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Reference SNP (refSNP) Cluster Report: rs10845279                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.4111/49849 (ExAC)
A=0.4231/2119 (1000 Genomes)
A=0.2659/3458 (GO-ESP)
A=0.3037/38140 (TOPMED)
HGVS Names
  • CM000674.2:g.10997112C>A
  • CM000674.2:g.10997112C>T
  • NC_000012.11:g.11149711C>A
  • NC_000012.12:g.10997112C>A
  • NC_000012.12:g.10997112C>T
  • NG_051254.1:g.6193G>A
  • NG_051254.1:g.6193G>T
  • NM_001291314.1:c.-125-23391G>A
  • NM_001291314.1:c.-125-23391G>T
  • NM_001291315.1:c.37-23391G>A
  • NM_001291315.1:c.37-23391G>T
  • NM_001316893.1:c.141-23391G>A
  • NM_001316893.1:c.141-23391G>T
  • NM_176889.3:c.764G>A
  • NM_176889.3:c.764G>T
  • NP_795370.2:p.Arg255Gln
  • NP_795370.2:p.Arg255Leu
  • NR_037918.2:n.478-23391G>A
  • NR_037918.2:n.478-23391G>T
  • NR_133575.1:n.372-23391G>A
  • NR_133575.1:n.372-23391G>T
  • NT_187658.1:g.195807C>A
  • NT_187658.1:g.195807C>T
  • NW_003571047.1:g.195818C>A
  • NW_003571050.1:g.195818C>A
  • NW_003571050.1:g.195818C>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 ss281274069 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10845279 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
ss16182054SC_SNP|NT_009714.16_3908685fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta11/18/0311/22/03120Genomicunknown
ss18522932SC_SNP|SC-CHR9-12_NA11321-200402.chr12.NT_009714.16_3908685fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta02/20/0403/04/04120Genomicunknown
ss18762744SC_SNP|SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_3908685fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta02/20/0403/04/04120Genomicunknown
ss20961520SSAHASNP|WGSA-200403-chr12.chr12.NT_009714.16_3908685fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta03/19/0403/19/04121Genomicunknown
ss40227755ABI|hCV31377067byFreqfwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta07/16/0511/02/06126Genomicunknown
ss66634339ILLUMINA|HumanHap300v1.1_rs10845279fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta11/09/0611/09/06127Genomicunknown
ss66904494ILLUMINA|HumanHap550v1.1_rs10845279fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta11/14/0611/14/06127Genomicunknown
ss67027850ILLUMINA|HumanHap650Yv1.0_rs10845279fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta11/14/0611/14/06127Genomicunknown
ss70381742ILLUMINA|HumanHap300v2.0_rs10845279fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta04/18/0711/18/07127Genomicunknown
ss70501981ILLUMINA|HumanHap550v3.0__rs10845279rev/BG/Ttaatcatatcgttttggaattttaagatgcaccaaaagaaattgtcttaatgctttgcca04/20/0703/30/08130Genomicunknown
ss71028040ILLUMINA|HumanHap650Yv3.0_rs10845279fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta04/23/0704/23/07127Genomicunknown
ss75532111ILLUMINA|ILMN_Human_1M_rs10845279fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta08/28/0708/29/07129Genomicunknown
ss85013220KRIBB_YJKIM|KHS874503fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta12/04/0712/08/07130Genomicunknown
ss97286305HUMANGENOME_JCVI|1103649367105fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttagaattccaaaacgatatgatta03/28/0803/28/08130Genomicunknown
ss106787099BGI|BGI_rs10845279fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttagaattccaaaacgatatgatta09/16/0810/21/09130Genomicunknown
ss1114829761000GENOMES|CEU.trio.12.15.2008_2677047_chr12_11040978fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta12/17/0812/17/08130Genomicunknown
ss121400398ILLUMINA|HumanCNV370v1_C_rs10845279fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta04/14/0904/14/09131Genomicunknown
ss132063116ENSEMBL|ENSSNP667081fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta12/08/0810/14/09131Genomicunknown
ss152845334ILLUMINA|Human610_Quadv1_B_rs10845279-128_B_R_1501612739rev/BG/Ttaatcatatcgttttggaattttaagatgcaccaaaagaaattgtcttaatgctttgcca06/18/0906/19/09131Genomicunknown
ss157110074GMI|GMI_SNP_96765089fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta06/24/0906/25/09131Genomicunknown
ss159147031ILLUMINA|Human660W-Quad_v1_A_rs10845279-128_B_R_1501612739rev/BG/Ttaatcatatcgttttggaattttaagatgcaccaaaagaaattgtcttaatgctttgcca07/06/0907/06/09131Genomicunknown
ss159725710SEATTLESEQ|TAS2R49-11040978fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta07/10/0907/10/09131Genomicunknown
ss159928551ILLUMINA|HumanOmni1-Quad_v1-0_B_rs10845279-128_B_R_1501612739rev/BG/Ttaatcatatcgttttggaattttaagatgcaccaaaagaaattgtcttaatgctttgcca08/04/0910/01/09131Genomicunknown
ss167786905COMPLETE_GENOMICS|NA07022_36_chr12_11040978fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta09/30/0909/30/09132Genomicunknown
ss169661357ILLUMINA|HumanCNV370-Quadv3_C_rs10845279-128_B_R_1501612739rev/BG/Ttaatcatatcgttttggaattttaagatgcaccaaaagaaattgtcttaatgctttgcca10/01/0910/02/09132Genomicunknown
ss170400865COMPLETE_GENOMICS|NA20431_36_chr12_11040978fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta10/01/0910/05/09132Genomicunknown
ss170631687ILLUMINA|Human1M-Duov3_B_rs10845279-128_B_R_1501612739rev/BG/Ttaatcatatcgttttggaattttaagatgcaccaaaagaaattgtcttaatgctttgcca10/01/0910/01/09132Genomicunknown
ss203546856BUSHMAN|BUSHMAN-chr12-11040977fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta02/16/1003/09/10132Genomicunknown
ss2256053011000GENOMES|pilot_1_YRI_7414984_chr12_11040978fwd/A/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta04/22/1004/22/10132Genomicunknown
ss2358223421000GENOMES|pilot_1_CEU_5426971_chr12_11040978fwd/A/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta05/01/1005/01/10132Genomicunknown
ss2424014571000GENOMES|pilot_1_CHB+JPT_4286534_chr12_11040978fwd/A/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta05/01/1005/01/10132Genomicunknown
ss281274069GMI|GMI_AK_SNP_5594458fwd/A/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta12/16/1012/16/10137Genomicunknown
ss286505818GMI|GMI_NA10851_SNP_2518609fwd/A/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta12/17/1012/17/10138Genomicunknown
ss342349974NHLBI-ESP|ESP2500-chr12-11149711byFreqfwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta03/25/1109/05/14134Genomicunknown
ss479373379ILLUMINA|HumanOmni2.5-4v1_B_rs10845279-128_B_R_1764959694fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat01/30/1210/28/16137Genomicunknown
ss479376576ILLUMINA|HumanOmniExpress-12v1_C_rs10845279-131_B_R_1857159708fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat01/30/1210/27/16137Genomicunknown
ss479780049ILLUMINA|HumanOmni1-Quad_v1-0_C_rs10845279-131_B_R_1865391607fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat01/30/1208/28/15146Genomicunknown
ss484486820ILLUMINA|HumanOmni2.5-4v1_D_rs10845279-131_B_R_1857159708fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat01/30/1210/27/16137Genomicunknown
ss4910371001000GENOMES|20110521_exome_544898_chr12_11149711fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta02/10/1202/22/12137Genomicunknown
ss491464354EXOME_CHIP|nonsyn_180580_chr_12_11149711fwd/TA/Ctggcaaagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatatgatta03/05/1203/05/12137Genomicunknown
ss491660642CLINSEQ_SNP|SNV-chr12-11040978byFreqfwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat03/06/1209/05/14137Genomicunknown
ss536642751ILLUMINA|HumanOmni5-4v1_B_rs10845279-131_B_R_1893953803fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat06/22/1208/29/15146Genomicunknown
ss562992194TISHKOFF|snp_chr12_11149711fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat11/22/1211/23/12138Genomicunknown
ss658523781SSMP|12_11149711fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat12/14/1202/13/15138Genomicunknown
ss778688026ILLUMINA|HumanOmni25Exome-8v1_A_rs10845279-131_B_R_1865391607fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/30/1307/10/15146Genomicunknown
ss780908146ILLUMINA|HumanOmni25Exome-8v1_A_exm984281-0_T_F_1922519643fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/30/1307/10/15146Genomicunknown
ss782689947ILLUMINA|HumanOmni2.5-4v1_H_rs10845279-131_B_R_1857159708fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/30/1307/29/15146Genomicunknown
ss783595596ILLUMINA|HumanOmniExpressExome-8v1_A_exm984281-0_T_F_1922519643fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/31/1306/18/15146Genomicunknown
ss783658243ILLUMINA|HumanOmniExpressExome-8v1_A_rs10845279-131_B_R_1893953803fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/31/1306/18/15146Genomicunknown
ss825351296ILLUMINA|HumanCNV370v1_C_rs10845279-126_B_R_IFB1135524335:0fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat06/24/1311/21/14144Genomicunknown
ss831940905ILLUMINA|HumanOmniExpress-12v1_H_rs10845279-131_B_R_1857159708fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat09/17/1306/18/15146Genomicunknown
ss834146713ILLUMINA|HumanOmni2.5-8v1_A_rs10845279-131_B_R_1865391607fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat09/18/1307/29/15146Genomicunknown
ss989237360EVA-GONL|EVA-GONL_rs10845279fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat04/23/1404/25/14142Genomicunknown
ss1067531712JMKIDD_LAB|HGDP_exomes_chr12_11149711fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat07/09/1407/09/14142Genomicunknown
ss1078246119JMKIDD_LAB|HGDP_WGS_chr12_11149711fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat07/10/1407/12/14142Genomicunknown
ss13439097541000GENOMES|PHASE3_V1_56825429fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat08/16/1408/16/14142Genomicunknown
ss1397625640HAMMER_LAB|HAMMER_LAB_rs10845279fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat09/30/1409/30/14146Genomicunknown
ss1426843536DDI|DDI_rs10845279fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat11/04/1411/04/14144Genomicunknown
ss1576112908EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10845279fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat02/19/1502/19/15144Genomicunknown
ss1584080359EVA_FINRISK|EVA_FINRISK_rs10845279fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat02/27/1502/27/15144Genomicunknown
ss1598906630EVA_DECODE|EVA_DECODE_12_11040978_86051_rs10845279fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat03/02/1503/04/15144Genomicunknown
ss1628011341EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11149711_31435911fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat03/04/1503/04/15144Genomicunknown
ss1671005374EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11149711_31435911fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat03/04/1503/04/15144Genomicunknown
ss1690795219EVA_EXAC|EVA_EXAC_6012434fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat03/04/1503/04/15144Genomicunknown
ss1711321236EVA_MGP|EVA_XIMO_436996fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat03/09/1503/09/15144Genomicunknown
ss1713306827EVA_SVP|EVA_SVP_1001194fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat03/12/1503/12/15144Genomicunknown
ss1752046421ILLUMINA|OmniExpressExome-8v1-1_B_exm984281-0_T_F_1922519643fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/27/1506/09/15146Genomicunknown
ss1752046422ILLUMINA|OmniExpressExome-8v1-1_B_rs10845279-131_B_R_1893953803fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/27/1506/09/15146Genomicunknown
ss1807119918HAMMER_LAB|Hsieh_6140775fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat07/15/1507/16/15146Genomicunknown
ss1917870883ILLUMINA|HumanExome-12v1-1_B_exm984281-0_T_F_1922519643fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat10/16/1510/16/15147Genomicunknown
ss1932602908WEILL_CORNELL_DGM|SNV:chr12:11149711fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat10/16/1510/17/15147Genomicunknown
ss1946331630ILLUMINA|HumanCoreExome-12v1-0_C_exm984281-0_T_F_1922519643fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat10/29/1510/29/15147Genomicunknown
ss1959413362ILLUMINA|exm984281-0_T_F_1922519643fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat11/13/1511/13/15147Genomicunknown
ss1967522454GENOMED|rs10845279fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat02/16/1602/16/16147Genomicunknown
ss2027045966JJLAB|SNP7548521fwd/TA/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat08/29/1608/30/16149Genomicunknown
ss2155368694USC_VALOUEV|NC_000012.11:g.11149711C>Afwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat11/17/1611/17/16150Genomicunknown
ss2187770069HUMAN_LONGEVITY|HLI-12-10997112-C-Afwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat11/18/1611/18/16150Genomicunknown
ss2351407809TOPMED|12_11149711_C/Afwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat11/19/1611/19/16150Genomicunknown
ss2628001755SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4795772fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat01/06/1701/06/17151Genomicunknown
ss2632924843ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs10845279-131_B_R_1893953fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat02/02/1702/02/17151Genomicunknown
ss2699693759GRF|rs10845279fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat02/13/1702/13/17151Genomicunknown
ss2710754056ILLUMINA|Consortium-OncoArray_15047405_A_rs10845279-131_B_R_1893953803fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat03/22/1703/22/17151Genomicunknown
ss2739639255GNOMAD|exomes_rs10845279fwd/A/C/Taagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/17/1705/17/17151Genomicunknown
ss2748815232GNOMAD|coding_rs10845279fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/17/1705/17/17151Genomicunknown
ss2907331376GNOMAD|rs10845279fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/22/1705/22/17151Genomicunknown
ss2984968001AFFY|Axiom_PsorMich_Affx-6877589fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/24/1705/24/17151Genomicunknown
ss3009203920SWEGEN|NC_000012.11:g.11149711C>Afwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat05/30/1705/30/17151Genomicunknown
ss3023067418EVA_SAMSUNG_MC|EXOMES.12:g11149711c>afwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat07/03/1707/03/17151Genomicunknown
ss3027327554BIOINF_KMB_FNS_UNIBA|12.10997112C>Afwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat07/05/1707/05/17151Genomicunknown
ss3162930319TOPMED|TOPMed_freeze_5?chr12:10,997,112fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat09/30/1709/30/17151Genomicunknown
ss3349923131CSHL|rs10845279fwd/A/Caagcattaagacaatttcttttggtgcatcttaaaattccaaaacgatat10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10845279|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 ATAAAAAAAT GTGTGAAATA CACATGGGTT CATAATTCTG AGAAATTTCT TATCCTACTT
 TGGTATAACT GAACAGTTTA TATGAAAAGT TGATTAAAGG TATGTTATGG TAAATATTAA
 ATTTTCATAT ACATTCAGAC ATACACACAC ACGCAAATGT ATATTATATA TATATACTTT
 TATATAATAA ACTTAGGTAA AAGACTTTTC TATGTCAACT TTTGGAAATT ACTCAAATAC
 ATAGACTACG GAAAAACTTG TGGGAAATAT AAAATGTTCC AGACACCATC AATTTGTTTT
 CTGCTAGAAA ACACACAATG CACCTCTTGT GAATCTATGG AGTTGACTGG TTCTGTCCTT
 TTGCCCAGCA AGTCACCTGC CACAAAACTG AAAGAAAGGT CTGCTTTAGC GTCTTGTTCC
 CCCAAATCAG AATGAATGAG TGGAATGATG GATATATGAT TCCAAAAGCT TGGCAAAGCA
 TTAAGACAAT TTCTTTTGGT
 H
 GCATCTTAAA ATTCCAAAAC GATATGATTA GACACAGAAA GTAAATGGCA AGTAATATGA
 GGAAGGAGGT CACAGTTTGC AGAGCTTTTA TGTGGATCTT GGTGCTGGGA TCTTGAGATC
 CTTTGCCATG GAGCTGCATC TTCTTCAGAT GTTTACACAG AGAGTAGATT AACAGCAGAA
 AAGATATCAG GGTCAGAGTG AATGGTATCA AGTTTGCTAG CATGGCTACA GTCAAGTTGG
 AAAGGTGCAT TGCATTCCTC AGTTTGATCT TCCAAGTTAC GTTTCCTTCA CATTCTTCTG
 TCCACACATT TATATACGTG TGTTTCATCA CAAGGTGACA AACCAAAAAG AACAAAGACC
 CCAACACTAT CACCAGAACT ACACTCTTAG CCTTCCTTTT TAAGTGATGA AAAATAAGTC
 TGGAGAAATT GACGATCTTG AGCAAATAAA ATATGCTGAG GCTAGTAGCA AGCCAGATGC
 TGAAATGATT GGTTACTGCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 ABBA01067808
dbSNP Blast Analysis
UniGene Cluster ID
504733

  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/C
C/C
HWPA
C
ss132063116ENSEMBL_Venter 2IG1.00000000 1.00000000
ss1343909754EAS 1008AF 0.755000000.24500000
EUR 1006AF 0.382700000.61729997
AFR 1322AF 0.065100000.93489999
AMR 694AF 0.384700030.61530000
SAS 978AF 0.633900050.36610001
ss167786905CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss1690795219ExAc_Aggregated_Populations121408AF 0.411126110.58887386
ss170400865PGP 2IG 1.00000000 0.500000000.50000000
ss203546856BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss225605301pilot_1_YRI_low_coverage_panel 118AF 0.059322030.94067794
ss235822342pilot_1_CEU_low_coverage_panel 120AF 0.341666670.65833336
ss242401457pilot_1_CHB+JPT_low_coverage_panel 120AF 0.741666670.25833333
ss342349974ESP_Cohort_Populations 4540GF0.078414100.335682810.585903110.001000000.246255500.75374448
ss40227755HapMap-CEUEuropean 224IG0.116071430.437500000.446428571.000000000.334821430.66517860
HapMap-HCBAsian 84IG0.523809550.404761910.071428571.000000000.726190450.27380952
HapMap-JPTAsian 172IG0.604651150.325581400.069767450.438578000.767441870.23255815
HapMap-YRISub-Saharan African 226IG 0.115044250.884955761.000000000.057522130.94247788
HAPMAP-ASW 98IG0.020408160.163265300.816326560.479500000.102040820.89795917
HAPMAP-CHBAsian 82IG0.585365830.365853670.048780491.000000000.768292670.23170732
HAPMAP-CHD 168IG0.583333310.333333340.083333340.317310000.750000000.25000000
HAPMAP-GIH 176IG0.477272720.386363630.136363640.250592000.670454560.32954547
HAPMAP-LWK 180IG 0.100000000.899999981.000000000.050000000.94999999
HAPMAP-MEX 100IG0.239999990.560000000.200000000.402784000.519999980.47999999
HAPMAP-MKK 286IG0.006993010.244755240.748251740.317310000.129370630.87062937
HAPMAP-TSI 176IG0.193181810.545454560.261363630.371093000.465909090.53409094
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss491660642CSAgilent 1319GF0.135000010.488999990.375999990.342782000.379500000.62049997
ss97286305J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.484+/-0.0870000ALFRED: 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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