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Reference SNP (refSNP) Cluster Report: rs792376                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.1370/686 (1000 Genomes)
A=0.1302/16349 (TOPMED)
HGVS Names
  • CM000679.2:g.57361195A>G
  • CM000679.2:g.57361195A>T
  • NC_000017.10:g.55438556A>G
  • NC_000017.11:g.57361195A>G
  • NC_000017.11:g.57361195A>T
  • NM_001322250.1:c.247-40184A>G
  • NM_001322250.1:c.247-40184A>T
  • NM_001322251.1:c.313-40184A>G
  • NM_001322251.1:c.313-40184A>T
  • NM_138962.3:c.313-40184A>G
  • NM_138962.3:c.313-40184A>T
  • NM_170721.1:c.301-40184A>G
  • NM_170721.1:c.301-40184A>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 ss1785005 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs792376 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
ss971090KWOK|OVLP-000804-517160fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag09/01/0010/10/0386Genomic99 %
ss1785005KWOK|OVLP-000925-429136byFreqfwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag10/05/0010/25/0687Genomic99 %
ss3634583SC_JCM|AC015883.3_91341fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag09/24/0110/10/03100Genomicunknown
ss6616796WI_SSAHASNP|NT_010783.11_9863496rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca02/12/0310/10/03111Genomicunknown
ss14301826BCM_SSAHASNP|chr17.NT_010783.14_14091834rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca11/05/0311/22/03119Genomicunknown
ss21426431SSAHASNP|WGSA-200403-chr17.chr17.NT_010783.14_14091834rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca03/19/0403/20/04121Genomicunknown
ss40813512ABI|hCV8732833rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca07/17/0507/17/05126Genomicunknown
ss66116242AFFY|SNP_A-2025889byFreqrev/TA/Gaaaatgtaactacttacctatcatcaactaga10/27/0608/14/07127Genomicunknown
ss66852763ILLUMINA|HumanHap300v1.1_rs792376fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag11/09/0611/09/06127Genomicunknown
ss67848500ILLUMINA|HumanHap550v1.1_rs792376fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag11/14/0611/14/06127Genomicunknown
ss68002217ILLUMINA|HumanHap650Yv1.0_rs792376fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag11/14/0611/15/06127Genomicunknown
ss70958789ILLUMINA|HumanHap550v3.0__rs792376fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag04/20/0703/31/08130Genomicunknown
ss71566779ILLUMINA|HumanHap650Yv3.0_rs792376fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag04/23/0704/23/07127Genomicunknown
ss75877017ILLUMINA|ILMN_Human_1M_rs792376fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag08/28/0708/29/07129Genomicunknown
ss76103195AFFY|AFFY_6_1M_SNP_A-2025889rev/TA/Gaaaatgtaactacttacctatcatcaactaga08/28/0708/30/07129Genomicunknown
ss79274997ILLUMINA|HumanHap300v2.0_rs792376fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag04/18/0711/18/07130Genomicunknown
ss83565013KRIBB_YJKIM|KHS491002fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag12/04/0712/05/07130Genomicunknown
ss85528072HGSV|Cor19129_SNV_20070510.chr17_52793555rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca12/06/0712/09/07130Genomicunknown
ss90624962BCMHGSC_JDW|JWB-1035125rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca02/26/0802/29/08129Genomicunknown
ss96551601HUMANGENOME_JCVI|1103645351686rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca03/26/0803/26/08130Genomicunknown
ss103353373BGI|BGI_rs792376rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca06/06/0806/18/09131Genomicunknown
ss1098353831000GENOMES|CEU.trio.12.15.2008_3416222_chr17_52793555rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca12/16/0812/16/08130Genomicunknown
ss1136633871000GENOMES|NA19240_2008_12_16_3074244_chr17_52793555rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca12/18/0812/18/08130Genomicunknown
ss118086929ILLUMINA-UK|NA18507_000059110_NCBI36.1_chr17_52793555rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca01/20/0901/20/09130Genomic99 %
ss122864121ILLUMINA|HumanCNV370v1_C_rs792376fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag04/14/0904/15/09131Genomicunknown
ss136540840ENSEMBL|ENSSNP1351970rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca12/08/0810/15/09131Genomicunknown
ss154456729ILLUMINA|Human610_Quadv1_B_rs792376-127_B_F_1501870148fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag06/18/0906/20/09131Genomicunknown
ss158121139GMI|GMI_SNP_65757400rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca06/24/0906/25/09131Genomicunknown
ss159631360ILLUMINA|Human660W-Quad_v1_A_rs792376-128_B_F_1501870148fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag07/06/0907/07/09131Genomicunknown
ss160929556ILLUMINA|HumanOmni1-Quad_v1-0_B_rs792376-128_B_F_1501870148fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag08/04/0910/05/09131Genomicunknown
ss168337768COMPLETE_GENOMICS|NA07022_36_chr17_52793555rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca09/30/0910/01/09132Genomicunknown
ss169879511COMPLETE_GENOMICS|NA19240_36_chr17_52793555rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca10/01/0910/01/09132Genomicunknown
ss171574861COMPLETE_GENOMICS|NA20431_36_chr17_52793555rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca10/01/0910/01/09132Genomicunknown
ss172369700ILLUMINA|HumanCNV370-Quadv3_C_rs792376-127_B_F_1501870148fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag10/01/0910/04/09132Genomicunknown
ss172515894AFFY|GenomeWideSNP_5_SNP_A-2025889rev/TA/Gaaaatgtaactacttacctatcatcaactaga10/01/0910/02/09132Genomicunknown
ss174621008ILLUMINA|Human1M-Duov3_B_rs792376-127_B_F_1501870148fwd/BC/Ttgttatcagtaggctctagttgatgataggtaagtagttacattttggggtactcaaaag10/01/0910/04/09132Genomicunknown
ss202642375BUSHMAN|BUSHMAN-chr17-52793554rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca02/16/1003/08/10132Genomicunknown
ss207832373BCM-HGSC-SUB|BCM_CMT_1011-2909495rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca03/15/1003/19/10132Genomicunknown
ss2275956491000GENOMES|pilot_1_YRI_9405332_chr17_52793555rev/A/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca04/22/1004/22/10132Genomicunknown
ss2372803171000GENOMES|pilot_1_CEU_6884946_chr17_52793555rev/A/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca05/01/1005/01/10132Genomicunknown
ss2435685191000GENOMES|pilot_1_CHB+JPT_5453596_chr17_52793555rev/A/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca05/01/1005/01/10132Genomicunknown
ss255707132BL|SNP57386_17_52793555rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca08/20/1008/20/10134Genomicunknown
ss282800266GMI|GMI_AK_SNP_7120685rev/A/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca12/16/1012/16/10137Genomicunknown
ss287196186GMI|GMI_NA10851_SNP_3208977rev/A/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca12/17/1012/17/10138Genomicunknown
ss291973325PJP|SNP_1479683_chr17_52793555rev/A/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca01/21/1101/21/11134Genomicunknown
ss481719959ILLUMINA|HumanOmni2.5-4v1_B_rs792376-128_B_F_1772835275rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga01/30/1210/28/16137Genomicunknown
ss481751381ILLUMINA|HumanOmniExpress-12v1_C_rs792376-131_B_F_1857428884rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga01/30/1210/27/16137Genomicunknown
ss482717362ILLUMINA|HumanOmni1-Quad_v1-0_C_rs792376-131_B_F_1865230940rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga01/30/1208/28/15146Genomicunknown
ss485654716ILLUMINA|HumanOmni2.5-4v1_D_rs792376-131_B_F_1857428884rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga01/30/1210/27/16137Genomicunknown
ss491525181EXOME_CHIP|.GWAS._241407_chr_17_55438556rev/TA/Gcttttgagtaccccaaaatgtaactacttacctatcatcaactagagcctactgataaca03/05/1203/06/12137Genomicunknown
ss537531651ILLUMINA|HumanOmni5-4v1_B_rs792376-131_B_F_1866835932rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga06/22/1208/29/15146Genomicunknown
ss565332508TISHKOFF|snp_chr17_55438556rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga11/22/1211/23/12138Genomicunknown
ss661141499SSMP|17_55438556rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga12/14/1202/14/15138Genomicunknown
ss778990981ILLUMINA|HumanOmni25Exome-8v1_A_rs792376-131_B_F_1866835932rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/30/1307/10/15146Genomicunknown
ss780686893ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs792376-131_B_F_1990485444rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/30/1307/10/15146Genomicunknown
ss783272916ILLUMINA|HumanOmni2.5-4v1_H_rs792376-131_B_F_1857428884rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/30/1307/29/15146Genomicunknown
ss783360433ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs792376-131_B_F_1990485444rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/31/1306/19/15146Genomicunknown
ss784226085ILLUMINA|HumanOmniExpressExome-8v1_A_rs792376-131_B_F_1866835932rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/31/1306/19/15146Genomicunknown
ss825605515ILLUMINA|HumanCNV370v1_C_rs792376-126_B_F_IFB1137749756:0rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga06/24/1311/21/14144Genomicunknown
ss832533970ILLUMINA|HumanOmniExpress-12v1_H_rs792376-131_B_F_1857428884rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga09/17/1306/18/15146Genomicunknown
ss834453235ILLUMINA|HumanOmni2.5-8v1_A_rs792376-131_B_F_1866835932rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga09/18/1307/29/15146Genomicunknown
ss993209854EVA-GONL|EVA-GONL_rs792376rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga04/23/1404/30/14142Genomicunknown
ss1081128444JMKIDD_LAB|HGDP_WGS_chr17_55438556rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga07/10/1407/12/14142Genomicunknown
ss13590511461000GENOMES|PHASE3_V1_72600525rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga08/16/1408/16/14142Genomicunknown
ss1397732511HAMMER_LAB|HAMMER_LAB_rs792376rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga09/30/1407/15/15146Genomicunknown
ss1428062614DDI|DDI_rs792376rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga11/04/1411/04/14144Genomicunknown
ss1578197803EVA_GENOME_DK|EVA_GENOME_DK_snv_rs792376rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga02/19/1502/19/15144Genomicunknown
ss1635852333EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_17_55438556_40070450rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga03/04/1503/04/15144Genomicunknown
ss1678846366EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_17_55438556_40070450rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga03/04/1503/04/15144Genomicunknown
ss1697256324EVA_DECODE|EVA_DECODE_17_52793555_382335_rs792376rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga03/02/1503/04/15144Genomicunknown
ss1713589685EVA_SVP|EVA_SVP_1284052rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga03/12/1503/12/15144Genomicunknown
ss1752232031ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs792376-131_B_F_1990485444rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/27/1506/09/15146Genomicunknown
ss1752232032ILLUMINA|OmniExpressExome-8v1-1_B_rs792376-131_B_F_1866835932rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/27/1506/09/15146Genomicunknown
ss1808825914HAMMER_LAB|Hsieh_7853647rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga07/15/1507/16/15146Genomicunknown
ss1917920480ILLUMINA|HumanExome-12v1-1_B_exm-rs792376-131_B_F_1990485444rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga10/16/1510/16/15147Genomicunknown
ss1936671035WEILL_CORNELL_DGM|SNV:chr17:55438556rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga10/16/1510/19/15147Genomicunknown
ss1946458395ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs792376-131_B_F_1990485444rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga10/29/1510/29/15147Genomicunknown
ss1946458398ILLUMINA|HumanCoreExome-12v1-0_C_rs792376-131_B_F_1866835932rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga10/29/1510/29/15147Genomicunknown
ss1959756788ILLUMINA|exm-rs792376-131_B_F_1990485444rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga11/13/1511/13/15147Genomicunknown
ss1959756790ILLUMINA|rs792376-131_B_F_1885473480rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga11/13/1511/13/15147Genomicunknown
ss1968410907GENOMED|rs792376rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga02/16/1602/16/16147Genomicunknown
ss2029111154JJLAB|SNP9613709rev/TA/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga08/29/1608/31/16149Genomicunknown
ss2157588926USC_VALOUEV|NC_000017.10:g.55438556A>Grev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga11/17/1611/17/16150Genomicunknown
ss2217642489HUMAN_LONGEVITY|HLI-17-57361195-A-Grev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga11/18/1611/18/16150Genomicunknown
ss2382808861TOPMED|17_55438556_A/Grev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga11/19/1611/19/16150Genomicunknown
ss2629051136SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6134779rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga01/06/1701/06/17151Genomicunknown
ss2633408717ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs792376-131_B_F_186683593rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga02/02/1702/02/17151Genomicunknown
ss2702150738GRF|rs792376rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga02/13/1702/13/17151Genomicunknown
ss2710854244ILLUMINA|Consortium-OncoArray_15047405_A_rs792376-131_B_F_2196887699rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga03/22/1703/22/17151Genomicunknown
ss2951038929GNOMAD|rs792376rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/23/1705/23/17151Genomicunknown
ss2985100400AFFY|Axiom_PsorMich_Affx-14077303rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/24/1705/24/17151Genomicunknown
ss3015702042SWEGEN|NC_000017.10:g.55438556A>Grev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga05/30/1705/30/17151Genomicunknown
ss3021791280ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs792376-131_B_F_1990485444rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga06/28/1706/28/17151Genomicunknown
ss3021791281ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs792376-138_B_F_2269472262rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga06/28/1706/28/17151Genomicunknown
ss3028378020BIOINF_KMB_FNS_UNIBA|17.57361195A>Grev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga07/05/1707/05/17151Genomicunknown
ss3265508121TOPMED|TOPMed_freeze_5?chr17:57,361,195-01rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga10/01/1710/01/17151Genomicunknown
ss3265508122TOPMED|TOPMed_freeze_5?chr17:57,361,195-02rev/A/Tgagtaccccaaaatgtaactacttacctatcatcaactagagcctactga10/01/1710/01/17151Genomicunknown
ss3351787555CSHL|rs792376rev/A/Ggagtaccccaaaatgtaactacttacctatcatcaactagagcctactga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs792376|allelePos=842|totalLen=1133|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 CAATCCCAGA GATAAATTCT GGCTTTTCCA GGAGACCTCA GTTTTATGTA TTTTCTAGAT
 TTTGACCAAA ATAATTTGTA GAAATATGTA AGAAAATGGA ATTCCATTTT TCTATCTTTG
 TAAGCCTGAC CATACACATA TATAAAATGA TCCAGGACAG GGCCTTAGGG CATGTGTTCC
 AATTTTGGGC TCAGAACGTA cagtcaaacc ttgaacaaca caagtgtaaa ccatgtgggt
 ccacttatat gtggattttc ttccacctct gcacccctga gacagcaaaa ccatccctct
 tcttccttct catcagccca ctcaatgtga agataacaag tctgaagtcc tttatgatga
 tccacttcca cttaaagaat agtaaatata ttttctcttc cttatgattt tccttttttt
 tttttttttt gagacaaggt cttgctctgt cacccaggct tgagtgcagt ggcatgatct
 tgcctcaatg taacctctgc atcctgggtt caagtcatcc tcccacctca gtatcctgag
 tagctgggac tacaggcatg agccaccatg cccaggctaa tttttttttt tttatttttt
 gtaaagacag ggtttcacca tgttatccag gctgtctcga acttctgagc tcagtccatc
 tgcccgcctt ggccttccaa agtactgggt ttacaagcat gagctactgc actcagccat
 gattttctta acattttctt ttgtctagct tactttattg taaaaatgca gtatataata
 catatataaa gcatgtgtaa tcaactgttg atgttatcag taggctctag ttgatgatag
 g
 H
 taagtagtta cattttgggg tactcaaaag ttatacgcag attttcaact gtgcaggggg
 gccgtaaccc ttgagttgtt caagtgtcaa cAACATATTA ACTGTGCACA ACATACCCCC
 CACTCAGTTC AGCTAGGATC CCTTCAGAAA GGAAGCAGAT GGGAGATACT CCTGACCTCC
 CCATATTCCG AGTTAATATT CCACTTGTTA CAATCCATAG CAAATTTTAT GGACAAGTTA
 TAACCGTCAG AATTAAGCAG CTCACACAGA AATCTGCATC TTCACCTTAA C

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010783 ABBA01041313 AC073839 AC073839.1
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs792376 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
ss118086929YRI 2IG 1.00000000 0.500000000.50000000
ss1359051146EAS 1008AF 0.809500040.19050001
EUR 1006AF 0.828000010.17199999
AFR 1322AF 0.894899960.10510000
AMR 694AF 0.926500020.07350000
SAS 978AF 0.866099950.13389999
ss136540840ENSEMBL_Venter 2IG1.00000000 1.00000000
ss168337768CEUEuropean 2IG1.00000000 1.00000000
ss169879511YRISub-Saharan African 2IG1.00000000 1.00000000
ss171574861PGP 2IG 1.00000000 0.500000000.50000000
ss1785005HapMap-CEUEuropean 224IG0.696428600.258928570.044642860.294266000.825892870.17410715
HapMap-HCBAsian 86IG0.604651150.325581400.069767450.583882000.767441870.23255815
HapMap-JPTAsian 170IG0.623529430.341176480.035294120.751830000.794117630.20588236
HapMap-YRISub-Saharan African 226IG0.814159270.176991150.008849561.000000000.902654890.09734514
HAPMAP-ASW 98IG0.816326560.18367347 1.000000000.908163250.09183674
HAPMAP-CHBAsian 82IG0.585365830.390243890.024390240.402784000.780487780.21951219
HAPMAP-CHD 166IG0.614457850.337349390.048192771.000000000.783132550.21686748
HAPMAP-GIH 176IG0.750000000.25000000 0.527089000.875000000.12500000
HAPMAP-LWK 180IG0.788888870.200000000.011111111.000000000.888888900.11111111
HAPMAP-MEX 100IG0.839999970.16000000 1.000000000.920000020.08000000
HAPMAP-MKK 286IG0.874125900.12587413 1.000000000.937062920.06293707
HAPMAP-TSI 176IG0.727272750.261363630.011363640.527089000.857954560.14204545
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss227595649pilot_1_YRI_low_coverage_panel 118AF 0.923728820.07627118
ss237280317pilot_1_CEU_low_coverage_panel 120AF 0.866666670.13333334
ss243568519pilot_1_CHB+JPT_low_coverage_panel 120AF 0.783333360.21666667
ss66116242HapMap-CEUEuropean 118IG0.779661000.186440680.033898310.250592000.872881350.12711865
HapMap-HCBAsian 90IG0.600000020.333333340.066666670.654721000.766666650.23333333
HapMap-JPTAsian 90IG0.622222240.333333340.044444451.000000000.788888870.21111111
HapMap-YRISub-Saharan African 120IG0.816666660.18333334 0.751830000.908333360.09166667
ss76103195ICMHP 8IG0.750000000.25000000 0.875000000.12500000
ss96551601J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.236+/-0.2500000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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