT
 TTGAAAAAAA GTGGTTTTTT GGAAGACTTA GGATATTATG GTGCTACATA ATTTTTCCTC
 GATGCTCTCT TCCTCTCATC TTTCTTGTCT CTTAAATTGC TTTACTTCCT TGCACACTTT
 GCCATACAAG AATGAACATG AGCTTTTCTT GTGTAGATCT GAGTTGAAAT CCTGTGGACA
 CTGGGCGAAT TACTTTTTAG ATCTGTAGCT CTGACTCCTC AGGCATAAAA TGGGAATAAT
 GCTTTTACAG TTTAGTGGCG GAACTAAACT CCCAAAATTA TTTGTTATAT GGATCAAGTA
 ATAACGTCAG TAATGTTTTT

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
sqnm220348 X17059.1 Hs.155956
dbSNP Blast Analysis
UniGene Cluster ID
155956

  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.
SourceA/A
A/T
T/T
HWPA
T
ss1328847137EAS 1008AF 0.527800020.47220001
EUR 1006AF 0.235599990.76440001
AFR 1322AF 0.499199990.50080001
AMR 694AF 0.357300010.64270002
SAS 978AF 0.336400000.66359997
ss143308727ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss161625863ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss223575050pilot_1_YRI_low_coverage_panel 118AF 0.457627120.54237288
ss234344892pilot_1_CEU_low_coverage_panel 120AF 0.183333340.81666666
ss241221177pilot_1_CHB+JPT_low_coverage_panel 120AF 0.533333360.46666667
ss24818949CEPH 184AF 0.110000000.88999999
ss32478885PDR90Global 176IG0.170454550.500000000.329545471.000000000.420454530.57954544
ss5586784P1 200AF0.150000010.400000010.449999990.250592000.349999990.64999998
CAUC1 62AF0.065000010.161000000.773999990.050043000.145000000.85500002
AFR1 46AF0.173999990.565000000.260999980.527089000.456999990.54299998
HISP1 46AF0.086999990.522000010.390999970.479500000.347999990.65200001
PAC1 46AF0.303999990.435000000.260999980.583882000.522000010.47799999

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.480+/-0.0970000

  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
UNKNOWNUNKNOWNYES

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