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Reference SNP (refSNP) Cluster Report: rs2306677                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (REV)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.1891/947 (1000 Genomes)
A=0.1575/19776 (TOPMED)
HGVS Names
  • CM000674.2:g.26483453A>C
  • CM000674.2:g.26483453A>G
  • NC_000012.11:g.26636386A>G
  • NC_000012.12:g.26483453A>C
  • NC_000012.12:g.26483453A>G
  • NG_042142.1:g.354746T>C
  • NG_042142.1:g.354746T>G
  • NM_002223.3:c.6012+245T>C
  • NM_002223.3:c.6012+245T>G
  • XR_001748686.1:n.6488+245T>C
  • XR_001748686.1:n.6488+245T>G
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 ss281320047 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2306677 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
ss3254274YUSUKE|IMS-JST064359byFreqfwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt09/05/0110/10/03100Genomicunknown
ss6870322WI_SSAHASNP|NT_035212.2_4055441rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt02/12/0310/25/06111Genomicunknown
ss14461620WUGSC_SSAHASNP|chr12.NT_009714.16_19395360byFreqrev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt11/05/0310/25/06119Genomicunknown
ss16129155SC_SNP|NT_009714.16_19395360rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt11/18/0311/22/03120Genomicunknown
ss20965748SSAHASNP|WGSA-200403-chr12.chr12.NT_009714.16_19395360rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt03/19/0403/19/04121Genomicunknown
ss24002788PERLEGEN|afd2022342byFreqrev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt08/10/0409/13/04123Genomicunknown
ss38925520ABI|hCV3148961byFreqrev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt07/16/0511/02/06126Genomicunknown
ss66775824ILLUMINA|HumanHap300v1.1_rs2306677fwd/TC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt11/09/0611/09/06127Genomicunknown
ss67245540ILLUMINA|HumanHap550v1.1_rs2306677fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt11/14/0611/14/06127Genomicunknown
ss67642574ILLUMINA|HumanHap650Yv1.0_rs2306677fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt11/14/0611/14/06127Genomicunknown
ss69104835PERLEGEN|PGP02022342byFreqrev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt01/30/0708/14/07127Genomicunknown
ss70723869ILLUMINA|HumanHap550v3.0__rs2306677fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt04/20/0703/30/08130Genomicunknown
ss71292483ILLUMINA|HumanHap650Yv3.0_rs2306677fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt04/23/0704/23/07127Genomicunknown
ss74844498AFFY|SNP_M-603259fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt08/09/0708/09/07128Genomicunknown
ss75800394ILLUMINA|ILMN_Human_1M_rs2306677fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt08/28/0708/29/07129Genomicunknown
ss78289433HGSV|Cor12878_SNV_20070510.chr12_26527653byFreqrev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt10/17/0709/05/14129Genomicunknown
ss79129063ILLUMINA|HumanHap300v2.0_rs2306677fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt04/18/0711/18/07130Genomicunknown
ss84031649KRIBB_YJKIM|KHS607535fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt12/04/0712/06/07130Genomicunknown
ss89046050BCMHGSC_JDW|JWB-0536627rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt02/26/0802/28/08129Genomicunknown
ss97216256HUMANGENOME_JCVI|1103649398299rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt03/28/0803/28/08130Genomicunknown
ss106795171BGI|BGI_rs2306677rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt09/16/0810/21/09130Genomicunknown
ss1116798281000GENOMES|CEU.trio.12.15.2008_2702519_chr12_26527653rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt12/17/0812/17/08130Genomicunknown
ss122000180ILLUMINA|HumanCNV370v1_C_rs2306677fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt04/14/0904/15/09131Genomicunknown
ss132106015ENSEMBL|ENSSNP720629rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt12/08/0810/14/09131Genomicunknown
ss133065617ENSEMBL|ENSSNP6840487rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt05/11/0905/14/09131Genomicunknown
ss153902907ILLUMINA|Human610_Quadv1_B_rs2306677-127_B_F_1501713237fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt06/18/0906/20/09131Genomicunknown
ss157252295GMI|GMI_SNP_31249110rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt06/24/0906/25/09131Genomicunknown
ss159380712ILLUMINA|Human660W-Quad_v1_A_rs2306677-128_B_F_1501713237fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt07/06/0907/07/09131Genomicunknown
ss160534926ILLUMINA|HumanOmni1-Quad_v1-0_B_rs2306677-128_B_F_1501713237fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt08/04/0910/03/09131Genomicunknown
ss168008457COMPLETE_GENOMICS|NA07022_36_chr12_26527653rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt09/30/0909/30/09132Genomicunknown
ss169391982COMPLETE_GENOMICS|NA19240_36_chr12_26527653rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt10/01/0910/01/09132Genomicunknown
ss170618662COMPLETE_GENOMICS|NA20431_36_chr12_26527653rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt10/01/0910/05/09132Genomicunknown
ss171188686ILLUMINA|HumanCNV370-Quadv3_C_rs2306677-127_B_F_1501713237fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt10/01/0910/03/09132Genomicunknown
ss173282278ILLUMINA|Human1M-Duov3_B_rs2306677-127_B_F_1501713237fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt10/01/0910/03/09132Genomicunknown
ss197915996BUSHMAN|BUSHMAN-chr12-26527652rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt02/16/1003/05/10132Genomicunknown
ss208262431BCM-HGSC-SUB|BCM_CMT_1011-2380196rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt03/15/1003/19/10132Genomicunknown
ss209088114ILLUMINA|ALS_iSelect_272541_A_rs2306677-127_B_F_IFB1223202261fwd/BC/Taaaaatcaacttactgaaaaaagtgaaatagtgtcatgaccaccacccagttttcatctt03/24/1003/24/10132Genomicunknown
ss2112582871000GENOMES|YRI.trio.3.2010_1089453_chr12_26527653rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt03/29/1003/30/10132Genomicunknown
ss2256650561000GENOMES|pilot_1_YRI_7474739_chr12_26527653rev/A/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt04/22/1004/22/10132Genomicunknown
ss2358701371000GENOMES|pilot_1_CEU_5474766_chr12_26527653rev/A/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt05/01/1005/01/10132Genomicunknown
ss2424393401000GENOMES|pilot_1_CHB+JPT_4324417_chr12_26527653rev/A/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt05/01/1005/01/10132Genomicunknown
ss254971125BL|SNP33482_12_26527653rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt08/19/1008/19/10134Genomicunknown
ss281320047GMI|GMI_AK_SNP_5640436rev/A/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt12/16/1012/16/10137Genomicunknown
ss286529121GMI|GMI_NA10851_SNP_2541912rev/A/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt12/17/1012/17/10138Genomicunknown
ss291405899PJP|SNP_912257_chr12_26527653rev/A/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt01/21/1101/21/11134Genomicunknown
ss480526624ILLUMINA|HumanOmni2.5-4v1_B_rs2306677-128_B_F_1773296149rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga01/30/1210/28/16137Genomicunknown
ss480543113ILLUMINA|HumanOmniExpress-12v1_C_rs2306677-131_B_F_1857202557rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga01/30/1210/27/16137Genomicunknown
ss481354075ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2306677-131_B_F_1865287523rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga01/30/1208/28/15146Genomicunknown
ss485060524ILLUMINA|HumanOmni2.5-4v1_D_rs2306677-131_B_F_1857202557rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga01/30/1210/27/16137Genomicunknown
ss491465653EXOME_CHIP|.GWAS._181879_chr_12_26636386rev/TA/Gaagatgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttgattttt03/05/1203/05/12137Genomicunknown
ss537075976ILLUMINA|HumanOmni5-4v1_B_rs2306677-131_B_F_1885473179rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga06/22/1208/29/15146Genomicunknown
ss563063849TISHKOFF|snp_chr12_26636386rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga11/22/1211/23/12138Genomicunknown
ss658602445SSMP|12_26636386rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga12/14/1202/13/15138Genomicunknown
ss778491866ILLUMINA|HumanOmni25Exome-8v1_A_rs2306677-131_B_F_1865287523rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/30/1307/10/15146Genomicunknown
ss780683325ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs2306677-131_B_F_1990481202rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/30/1307/10/15146Genomicunknown
ss782976507ILLUMINA|HumanOmni2.5-4v1_H_rs2306677-131_B_F_1857202557rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/30/1307/29/15146Genomicunknown
ss783356717ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs2306677-131_B_F_1990481202rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/31/1306/18/15146Genomicunknown
ss783937629ILLUMINA|HumanOmniExpressExome-8v1_A_rs2306677-131_B_F_1885473179rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/31/1306/18/15146Genomicunknown
ss825459581ILLUMINA|HumanCNV370v1_C_rs2306677-126_B_F_IFB1136802308:0rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga06/24/1311/21/14147Genomicunknown
ss832232974ILLUMINA|HumanOmniExpress-12v1_H_rs2306677-131_B_F_1857202557rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga09/17/1306/18/15146Genomicunknown
ss833947878ILLUMINA|HumanOmni2.5-8v1_A_rs2306677-131_B_F_1865287523rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga09/18/1307/29/15146Genomicunknown
ss989357155EVA-GONL|EVA-GONL_rs2306677rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga04/23/1404/25/14142Genomicunknown
ss1078336207JMKIDD_LAB|HGDP_WGS_chr12_26636386rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga07/10/1407/12/14142Genomicunknown
ss13443529291000GENOMES|PHASE3_V1_57288114rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga08/16/1408/16/14142Genomicunknown
ss1426879711DDI|DDI_rs2306677rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga11/04/1411/04/14144Genomicunknown
ss1576179288EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2306677rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga02/19/1502/19/15144Genomicunknown
ss1599031280EVA_DECODE|EVA_DECODE_12_26527653_210702_rs2306677rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga03/02/1503/04/15144Genomicunknown
ss1628248276EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_26636386_31697603rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga03/04/1503/04/15144Genomicunknown
ss1671242309EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_26636386_31697603rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga03/04/1503/04/15144Genomicunknown
ss1713316067EVA_SVP|EVA_SVP_1010434rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga03/12/1503/12/15144Genomicunknown
ss1752062456ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs2306677-131_B_F_1990481202rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/27/1506/09/15146Genomicunknown
ss1752062457ILLUMINA|OmniExpressExome-8v1-1_B_rs2306677-131_B_F_2087476864rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/27/1506/09/15146Genomicunknown
ss1807169970HAMMER_LAB|Hsieh_6191014rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga07/15/1507/16/15146Genomicunknown
ss1917871880ILLUMINA|HumanExome-12v1-1_B_exm-rs2306677-131_B_F_1990481202rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga10/16/1510/16/15147Genomicunknown
ss1932720230WEILL_CORNELL_DGM|SNV:chr12:26636386rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga10/16/1510/17/15147Genomicunknown
ss1946334594ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs2306677-131_B_F_1990481202rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga10/29/1510/29/15147Genomicunknown
ss1946334595ILLUMINA|HumanCoreExome-12v1-0_C_rs2306677-131_B_F_2087476864rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga10/29/1510/29/15147Genomicunknown
ss1959422811ILLUMINA|exm-rs2306677-131_B_F_1990481202rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga11/13/1511/13/15147Genomicunknown
ss1959422812ILLUMINA|rs2306677-131_B_F_1885473179rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga11/13/1511/13/15147Genomicunknown
ss1967552776GENOMED|rs2306677rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga02/16/1602/16/16147Genomicunknown
ss2027109346JJLAB|SNP7611901rev/TA/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga08/29/1608/30/16149Genomicunknown
ss2155435594USC_VALOUEV|NC_000012.11:g.26636386A>Grev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga11/17/1611/17/16150Genomicunknown
ss2188685744HUMAN_LONGEVITY|HLI-12-26483453-A-Grev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga11/18/1611/18/16150Genomicunknown
ss2352349302TOPMED|12_26636386_A/Grev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga11/19/1611/19/16150Genomicunknown
ss2628034812SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4838581rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga01/06/1701/06/17151Genomicunknown
ss2632940296ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs2306677-131_T_R_2131rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga02/02/1702/02/17151Genomicunknown
ss2632940297ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2306677-131_B_F_20874768rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga02/02/1702/02/17151Genomicunknown
ss2632940298ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs2306677-131_T_R_2130rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga02/02/1702/02/17151Genomicunknown
ss2699765509GRF|rs2306677rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga02/13/1702/13/17151Genomicunknown
ss2710757123ILLUMINA|Consortium-OncoArray_15047405_A_rs2306677-131_B_F_2087476864rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga03/22/1703/22/17151Genomicunknown
ss2908596284GNOMAD|rs2306677rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/22/1705/22/17151Genomicunknown
ss2984970968AFFY|Axiom_PsorMich_Affx-7544364rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/24/1705/24/17151Genomicunknown
ss3009392281SWEGEN|NC_000012.11:g.26636386A>Grev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga05/30/1705/30/17151Genomicunknown
ss3021416728ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs2306677-131_B_F_1990481202rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga06/28/1706/28/17151Genomicunknown
ss3021416729ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs2306677-138_B_F_2264358837rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga06/28/1706/28/17151Genomicunknown
ss3027361865BIOINF_KMB_FNS_UNIBA|12.26483453A>Grev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga07/05/1707/05/17151Genomicunknown
ss3165844000TOPMED|TOPMed_freeze_5?chr12:26,483,453-01rev/A/Cgaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga09/30/1709/30/17151Genomicunknown
ss3165844001TOPMED|TOPMed_freeze_5?chr12:26,483,453-02rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga09/30/1709/30/17151Genomicunknown
ss3349979907CSHL|rs2306677rev/A/Ggaaaactgggtggtggtcatgacactatttcacttttttcagtaagttga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2306677|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 CAATCAGCAC AGTGAATTTT TGTAACCCTT CAATTTTATT TTCTTTTGCC TTCAGAACTT
 CTTGAGGAAT CAAAACAACA AAACAAATTA CAACCTAGTC TGTGAGACCC TTCAGTTTCT
 GGACTGCATT TGTGGAAGTA CAACCGGTGG CCTGGGCCTG TTGGGTCTCT ACATCAATGA
 GAAGAATGTA GCGCTGGTCA ACCAGAACCT GGAGAGCTTG ACTGAGTATT GCCAGGGCCC
 TTGCCATGAA AATCAGGTAA CCAGAAGTAT CCATGACTAA TTAGTAAAGG GATTAATTTG
 GGGAAGGAGC CAATCTTTGT GTGCACTTGA AAGATCTTTC TTCTTGCTTT GCCAGACATT
 TTTACTTTCC TAATAAAACA TACAAAGACT GAATTATAGA CAAGGAAATA CTATGCTGTA
 TTTGTAGATA ATTTCATTGT AAAAACAAGT CCCATGAAAA TGTTCAAGAT AAAAATCAAC
 TTACTGAAAA AAGTGAAATA
 B
 GTGTCATGAC CACCACCCAG TTTTCATCTT TAGTGAACTT TTCCAGGATT TGTGGAATAA
 ACTTTCTTTG GCTCCTTTGG CATCCCTACA AGGAGTAGTA TATGTTATTT CTTTTATATG
 CACAATAAAC TTATGAATAG GTATCATTAT TTCTAGTTTG CTGATGAATA GGTTCTAACC
 CAAAGATTAA GTGACTTTCC AGAGTTTCAG AGTGACAGAA TCAATAAGTT GTAGAGCCAT
 TCTTACAACT AAGGACTTTT GATTCTGAGT CTAAATCGAG TGCTCTTTTG ACTATATTAC
 ATTTTGGAGG GCACAGTTTC AAGTCTCTTT TCCAGAATGT TTGTCTCTGA TTTTGTTTTC
 TGGGATATCA AGGATATATT GTGGGAGTAG AAGGCAGGAC ACTTGGGTCA ATCAAGGTAA
 GGGATGCCAC CTGAAAGTTT GCCAGTTGAC TGTTTCACCT CCTCTCAGGC ATCATGGAGC
 TACCATCGTA AGCATGGATC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 ABBA01068033
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs2306677 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss132106015ENSEMBL_Venter 2IG1.00000000 1.00000000
ss133065617ENSEMBL_Watson 2IG1.00000000 1.00000000
ss1344352929EAS 1008AF 0.782700000.21730001
EUR 1006AF 0.902600050.09739999
AFR 1322AF 0.692099990.30789998
AMR 694AF 0.851599990.14840001
SAS 978AF 0.877299960.12270001
ss168008457CEUEuropean 2IG1.00000000 1.00000000
ss169391982YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss170618662PGP 2IG1.00000000 1.00000000
ss197915996BANTU 2IG 1.00000000 0.500000000.50000000
ss225665056pilot_1_YRI_low_coverage_panel 118AF 0.762711880.23728813
ss235870137pilot_1_CEU_low_coverage_panel 120AF 0.908333360.09166667
ss24002788AFD_EUR_PANELEuropean 48IG0.833333310.16666667 1.000000000.916666690.08333334
AFD_AFR_PANELAfrican American 46IG0.739130440.26086956 0.751830000.869565190.13043478
AFD_CHN_PANELAsian 48IG0.541666690.375000000.083333341.000000000.729166690.27083334
ss242439340pilot_1_CHB+JPT_low_coverage_panel 120AF 0.783333360.21666667
ss3254274JBIC-allele 926AF 0.838999990.16100000
ss38925520AoD_African_American 90AF 0.759999990.24000001
AoD_Caucasian 92AF 0.889999990.11000000
AoD_Chinese 90AF 0.690000000.31000000
AoD_Japanese 90AF 0.860000010.14000000
ss69104835HapMap-CEUEuropean 120IG0.833333310.16666667 1.000000000.916666690.08333334
HapMap-HCBAsian 90IG0.644444470.311111120.044444451.000000000.800000010.20000000
HapMap-JPTAsian 90IG0.644444470.311111120.044444451.000000000.800000010.20000000
HapMap-YRISub-Saharan African 120IG0.533333360.400000010.066666671.000000000.733333350.26666668
ss78289433HapMap-CEUEuropean 226IG0.743362840.247787610.008849560.438578000.867256640.13274336
HapMap-HCBAsian 86IG0.627906980.325581400.046511631.000000000.790697690.20930232
HapMap-JPTAsian 172IG0.662790720.279069780.058139540.273322000.802325610.19767442
HapMap-YRISub-Saharan African 226IG0.539823000.407079640.053097340.479500000.743362840.25663716
HAPMAP-ASW 98IG0.510204080.428571430.061224490.654721000.724489810.27551019
HAPMAP-CHBAsian 82IG0.560975610.341463420.097560970.438578000.731707330.26829270
HAPMAP-CHD 170IG0.635294140.341176480.023529410.438578000.805882330.19411765
HAPMAP-GIH 176IG0.875000000.12500000 1.000000000.937500000.06250000
HAPMAP-LWK 180IG0.300000010.600000020.100000000.020022000.600000020.40000001
HAPMAP-MEX 100IG0.779999970.180000010.040000000.150222000.870000000.13000000
HAPMAP-MKK 284IG0.535211270.415492950.049295780.317310000.742957770.25704226
HAPMAP-TSI 176IG0.818181810.159090910.022727270.250592000.897727250.10227273
ss97216256J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.307+/-0.2430000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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