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Reference SNP (refSNP) Cluster Report: rs512577                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
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=0.4058/2032 (1000 Genomes)
T=0.3505/44012 (TOPMED)
HGVS Names
  • CM000673.2:g.126222046C>T
  • NC_000011.10:g.126222046C>T
  • NC_000011.9:g.126091941C>T
  • NG_017156.1:g.15323C>T
  • NM_001330446.1:c.-76-7179C>T
  • NM_024556.3:c.-76-7179C>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 ss281213412 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs512577 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
ss682766SC_JCM|AP000717.2_41869fwd/TA/Gagacacaaaacaataccatctcacaaaaacaacaagccgtgggccacactcttaacaagt07/27/0010/10/0383Genomicunknown
ss10657352BCM_SSAHASNP|chr11.NT_033899.5_29635187rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct06/29/0310/25/06116Genomicunknown
ss16122322SC_SNP|NT_033899.6_29635728rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct11/18/0311/22/03120Genomicunknown
ss38739218ABI|hCV3240691byFreqrev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct07/16/0511/02/06126Genomicunknown
ss66685848ILLUMINA|HumanHap300v1.1_rs512577fwd/TA/Gagacacaaaacaataccatctcacaaaaacaacaagccgtgggccacactcttaacaagt11/09/0611/09/06127Genomicunknown
ss67411726ILLUMINA|HumanHap550v1.1_rs512577fwd/TA/Gagacacaaaacaataccatctcacaaaaacaacaagccgtgggccacactcttaacaagt11/14/0611/14/06127Genomicunknown
ss67776405ILLUMINA|HumanHap650Yv1.0_rs512577fwd/TA/Gagacacaaaacaataccatctcacaaaaacaacaagccgtgggccacactcttaacaagt11/14/0611/14/06127Genomicunknown
ss70842654ILLUMINA|HumanHap550v3.0__rs512577rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct04/20/0703/31/08130Genomicunknown
ss71426780ILLUMINA|HumanHap650Yv3.0_rs512577fwd/TA/Gagacacaaaacaataccatctcacaaaaacaacaagccgtgggccacactcttaacaagt04/23/0704/23/07127Genomicunknown
ss75587084ILLUMINA|ILMN_Human_1M_rs512577fwd/TA/Gagacacaaaacaataccatctcacaaaaacaacaagccgtgggccacactcttaacaagt08/28/0708/29/07129Genomicunknown
ss76428038AFFY|AFFY_6_1M_SNP_A-8288892fwd/TA/Gaccatctcacaaaaacaacaagccgtgggcca08/28/0708/30/07130Genomicunknown
ss79206704ILLUMINA|HumanHap300v2.0_rs512577fwd/TA/Gagacacaaaacaataccatctcacaaaaacaacaagccgtgggccacactcttaacaagt04/18/0711/18/07130Genomicunknown
ss83471144KRIBB_YJKIM|KHS469347fwd/TA/Gagacacaaaacaataccatctcacaaaaacaacaagccgtgggccacactcttaacaagt12/04/0712/05/07130Genomicunknown
ss88861626BCMHGSC_JDW|JWB-0496287rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct02/26/0802/28/08129Genomicunknown
ss97519821HUMANGENOME_JCVI|1103649818744rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct03/29/0803/29/08130Genomicunknown
ss103011072BGI|BGI_rs512577rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct06/05/0810/21/09131Genomicunknown
ss1112354891000GENOMES|CEU.trio.12.15.2008_2645038_chr11_125597151rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct12/17/0812/17/08130Genomicunknown
ss119977871ILLUMINA-UK|NA18507_000162437_NCBI36.1_chr11_125597151rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct01/21/0902/06/09131Genomic99 %
ss122456069ILLUMINA|HumanCNV370v1_C_rs512577fwd/TA/Gagacacaaaacaataccatctcacaaaaacaacaagccgtgggccacactcttaacaagt04/14/0904/15/09131Genomicunknown
ss132905122ENSEMBL|ENSSNP10524443rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct05/11/0905/14/09131Genomicunknown
ss137821764ENSEMBL|ENSSNP513066rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct12/08/0810/16/09131Genomicunknown
ss154336134ILLUMINA|Human610_Quadv1_B_rs512577-128_B_R_1501801364rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct06/18/0906/20/09131Genomicunknown
ss156918552GMI|GMI_SNP_131070679rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct06/24/0906/25/09131Genomicunknown
ss159512725ILLUMINA|Human660W-Quad_v1_A_rs512577-128_B_R_1501801364rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct07/06/0907/07/09131Genomicunknown
ss160738439ILLUMINA|HumanOmni1-Quad_v1-0_B_rs512577-128_B_R_1501801364rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct08/04/0910/04/09131Genomicunknown
ss168797295COMPLETE_GENOMICS|NA07022_36_chr11_125597151rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct09/30/0910/01/09132Genomicunknown
ss172014774ILLUMINA|HumanCNV370-Quadv3_C_rs512577-128_B_R_1501801364rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct10/01/0910/04/09132Genomicunknown
ss173910075ILLUMINA|Human1M-Duov3_B_rs512577-128_B_R_1501801364rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct10/01/0910/04/09132Genomicunknown
ss175309222COMPLETE_GENOMICS|NA20431_36_chr11_125597151rev/BC/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct10/01/0910/05/09132Genomicunknown
ss2255208891000GENOMES|pilot_1_YRI_7330572_chr11_125597151rev/C/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct04/22/1004/22/10132Genomicunknown
ss2357614061000GENOMES|pilot_1_CEU_5366035_chr11_125597151rev/C/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct05/01/1005/01/10132Genomicunknown
ss2423530131000GENOMES|pilot_1_CHB+JPT_4238090_chr11_125597151rev/C/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct05/01/1005/01/10132Genomicunknown
ss281213412GMI|GMI_AK_SNP_5533801rev/C/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct12/16/1012/16/10137Genomicunknown
ss291162449PJP|SNP_668807_chr11_125597151rev/C/Tacttgttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttgtgtct01/21/1101/21/11134Genomicunknown
ss481133450ILLUMINA|HumanOmni2.5-4v1_B_rs512577-128_B_R_1767560990rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg01/30/1210/28/16137Genomicunknown
ss481155546ILLUMINA|HumanOmniExpress-12v1_C_rs512577-131_B_R_1857742986rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg01/30/1210/27/16137Genomicunknown
ss482145007ILLUMINA|HumanOmni1-Quad_v1-0_C_rs512577-131_B_R_1865568913rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg01/30/1208/28/15146Genomicunknown
ss485361774ILLUMINA|HumanOmni2.5-4v1_D_rs512577-131_B_R_1857742986rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg01/30/1210/27/16137Genomicunknown
ss537305886ILLUMINA|HumanOmni5-4v1_B_rs512577-131_B_R_1866552341rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg06/22/1208/29/15146Genomicunknown
ss562893579TISHKOFF|snp_chr11_126091941rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg11/22/1211/23/12138Genomicunknown
ss658419863SSMP|11_126091941rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg12/14/1202/13/15138Genomicunknown
ss778928257ILLUMINA|HumanOmni25Exome-8v1_A_rs512577-131_B_R_1866552341rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg05/30/1307/10/15146Genomicunknown
ss783126569ILLUMINA|HumanOmni2.5-4v1_H_rs512577-131_B_R_1857742986rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg05/30/1307/29/15142Genomicunknown
ss784083170ILLUMINA|HumanOmniExpressExome-8v1_A_rs512577-131_B_R_1967908930rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg05/31/1306/18/15146Genomicunknown
ss825537222ILLUMINA|HumanCNV370v1_C_rs512577-126_B_R_IFB1135768496:0rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg06/24/1311/21/14144Genomicunknown
ss832385417ILLUMINA|HumanOmniExpress-12v1_H_rs512577-131_B_R_1857742986rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg09/17/1306/18/15144Genomicunknown
ss833024029ILLUMINA|Human660W-Quad_v1_C_rs512577-131_B_R_1857742986rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg09/18/1307/02/15142Genomicunknown
ss833614857ILLUMINA|Human660W-Quad_v1_H_rs512577-131_B_R_1857742986rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg09/18/1307/02/15142Genomicunknown
ss834389767ILLUMINA|HumanOmni2.5-8v1_A_rs512577-131_B_R_1866552341rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg09/18/1307/29/15146Genomicunknown
ss989075208EVA-GONL|EVA-GONL_rs512577rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg04/23/1404/25/14142Genomicunknown
ss1078129810JMKIDD_LAB|HGDP_WGS_chr11_126091941rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg07/10/1407/12/14142Genomicunknown
ss13433943441000GENOMES|PHASE3_V1_56289319rev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg08/16/1408/16/14142Genomicunknown
ss1397620531HAMMER_LAB|HAMMER_LAB_rs512577rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg09/30/1409/30/14146Genomicunknown
ss1426796168DDI|DDI_rs512577rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg11/04/1411/04/14144Genomicunknown
ss1576019431EVA_GENOME_DK|EVA_GENOME_DK_snv_rs512577rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg02/19/1502/19/15144Genomicunknown
ss1627696635EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_11_126091941_31089061rev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg03/04/1503/04/15144Genomicunknown
ss1670690668EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_11_126091941_31089061rev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg03/04/1503/04/15144Genomicunknown
ss1713294009EVA_SVP|EVA_SVP_988376rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg03/12/1503/12/15144Genomicunknown
ss1752002075ILLUMINA|OmniExpressExome-8v1-1_B_rs512577-131_B_R_1967908930rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg05/27/1506/09/15146Genomicunknown
ss1932436979WEILL_CORNELL_DGM|SNV:chr11:126091941rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg10/16/1510/17/15147Genomicunknown
ss1967486335GENOMED|rs512577rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg02/16/1602/16/16147Genomicunknown
ss2026964521JJLAB|SNP7467076rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg08/29/1608/30/16149Genomicunknown
ss2094792295ILLUMINA|Immuno_BeadChip_11419691_B_rs512577-131_B_R_1866552341rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg09/27/1609/27/16150Genomicunknown
ss2095028309ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs512577-131_B_R_1866552341rev/BC/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg09/27/1609/27/16150Genomicunknown
ss2155281103USC_VALOUEV|NC_000011.9:g.126091941C>Trev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg11/17/1611/17/16150Genomicunknown
ss2186589575HUMAN_LONGEVITY|HLI-11-126222046-C-Trev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg11/18/1611/18/16150Genomicunknown
ss2350183469TOPMED|11_126091941_C/Trev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg11/19/1611/19/16150Genomicunknown
ss2627958851SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4742579rev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg01/06/1701/06/17151Genomicunknown
ss2632902665ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs512577-131_B_R_196790893rev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg02/02/1702/02/17151Genomicunknown
ss2699595249GRF|rs512577rev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg02/13/1702/13/17151Genomicunknown
ss2905650625GNOMAD|rs512577rev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg05/22/1705/22/17151Genomicunknown
ss3008952952SWEGEN|NC_000011.9:g.126091941C>Trev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg05/30/1705/30/17151Genomicunknown
ss3027284204BIOINF_KMB_FNS_UNIBA|11.126222046C>Trev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg07/05/1707/05/17151Genomicunknown
ss3159124022TOPMED|TOPMed_freeze_5?chr11:126,222,046rev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg09/30/1709/30/17151Genomicunknown
ss3349846059CSHL|rs512577rev/C/Tttaagagtgtggcccacggcttgttgtttttgtgagatggtattgttttg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs512577|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CAAGAAATTA GAATCACATA GTACTTTTGT TGAAAGTCTA TAGATTTGTT TCATAAAACA
 AAGCTACATG CACTTTCCTC TCAGTCCACT TCCATTTGTA GTTCTCCTAT GGCCTGGCCA
 TGATTATATT CTGTATATGC TTGTAGAATT TTAAAATGCT AGGAACTGAA TTCATCACAG
 GTTACTACAT CTTCACGTTC AAATATCTGT TAAACATCCA GCACTGTGCT AAGAATATTA
 GTATTGCTGC ATCCAGTTCT CCTCCACCAA ACACTACATA GCATTGACAG TAAGCCAGGC
 ACTGTTTTCC ACACTTCACA AATATCTGCT CTTCTGTGAG GTAGATGCTA TTATCATCTC
 ATATCATAAA TGGTATAGAC AATGAAACAG AAGCACACAG ATGTTAAGCA GCTTGTTAAA
 GGTCACACGA CTATTACACA TTAGACATGG AGTCAGTGTT CATGTTGTTA AGACACAAAA
 CAATACCATC TCACAAAAAC
 R
 AACAAGCCGT GGGCCACACT CTTAACAAGT CTACACCTTT GGAGAAACAG AACTATAAAC
 AAACCTTTAC AACATGTTTG TGCCAAGTTT CACATGCCTG GATGAGGTAC CAAGGAGATG
 AGCACTTCTG CTTGAGGAAA ATCAAGGAAA GCTTTATGGG AGATAAATAC CCTTATGGCA
 AAATTCAATG AAATTGTTGG TGTTTATCCT CCTCTGCCTC CTGAAACACC CAACACTGAA
 GTCCATCTTG CCTTTTCCTG GTTTTCCTCC CTCCCCTCTA GTGGGAGGTC TTCCCTGTTT
 CCTAAATGCT GAGGATCCGC AGGGCTCTCC AGTCTATTCC CTTTACATAC TCCCTTCCCT
 TCCCACCCCA TTCACCCCTA GATATTAAAA TACCAACTAA ACGCTAAGGA CTCCCAAAAC
 GCTACCTTCA GTTCAGATCT CGGTGGTGCT TCAGGCCCAG GAGATAGCCA TGTAAGTTTC
 AGTCAGGCAG CCCTTCAATA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_033899 ABBA01031229 AC026265
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs512577 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
ss119977871YRI 2IG 1.00000000 0.500000000.50000000
ss132905122ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss1343394344EAS 1008AF 0.666700010.33329999
EUR 1006AF 0.341899990.65810001
AFR 1322AF 0.186800000.81320000
AMR 694AF 0.469700010.53030002
SAS 978AF 0.453000010.54699999
ss137821764ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss168797295CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss175309222PGP 2IG 1.00000000 0.500000000.50000000
ss225520889pilot_1_YRI_low_coverage_panel 118AF 0.135593220.86440676
ss235761406pilot_1_CEU_low_coverage_panel 120AF 0.333333340.66666669
ss242353013pilot_1_CHB+JPT_low_coverage_panel 120AF 0.683333340.31666666
ss38739218HapMap-CEUEuropean 222IG0.090090090.468468460.441441450.479500000.324324310.67567569
HapMap-HCBAsian 86IG0.488372090.488372090.023255810.150222000.732558130.26744187
HapMap-JPTAsian 172IG0.441860470.372093020.186046510.099721000.627906980.37209302
HapMap-YRISub-Saharan African 224IG0.008928570.330357130.660714270.150222000.174107150.82589287
HAPMAP-ASW 96IG0.041666670.437500000.520833310.371093000.260416660.73958331
HAPMAP-CHBAsian 82IG0.512195110.390243890.097560970.751830000.707317050.29268292
HAPMAP-CHD 170IG0.482352940.411764710.105882350.751830000.688235280.31176472
HAPMAP-GIH 176IG0.238636360.488636370.272727281.000000000.482954530.51704544
HAPMAP-LWK 180IG0.022222220.388888900.588888880.200325000.216666670.78333336
HAPMAP-MEX 100IG0.180000010.540000020.280000000.527089000.449999990.55000001
HAPMAP-MKK 284IG0.119718310.457746480.422535211.000000000.348591540.65140843
HAPMAP-TSI 176IG0.125000000.488636370.386363630.654721000.369318190.63068181
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss97519821J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.482+/-0.0930000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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