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Reference SNP (refSNP) Cluster Report: rs10069397                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
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=0.2710/1357 (1000 Genomes)
T=0.3608/45301 (TOPMED)
HGVS Names
  • CM000667.2:g.66487881T>C
  • NC_000005.9:g.65783709T>C
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 ss13921710 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10069397 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
ss13921710WI_SSAHASNP|chr5.NT_006431.13_16348451byFreqfwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca11/05/0310/21/04119Genomicunknown
ss20249066CSHL-HAPMAP|CSHL-HuFF-200402.chr5.NT_006431.13_16348451fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca02/21/0403/04/04120Genomicunknown
ss22257239SSAHASNP|WGSA-200403-chr5.chr5.NT_006431.13_16348451fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca03/21/0403/21/04121Genomicunknown
ss44604196ABI|hCV11225786fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca07/19/0507/19/05126Genomicunknown
ss66696774ILLUMINA|HumanHap300v1.1_rs10069397fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca11/09/0611/09/06127Genomicunknown
ss66867597ILLUMINA|HumanHap550v1.1_rs10069397fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca11/14/0611/14/06127Genomicunknown
ss66941166ILLUMINA|HumanHap650Yv1.0_rs10069397fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca11/14/0611/14/06127Genomicunknown
ss70357795ILLUMINA|HumanHap300v2.0_rs10069397fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca04/18/0711/17/07127Genomicunknown
ss70463026ILLUMINA|HumanHap550v3.0__rs10069397rev/TA/Gtggcattcaagaagcaaggtggaggaagggcccaagggcttcagaattcagtgttttcaa04/20/0703/29/08130Genomicunknown
ss70984003ILLUMINA|HumanHap650Yv3.0_rs10069397fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca04/23/0704/23/07127Genomicunknown
ss75652103ILLUMINA|ILMN_Human_1M_rs10069397fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca08/28/0708/29/07129Genomicunknown
ss83837203HGSV|Cor18956_SNV_20070510.chr5_65819465fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca11/30/0712/05/07130Genomicunknown
ss84899100KRIBB_YJKIM|KHS842436fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca12/04/0712/08/07130Genomicunknown
ss93124097BCMHGSC_JDW|JWB-1988393fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca02/26/0803/03/08129Genomicunknown
ss98729972HUMANGENOME_JCVI|1103654122322fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca04/01/0804/01/08130Genomicunknown
ss105928346BGI|BGI_rs10069397fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca09/12/0806/18/09130Genomicunknown
ss1090988321000GENOMES|CEU.trio.12.15.2008_1280033_chr5_65819465fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca12/16/0812/16/08130Genomicunknown
ss1119519441000GENOMES|NA19240_2008_12_16_1146426_chr5_65819465fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca12/17/0812/17/08130Genomicunknown
ss116646990ILLUMINA-UK|NA18507_000084635_NCBI36.1_chr5_65819465fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca01/17/0901/17/09130Genomic99 %
ss121259237ILLUMINA|HumanCNV370v1_C_rs10069397fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca04/14/0904/14/09131Genomicunknown
ss143684004ENSEMBL|ENSSNP9842123fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca12/08/0810/17/09131Genomicunknown
ss152558618ILLUMINA|Human610_Quadv1_B_rs10069397-127_T_R_1501591937rev/TA/Gtggcattcaagaagcaaggtggaggaagggcccaagggcttcagaattcagtgttttcaa06/18/0906/19/09131Genomicunknown
ss155535886GMI|GMI_SNP_113003691fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca06/24/0906/24/09131Genomicunknown
ss159106965ILLUMINA|Human660W-Quad_v1_A_rs10069397-128_T_R_1501591937rev/TA/Gtggcattcaagaagcaaggtggaggaagggcccaagggcttcagaattcagtgttttcaa07/06/0907/06/09131Genomicunknown
ss159858968ILLUMINA|HumanOmni1-Quad_v1-0_B_rs10069397-128_T_R_1501591937rev/TA/Gtggcattcaagaagcaaggtggaggaagggcccaagggcttcagaattcagtgttttcaa08/04/0910/01/09131Genomicunknown
ss165131039COMPLETE_GENOMICS|NA19240_36_chr5_65819465fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca09/29/0909/30/09132Genomicunknown
ss166640540COMPLETE_GENOMICS|NA20431_36_chr5_65819465fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca09/30/0909/30/09132Genomicunknown
ss169241002ILLUMINA|HumanCNV370-Quadv3_C_rs10069397-127_T_R_1501591937rev/TA/Gtggcattcaagaagcaaggtggaggaagggcccaagggcttcagaattcagtgttttcaa10/01/0910/02/09132Genomicunknown
ss169611633ILLUMINA|Human1M-Duov3_B_rs10069397-127_T_R_1501591937rev/TA/Gtggcattcaagaagcaaggtggaggaagggcccaagggcttcagaattcagtgttttcaa10/01/0910/01/09132Genomicunknown
ss200343273BUSHMAN|BUSHMAN-chr5-65819464fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca02/16/1003/07/10132Genomicunknown
ss207012293BCM-HGSC-SUB|BCM_CMT_1011-1136533fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca03/15/1003/18/10132Genomicunknown
ss2217203771000GENOMES|pilot_1_YRI_3530060_chr5_65819465fwd/C/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca04/22/1004/22/10132Genomicunknown
ss2329763571000GENOMES|pilot_1_CEU_2580986_chr5_65819465fwd/C/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca05/01/1005/01/10132Genomicunknown
ss2401422721000GENOMES|pilot_1_CHB+JPT_2027349_chr5_65819465fwd/C/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca05/01/1005/01/10132Genomicunknown
ss253510298BL|SNP73491_5_65819465fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca08/18/1008/18/10134Genomicunknown
ss278321160GMI|GMI_AK_SNP_2641399fwd/C/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca12/16/1012/16/10137Genomicunknown
ss285191535GMI|GMI_NA10851_SNP_1204308fwd/C/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca12/17/1012/17/10138Genomicunknown
ss293372656PJP|SNP_2879014_chr5_65819465fwd/C/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca01/21/1101/21/11134Genomicunknown
ss479175914ILLUMINA|HumanOmni2.5-4v1_B_rs10069397-128_T_R_1777084007fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa01/30/1210/28/16137Genomicunknown
ss479177952ILLUMINA|HumanOmniExpress-12v1_C_rs10069397-131_T_R_1856998140fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa01/30/1210/27/16137Genomicunknown
ss479502357ILLUMINA|HumanOmni1-Quad_v1-0_C_rs10069397-131_T_R_1865282891fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa01/30/1208/28/15146Genomicunknown
ss484389047ILLUMINA|HumanOmni2.5-4v1_D_rs10069397-131_T_R_1856998140fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa01/30/1210/28/16137Genomicunknown
ss491367009EXOME_CHIP|.GWAS._83236_chr_5_65783709fwd/BC/Tttgaaaacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaatgcca03/05/1203/05/12137Genomicunknown
ss536572237ILLUMINA|HumanOmni5-4v1_B_rs10069397-131_T_R_1885472394fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa06/22/1208/29/15146Genomicunknown
ss558440080TISHKOFF|snp_chr5_65783709fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa11/22/1211/23/12138Genomicunknown
ss652310045SSMP|5_65783709fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa12/14/1202/10/15138Genomicunknown
ss778345996ILLUMINA|HumanOmni25Exome-8v1_A_rs10069397-131_T_R_1865282891fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/30/1307/09/15146Genomicunknown
ss780680286ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs10069397-131_T_R_1990486800fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/30/1307/09/15146Genomicunknown
ss782640853ILLUMINA|HumanOmni2.5-4v1_H_rs10069397-131_T_R_1856998140fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/30/1307/28/15146Genomicunknown
ss783353560ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs10069397-131_T_R_1990486800fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/31/1306/19/15146Genomicunknown
ss783610294ILLUMINA|HumanOmniExpressExome-8v1_A_rs10069397-131_T_R_1885472394fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/31/1306/19/15146Genomicunknown
ss825327526ILLUMINA|HumanCNV370v1_C_rs10069397-126_T_R_IFB1135976657:0fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa06/24/1311/21/14144Genomicunknown
ss831891039ILLUMINA|HumanOmniExpress-12v1_H_rs10069397-131_T_R_1856998140fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa09/17/1306/18/15146Genomicunknown
ss833800653ILLUMINA|HumanOmni2.5-8v1_A_rs10069397-131_T_R_1865282891fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa09/18/1307/28/15146Genomicunknown
ss981648789EVA-GONL|EVA-GONL_rs10069397fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa04/23/1404/24/14142Genomicunknown
ss1072691052JMKIDD_LAB|HGDP_WGS_chr5_65783709fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa07/10/1407/11/14142Genomicunknown
ss13154143121000GENOMES|PHASE3_V1_27166635fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa08/16/1408/16/14142Genomicunknown
ss1430368185DDI|DDI_rs10069397fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa11/04/1411/05/14144Genomicunknown
ss1581169580EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10069397fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa02/19/1502/20/15144Genomicunknown
ss1591167372EVA_DECODE|EVA_DECODE_5_65819465_498063_rs10069397fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa03/02/1503/03/15144Genomicunknown
ss1613056223EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_5_65783709_15024594fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa03/04/1503/04/15144Genomicunknown
ss1656050256EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_5_65783709_15024594fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa03/04/1503/04/15144Genomicunknown
ss1712769585EVA_SVP|EVA_SVP_463952fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa03/12/1503/12/15144Genomicunknown
ss1752581605ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs10069397-131_T_R_1990486800fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/27/1506/09/15146Genomicunknown
ss1752581606ILLUMINA|OmniExpressExome-8v1-1_B_rs10069397-131_T_R_1885472394fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/27/1506/09/15146Genomicunknown
ss1803618909HAMMER_LAB|Hsieh_2898500fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa07/15/1507/15/15146Genomicunknown
ss1917790280ILLUMINA|HumanExome-12v1-1_B_exm-rs10069397-131_T_R_1990486800fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa10/16/1510/16/15147Genomicunknown
ss1924903803WEILL_CORNELL_DGM|SNV:chr5:65783709fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa10/16/1510/17/15147Genomicunknown
ss1946145612ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs10069397-131_T_R_1990486800fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa10/29/1510/29/15147Genomicunknown
ss1946145613ILLUMINA|HumanCoreExome-12v1-0_C_rs10069397-131_T_R_1885472394fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa10/29/1510/29/15147Genomicunknown
ss1958791868ILLUMINA|exm-rs10069397-131_T_R_1990486800fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa11/13/1511/13/15147Genomicunknown
ss1958791869ILLUMINA|rs10069397-131_T_R_1885472394fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa11/13/1511/13/15147Genomicunknown
ss1970105600GENOMED|rs10069397fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa02/16/1602/16/16147Genomicunknown
ss2023057117JJLAB|SNP3559672fwd/BC/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa08/29/1608/30/16149Genomicunknown
ss2151212881USC_VALOUEV|NC_000005.9:g.65783709T>Cfwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa11/17/1611/17/16150Genomicunknown
ss2274360807HUMAN_LONGEVITY|HLI-5-66487881-T-Cfwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa11/18/1611/18/16150Genomicunknown
ss2442576801TOPMED|5_65783709_T/Cfwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa11/20/1611/20/16150Genomicunknown
ss2626025201SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV2280061fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa01/06/1701/06/17151Genomicunknown
ss2634287943ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs10069397-131_T_R_213fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa02/02/1702/02/17151Genomicunknown
ss2634287944ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs10069397-131_T_R_1885472fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa02/02/1702/02/17151Genomicunknown
ss2634287945ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs10069397-131_T_R_213fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa02/02/1702/02/17151Genomicunknown
ss2706758034GRF|rs10069397fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa02/13/1702/13/17151Genomicunknown
ss2825517098GNOMAD|rs10069397fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/18/1705/18/17151Genomicunknown
ss2985322812AFFY|Axiom_PsorMich_Affx-26847257fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/24/1705/24/17151Genomicunknown
ss2997061152SWEGEN|NC_000005.9:g.65783709T>Cfwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa05/30/1705/30/17151Genomicunknown
ss3022494048ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs10069397-131_T_R_1990486800fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa06/28/1706/28/17151Genomicunknown
ss3022494049ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs10069397-138_T_R_2268590233fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa06/28/1706/28/17151Genomicunknown
ss3025313064BIOINF_KMB_FNS_UNIBA|5.66487881T>Cfwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa07/05/1707/05/17151Genomicunknown
ss3346422846CSHL|rs10069397fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa10/02/1710/02/17151Genomicunknown
ss3466575519TOPMED|TOPMed_freeze_5?chr5:66,487,881fwd/C/Taacactgaattctgaagcccttgggcccttcctccaccttgcttcttgaa10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10069397|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 ACAAAGAATG CAAAATGGCA AAAATTGCTA TAAGATTTAA GGCAGATGGG TGGGGGTAAC
 TTATTAAACA GAGCCAAGAG GCTTCAACCC ACCTTTGTGC CTACAGAGGG GCAAGCCCAT
 CACTCCGAAA ACCCCAACAG CTTCAGGCCA TGTAGAAAAG CACGGGTGAG GCATGAGGGT
 GAAAACCAGG GGTGTTACTG AGAGAGCCTG GGTAATGTAA TGATTACcag cctttctcaa
 ctggggattc tacagaggat taaaccctgc agaaaatggt ttgaactact aatctctcat
 ttctcccaag gacggcacaa acttactgcc tgtctccatg catgggaggg aagtttattc
 attccctata atggatgcct tagcacatca gagctgaagc ctcttgcagc accccagctt
 cgaaggacCA GCTTCTTAGA AGGGCCGCCT GCCACTCTGA GTAGATACTG TTGAAAACAC
 TGAATTCTGA AGCCCTTGGG
 Y
 CCCTTCCTCC ACCTTGCTTC TTGAATGCCA GCAACAGGAT TTATACTCTG CTGAGGCAGA
 TTAAAAGATT CTTCCCTGGG GAGATTGAAG AACTACAGAG AAAAGACCTA CAAATACTGA
 TAGTGAAACC CTCCAGTTGA CAAGCCCTGC CCAGACCCCA agttttcaat caacatttta
 gagtctccct cttacatatg agtgtcaata gattgccaga ggtttgaagg agccatgggt
 gtgaaagaca aaggccaata tcagcaaata gaagaaaata aattccgagg cagcagagac
 aatgagaaat tgcaagcttt aaagtaactg ctaactaaaa gcctcagaga tacattgcat
 ccatgaaaca aaaagagTCA GAAATGTGTT GGATATAAAC GTTTCTGAag aacattttga
 acgtaaagtt gaggaaatct gctagaaaac aatagaaaaa aaggaaaata ggagaaaaaa
 aagaagaaaa ttagagaaTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006431 ABBA01048317
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
ss116646990YRI 2IG1.00000000 1.00000000
ss1315414312EAS 1008AF 0.907700000.09230000
EUR 1006AF 0.522899990.47709998
AFR 1322AF 0.798000040.20200001
AMR 694AF 0.671499970.32850000
SAS 978AF 0.704499960.29549998
ss13921710HapMap-CEUEuropean 224IG0.250000000.491071430.258928571.000000000.495535700.50446427
HapMap-HCBAsian 86IG0.930232580.06976745 1.000000000.965116260.03488372
HapMap-JPTAsian 172IG0.953488350.04651163 1.000000000.976744170.02325581
HapMap-YRISub-Saharan African 222IG0.675675690.306306300.018018020.402784000.828828810.17117117
HAPMAP-ASW 98IG0.510204080.387755100.102040820.654721000.704081650.29591838
HAPMAP-CHBAsian 82IG0.829268280.17073171 1.000000000.914634170.08536585
HAPMAP-CHD 170IG0.847058830.15294118 1.000000000.923529390.07647059
HAPMAP-GIH 176IG0.375000000.522727250.102272730.250592000.636363630.36363637
HAPMAP-LWK 180IG0.622222240.311111120.066666670.342782000.777777790.22222222
HAPMAP-MEX 98IG0.510204080.408163280.081632651.000000000.714285730.28571430
HAPMAP-MKK 280IG0.671428560.278571430.050000000.294266000.810714300.18928571
HAPMAP-TSI 176IG0.284090910.465909090.250000000.583882000.517045440.48295453
ss143684004ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss165131039YRISub-Saharan African 2IG1.00000000 1.00000000
ss166640540PGP 2IG1.00000000 1.00000000
ss221720377pilot_1_YRI_low_coverage_panel 118AF 0.813559290.18644068
ss232976357pilot_1_CEU_low_coverage_panel 120AF 0.500000000.50000000
ss240142272pilot_1_CHB+JPT_low_coverage_panel 120AF 0.949999990.05000000
ss98729972J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.395+/-0.2040000ALFRED: 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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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