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Reference SNP (refSNP) Cluster Report: rs2619566                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.4046/2026 (1000 Genomes)
G=0.2693/33818 (TOPMED)
HGVS Names
  • CM000665.2:g.2583254G>A
  • NC_000003.11:g.2624938G>A
  • NC_000003.12:g.2583254G>A
  • NG_012827.1:g.487692G>A
  • NM_001206955.1:c.55+11696G>A
  • NM_001350095.1:c.55+11696G>A
  • NM_175607.2:c.55+11696G>A
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 ss276982114 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2619566 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
ss3688136SC_JCM|AC022386.2_171121byFreqfwd/BC/Ttgtgaaatgctccctgttgaagtaacatattgctgcaatgagttgttatgtcaaccatgg09/24/0104/07/04100Genomicunknown
ss17756242CSHL-HAPMAP|CSHL-HuCC-200402.chr3.NT_022517.16_2564938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca02/19/0403/04/04120Genomicunknown
ss21919139SSAHASNP|WGSA-200403-chr3.chr3.NT_022517.16_2564938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca03/20/0403/20/04121Genomicunknown
ss23864595PERLEGEN|afd2323075byFreqrev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca08/10/0409/13/04123Genomicunknown
ss41957909ABI|hCV16036984byFreqrev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca07/17/0511/03/06126Genomicunknown
ss65951796AFFY|SNP_A-1725482rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt10/26/0610/26/06127Genomicunknown
ss66099165AFFY|SNP_A-1971378byFreqrev/TA/Gacaactcattgcagcaatatgttacttcaaca10/27/0608/14/07127Genomicunknown
ss66582716ILLUMINA|HumanHap300v1.1_rs2619566fwd/TC/Ttgtgaaatgctccctgttgaagtaacatattgctgcaatgagttgttatgtcaaccatgg11/09/0611/09/06127Genomicunknown
ss67264119ILLUMINA|HumanHap550v1.1_rs2619566fwd/BC/Ttgtgaaatgctccctgttgaagtaacatattgctgcaatgagttgttatgtcaaccatgg11/14/0611/14/06127Genomicunknown
ss67663723ILLUMINA|HumanHap650Yv1.0_rs2619566fwd/BC/Ttgtgaaatgctccctgttgaagtaacatattgctgcaatgagttgttatgtcaaccatgg11/14/0611/14/06127Genomicunknown
ss68849745PERLEGEN|PGP02323075byFreqrev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca01/30/0708/14/07127Genomicunknown
ss70742509ILLUMINA|HumanHap550v3.0__rs2619566rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca04/20/0703/30/08130Genomicunknown
ss71313678ILLUMINA|HumanHap650Yv3.0_rs2619566fwd/BC/Ttgtgaaatgctccctgttgaagtaacatattgctgcaatgagttgttatgtcaaccatgg04/23/0704/23/07127Genomicunknown
ss74950021ILLUMINA|ILMN_Human_1M_rs2619566fwd/BC/Ttgtgaaatgctccctgttgaagtaacatattgctgcaatgagttgttatgtcaaccatgg08/28/0708/29/07129Genomicunknown
ss76063729AFFY|AFFY_6_1M_SNP_A-1971378rev/TA/Gacaactcattgcagcaatatgttacttcaaca08/28/0708/29/07129Genomicunknown
ss79141259ILLUMINA|HumanHap300v2.0_rs2619566fwd/BC/Ttgtgaaatgctccctgttgaagtaacatattgctgcaatgagttgttatgtcaaccatgg04/18/0711/18/07130Genomicunknown
ss82725895HGSV|Cor19240_SNV_20070510.chr3_2599938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca11/30/0712/03/07130Genomicunknown
ss84063134KRIBB_YJKIM|KHS623610fwd/BC/Ttgtgaaatgctccctgttgaagtaacatattgctgcaatgagttgttatgtcaaccatgg12/04/0712/06/07130Genomicunknown
ss91968879BCMHGSC_JDW|JWB-1545722rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca02/26/0803/02/08129Genomicunknown
ss99069724HUMANGENOME_JCVI|1103656006172rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca04/02/0804/02/08130Genomicunknown
ss103886436BGI|BGI_rs2619566rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca06/07/0806/18/09131Genomicunknown
ss1111230041000GENOMES|CEU.trio.12.15.2008_627599_chr3_2599938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca12/17/0812/17/08130Genomicunknown
ss122071787ILLUMINA|HumanCNV370v1_C_rs2619566fwd/BC/Ttgtgaaatgctccctgttgaagtaacatattgctgcaatgagttgttatgtcaaccatgg04/14/0904/15/09131Genomicunknown
ss135360202ENSEMBL|ENSSNP2136093rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca12/08/0810/15/09131Genomicunknown
ss138678248ENSEMBL|ENSSNP5720082rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca05/18/0905/18/09131Genomicunknown
ss154224252ILLUMINA|Human610_Quadv1_B_rs2619566-128_T_R_1501735825rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca06/18/0906/20/09131Genomicunknown
ss159400775ILLUMINA|Human660W-Quad_v1_A_rs2619566-128_T_R_1501735825rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca07/06/0907/07/09131Genomicunknown
ss160564235ILLUMINA|HumanOmni1-Quad_v1-0_B_rs2619566-128_T_R_1501735825rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca08/04/0910/03/09131Genomicunknown
ss161894829COMPLETE_GENOMICS|NA07022_36_chr3_2599938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca09/28/0909/28/09132Genomicunknown
ss163011764COMPLETE_GENOMICS|NA19240_36_chr3_2599938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca09/29/0909/29/09132Genomicunknown
ss166028095COMPLETE_GENOMICS|NA20431_36_chr3_2599938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca09/30/0909/30/09132Genomicunknown
ss171322263ILLUMINA|HumanCNV370-Quadv3_C_rs2619566-128_T_R_1501735825rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca10/01/0910/03/09132Genomicunknown
ss172371767AFFY|GenomeWideSNP_5_SNP_A-1971378rev/TA/Gacaactcattgcagcaatatgttacttcaaca10/01/0910/02/09132Genomicunknown
ss173409990ILLUMINA|Human1M-Duov3_B_rs2619566-128_T_R_1501735825rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca10/01/0910/03/09132Genomicunknown
ss206023740BCM-HGSC-SUB|BCM_CMT_1011-574286rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca03/15/1003/17/10132Genomicunknown
ss209088518ILLUMINA|ALS_iSelect_272541_A_rs2619566-127_T_R_IFB1223188957rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca03/24/1003/24/10132Genomicunknown
ss2111236771000GENOMES|YRI.trio.3.2010_250408_chr3_2599938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca03/29/1003/30/10132Genomicunknown
ss2199364811000GENOMES|pilot_1_YRI_1746164_chr3_2599938rev/A/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca04/22/1004/22/10132Genomicunknown
ss2316757121000GENOMES|pilot_1_CEU_1280341_chr3_2599938rev/A/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca05/01/1005/01/10132Genomicunknown
ss2391157201000GENOMES|pilot_1_CHB+JPT_1000797_chr3_2599938rev/A/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca05/01/1005/01/10132Genomicunknown
ss252882872BL|SNP4903_3_2599938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca08/18/1008/18/10134Genomicunknown
ss276982114GMI|GMI_AK_SNP_1302323rev/A/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca12/16/1012/16/10137Genomicunknown
ss284579337GMI|GMI_NA10851_SNP_592108rev/A/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca12/17/1012/17/10138Genomicunknown
ss292781434PJP|SNP_2287792_chr3_2599938rev/A/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca01/21/1101/21/11134Genomicunknown
ss480619369ILLUMINA|HumanOmni2.5-4v1_B_rs2619566-128_T_R_1767517172rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt01/30/1210/28/16137Genomicunknown
ss480633973ILLUMINA|HumanOmniExpress-12v1_C_rs2619566-131_T_R_1857276722rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt01/30/1210/27/16137Genomicunknown
ss481471135ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2619566-131_T_R_1865053277rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt01/30/1208/28/15146Genomicunknown
ss485104780ILLUMINA|HumanOmni2.5-4v1_D_rs2619566-131_T_R_1857276722rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt01/30/1210/28/16137Genomicunknown
ss491334908EXOME_CHIP|.GWAS._51135_chr_3_2624938rev/TA/Gccatggttgacataacaactcattgcagcaatatgttacttcaacagggagcatttcaca03/05/1203/05/12137Genomicunknown
ss537109775ILLUMINA|HumanOmni5-4v1_B_rs2619566-131_T_R_1885472222rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt06/22/1208/28/15146Genomicunknown
ss556372030TISHKOFF|snp_chr3_2624938rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt11/22/1211/23/12138Genomicunknown
ss650036247SSMP|3_2624938rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt12/14/1202/10/15138Genomicunknown
ss778874379ILLUMINA|HumanOmni25Exome-8v1_A_rs2619566-131_T_R_1865053277rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/30/1307/09/15146Genomicunknown
ss780683729ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs2619566-131_T_R_1990490758rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/30/1307/09/15146Genomicunknown
ss782998676ILLUMINA|HumanOmni2.5-4v1_H_rs2619566-131_T_R_1857276722rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/30/1307/28/15142Genomicunknown
ss783357143ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs2619566-131_T_R_1990490758rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/31/1306/19/15146Genomicunknown
ss783959229ILLUMINA|HumanOmniExpressExome-8v1_A_rs2619566-131_T_R_1885472222rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/31/1306/19/15146Genomicunknown
ss825471777ILLUMINA|HumanCNV370v1_C_rs2619566-126_T_R_IFB1135089551:0rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt06/24/1311/21/14144Genomicunknown
ss832255702ILLUMINA|HumanOmniExpress-12v1_H_rs2619566-131_T_R_1857276722rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt09/17/1306/18/15144Genomicunknown
ss832912491ILLUMINA|Human660W-Quad_v1_C_rs2619566-131_T_R_1865053277rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt09/18/1307/02/15142Genomicunknown
ss833503321ILLUMINA|Human660W-Quad_v1_H_rs2619566-131_T_R_1865053277rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt09/18/1307/02/15142Genomicunknown
ss834335322ILLUMINA|HumanOmni2.5-8v1_A_rs2619566-131_T_R_1865053277rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt09/18/1307/28/15146Genomicunknown
ss978191216EVA-GONL|EVA-GONL_rs2619566rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt04/23/1404/23/14142Genomicunknown
ss1070112018JMKIDD_LAB|HGDP_WGS_chr3_2624938rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt07/10/1407/10/14142Genomicunknown
ss13025061281000GENOMES|PHASE3_V1_13711127rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt08/16/1408/16/14142Genomicunknown
ss1397326427HAMMER_LAB|HAMMER_LAB_rs2619566rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt09/30/1407/15/15146Genomicunknown
ss1429304578DDI|DDI_rs2619566rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt11/04/1411/04/14144Genomicunknown
ss1579811542EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2619566rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt02/19/1502/20/15144Genomicunknown
ss1587650122EVA_DECODE|EVA_DECODE_3_2599938_27748_rs2619566rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt03/02/1503/03/15144Genomicunknown
ss1606255140EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_3_2624938_7558410rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt03/04/1503/04/15144Genomicunknown
ss1649249173EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_3_2624938_7558410rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt03/04/1503/04/15144Genomicunknown
ss1712546981EVA_SVP|EVA_SVP_241526rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt03/12/1503/12/15144Genomicunknown
ss1752463713ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs2619566-131_T_R_1990490758rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/27/1506/09/15146Genomicunknown
ss1752463714ILLUMINA|OmniExpressExome-8v1-1_B_rs2619566-131_T_R_1885472222rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/27/1506/09/15146Genomicunknown
ss1798734554HAMMER_LAB|Hsieh_1449883rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt07/15/1507/15/15146Genomicunknown
ss1917762693ILLUMINA|HumanExome-12v1-1_B_exm-rs2619566-131_T_R_1990490758rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt10/16/1510/16/15147Genomicunknown
ss1921443598WEILL_CORNELL_DGM|SNV:chr3:2624938rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt10/16/1510/17/15147Genomicunknown
ss1946072671ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs2619566-131_T_R_1990490758rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt10/29/1510/29/15147Genomicunknown
ss1958528899ILLUMINA|exm-rs2619566-131_T_R_1990490758rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt11/13/1511/13/15147Genomicunknown
ss1969302719GENOMED|rs2619566rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt02/16/1602/16/16147Genomicunknown
ss2021271250JJLAB|SNP1773805rev/TA/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt08/29/1608/30/16149Genomicunknown
ss2149339206USC_VALOUEV|NC_000003.11:g.2624938G>Arev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt11/17/1611/17/16150Genomicunknown
ss2248487695HUMAN_LONGEVITY|HLI-3-2583254-G-Arev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt11/18/1611/18/16150Genomicunknown
ss2415521491TOPMED|3_2624938_G/Arev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt11/19/1611/19/16150Genomicunknown
ss2625134789SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV1113324rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt01/06/1701/06/17151Genomicunknown
ss2633900021ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs2619566-131_T_R_2131rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt02/02/1702/02/17151Genomicunknown
ss2633900022ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2619566-131_T_R_18854722rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt02/02/1702/02/17151Genomicunknown
ss2704694521GRF|rs2619566rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt02/13/1702/13/17151Genomicunknown
ss2788731362GNOMAD|rs2619566rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/18/1705/18/17151Genomicunknown
ss2985244621AFFY|Axiom_PsorMich_Affx-22103492rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/24/1705/24/17151Genomicunknown
ss2991711678SWEGEN|NC_000003.11:g.2624938G>Arev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt05/30/1705/30/17151Genomicunknown
ss3022203421ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs2619566-131_T_R_1990490758rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt06/28/1706/28/17151Genomicunknown
ss3024397183BIOINF_KMB_FNS_UNIBA|3.2583254G>Arev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt07/05/1707/05/17151Genomicunknown
ss3344847073CSHL|rs2619566rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt10/02/1710/02/17151Genomicunknown
ss3380848038TOPMED|TOPMed_freeze_5?chr3:2,583,254rev/A/Ggttgacataacaactcattgcagcaatatgttacttcaacagggagcatt10/03/1710/03/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2619566|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GTTTAACAAA TTGTTATTAA ATGAATGAAC AGTTATTTCA TTCATAAATT AATAAATAAA
 GAATGCGTAA ATATTTTCTG AGGAATTATA AGTTCTAGAG TTTAAAAAGT CATATCTTCT
 ACAAATATTC TTTGCCACTG TATCAAAAAC TGCATGGGCA TTCACCAAGT TCCCCAAAAC
 CACTATCTGA AATCTTTTGA CAAAGCCAAT CAAATACTAA AACACTCTTA ATAAAATTCA
 TTTTCATTTA TATAGAGCTT AGACATGTTA TAATGTAACT AGAAAACCAT TATCAAGTAT
 AATTCAGGAA GACATTCTCA CTATTTTGAT TCAAGTAAAT CAAACATTCC CAGTATCTGA
 AAGCACTTAG CCATGTGAAC TTGGGCAAAT GAATTAATCT TTTTGCTCTT CGGTTTTCTC
 ACCCTCCCCC AAGATAGGTT GGATGGGATG AGAAGACAAC TTTGACAATC TGTGAAATGC
 TCCCTGTTGA AGTAACATAT
 Y
 TGCTGCAATG AGTTGTTATG TCAACCATGG CCAGATCTTC AAAGCTCCTT AGAAAAGAGT
 AGAGCAAAGC TTTCTTCTCT AGCTCAAGTT TATCCTGAGT TGTTTGTTTT GACATTTGTT
 TCCATTCCAA GAGGAATGCA TTTCTAGTTT TGTTAGTTTT TTTCTGGTAT AGATGTCACG
 CATGTGGAAA CAATATAGTT GAAACTGGGG AGTTTAGATT GATTTTTGTC TCTTTTTACT
 TATGCAGCCC AAGCAACATA TATATTGCTG CATTCATACG TTTTAAATCT ATTTGACATC
 ATTCTTTCTT CAGATAGTCT TTCTCCATTA AACTGCTTTT TTTTTTTTTT GTATCAGAAC
 TCTTTTTAAA GCATTGGTCT GGGACATAAC CCTCAGGTAG GGGGAAGTTT AATTACTGAC
 TCAATATGGA TTTTTAATTT TGGCCACCAG GAGGTTTGGC AGGAAATGAA AAGATATCCT
 GCTTCCTAGG GATGCCAATC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022517 ABBA01020489 AC018842 AC022008 AC087093
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs2619566 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
ss1302506128EAS 1008AF 0.451400010.54859996
EUR 1006AF 0.119300000.88069999
AFR 1322AF 0.576399980.42360002
AMR 694AF 0.371800010.62819999
SAS 978AF 0.440699990.55930001
ss135360202ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 2IG 1.00000000 1.00000000
ss138678248ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss161894829CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss163011764YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss166028095PGP 2IG 1.00000000 1.00000000
ss219936481pilot_1_YRI_low_coverage_panel 118AF 0.627118650.37288135
ss231675712pilot_1_CEU_low_coverage_panel 120AF 0.108333330.89166665
ss23864595AFD_EUR_PANELEuropean 48IG 0.041666670.958333311.000000000.020833330.97916669
AFD_AFR_PANELAfrican American 46IG0.304347810.565217380.130434780.438578000.586956500.41304347
AFD_CHN_PANELAsian 48IG0.250000000.416666660.333333340.438578000.458333340.54166669
ss239115720pilot_1_CHB+JPT_low_coverage_panel 120AF 0.524999980.47499999
ss3688136AfAmAfrican American 10IG0.600000020.40000001 0.800000010.20000000
CaucasianEuropean 24IG 0.166666670.833333311.000000000.083333340.91666669
AsianAsian 12IG 0.500000000.50000000 0.250000000.75000000
CEPHEuropean 10IG 0.400000010.60000002 0.200000000.80000001
PDpanelGlobal 46IG0.304347810.304347810.391304340.099721000.456521750.54347825
ss41957909HapMap-CEUEuropean 226IG0.017699110.150442480.831858400.254213000.092920360.90707964
HapMap-HCBAsian 86IG0.093023260.604651150.302325580.099721000.395348850.60465115
HapMap-JPTAsian 172IG0.267441870.558139560.174418600.250592000.546511650.45348838
HapMap-YRISub-Saharan African 226IG0.347517730.453900690.198581560.342782000.588495550.41150442
HAPMAP-ASW 98IG0.283018860.396226410.320754710.150222000.500000000.50000000
HAPMAP-CHBAsian 82IG0.170731710.536585390.292682920.583882000.439024390.56097561
HAPMAP-CHD 170IG0.152941180.482352940.364705891.000000000.394117650.60588235
HAPMAP-GIH 176IG0.181818190.465909090.352272720.751830000.414772720.58522725
HAPMAP-LWK 180IG0.322222230.500000000.177777781.000000000.572222230.42777777
HAPMAP-MEX 100IG0.077922080.480519470.441558450.294266000.300000010.69999999
HAPMAP-MKK 286IG0.139860140.531468510.328671340.250592000.405594410.59440559
HAPMAP-TSI 176IG0.034090910.147727270.818181810.050043000.107954550.89204544
AX-AM 20IG0.100000000.300000010.600000020.583882000.250000000.75000000
AX-AT 20IG0.400000010.400000010.200000000.654721000.600000020.40000001
AX-ME 10IG0.200000000.80000001 0.600000020.40000001
CEU 120IG0.016666670.183333340.800000010.751830000.108333330.89166665
CHB 90IG0.088888890.622222240.288888900.050043000.400000010.60000002
CN-CC 52IG0.230769230.576923070.192307700.438578000.519230780.48076922
CN-GA 60IG0.066666670.533333360.400000010.294266000.333333340.66666669
CN-HM 52IG0.269230780.500000000.230769231.000000000.519230780.48076922
CN-JI 62IG0.225806440.451612890.322580640.654721000.451612890.54838711
CN-JN 58IG0.172413800.482758610.344827591.000000000.413793120.58620691
CN-SH 42IG0.333333340.476190480.190476191.000000000.571428600.42857143
CN-UG 52IG0.153846160.307692320.538461570.200325000.307692320.69230771
CN-WA 112IG0.214285720.482142870.303571431.000000000.455357130.54464287
ID-AL 38IG0.473684220.473684220.052631580.527089000.710526290.28947368
ID-DY 24IG0.083333340.750000000.166666670.099721000.458333340.54166669
ID-JA 68IG0.147058830.617647050.235294120.200325000.455882340.54411763
ID-JV 38IG0.315789460.526315810.157894730.751830000.578947370.42105263
ID-KR 34IG0.352941190.588235320.058823530.250592000.647058840.35294119
ID-LA 40IG0.400000010.349999990.250000000.250592000.574999990.42500001
ID-LE 38IG0.473684220.421052630.105263161.000000000.684210540.31578946
ID-ML 24IG 0.750000000.250000000.150222000.375000000.62500000
ID-MT 30IG0.266666680.666666690.066666670.150222000.600000020.40000001
ID-RA 34IG0.647058840.294117660.058823530.751830000.794117630.20588236
ID-SB 40IG0.200000000.550000010.250000000.654721000.474999990.52499998
ID-SO 38IG0.421052630.421052630.157894730.751830000.631578920.36842105
ID-SU 50IG0.280000000.479999990.239999991.000000000.519999980.47999999
ID-TB 40IG 0.750000000.250000000.050043000.375000000.62500000
ID-TR 40IG0.349999990.550000010.100000000.438578000.625000000.37500000
IN-DR 48IG0.125000000.500000000.375000000.751830000.375000000.62500000
IN-EL 32IG0.125000000.250000000.625000000.200325000.250000000.75000000
IN-IL 30IG 0.200000000.800000011.000000000.100000000.89999998
IN-NI 40IG0.150000010.550000010.300000010.583882000.425000010.57499999
IN-NL 28IG0.071428570.357142870.571428601.000000000.250000000.75000000
IN-SP 46IG0.086956520.347826090.565217380.654721000.260869560.73913044
IN-TB 46IG0.130434780.565217380.304347810.438578000.413043470.58695650
IN-WI 50IG0.280000000.479999990.239999991.000000000.519999980.47999999
IN-WL 28IG0.071428570.571428600.357142870.371093000.357142870.64285713
JP-ML 142IG0.253521110.366197170.380281690.050043000.436619730.56338030
JP-RK 98IG0.285714300.530612230.183673470.654721000.551020380.44897959
JPT 88IG0.386363630.500000000.113636370.654721000.636363630.36363637
KR-KR 180IG0.188888890.533333360.277777790.479500000.455555560.54444444
MY-BD 100IG0.440000000.479999990.080000000.479500000.680000010.31999999
MY-JH 100IG0.300000010.419999990.280000000.273322000.509999990.49000001
MY-KN 32IG0.187500000.375000000.437500000.438578000.375000000.62500000
MY-KS 60IG0.233333330.500000000.266666681.000000000.483333320.51666665
MY-MN 40IG0.150000010.600000020.250000000.371093000.449999990.55000001
MY-TM 98IG0.306122450.469387770.224489790.751830000.540816310.45918366
PI-AE 16IG0.625000000.37500000 0.812500000.18750000
PI-AG 16IG0.375000000.62500000 0.687500000.31250000
PI-AT 44IG0.545454560.318181810.136363640.273322000.704545440.29545453
PI-IR 14IG0.142857150.142857150.71428573 0.214285720.78571427
PI-MA 34IG0.058823530.529411790.411764710.402784000.323529420.67647058
PI-MW 38IG0.736842100.210526320.052631580.371093000.842105270.15789473
PI-UB 40IG0.200000000.500000000.300000011.000000000.449999990.55000001
PI-UI 40IG0.150000010.649999980.200000000.200325000.474999990.52499998
PI-UN 38IG0.263157900.578947370.157894730.479500000.552631560.44736841
SG-CH 60IG0.266666680.433333340.300000010.479500000.483333320.51666665
SG-ID 60IG0.100000000.600000020.300000010.200325000.400000010.60000002
SG-ML 60IG0.166666670.466666670.366666671.000000000.400000010.60000002
TH-HM 40IG0.349999990.200000000.449999990.010028000.449999990.55000001
TH-KA 40IG0.500000000.449999990.050000000.583882000.725000020.27500001
TH-LW 38IG0.315789460.421052630.263157900.527089000.526315810.47368422
TH-MA 36IG0.166666670.666666690.166666670.200325000.500000000.50000000
TH-MO 38IG0.105263160.631578920.263157900.200325000.421052630.57894737
TH-PL 36IG0.222222220.611111100.166666670.342782000.527777790.47222221
TH-PP 36IG0.222222220.388888900.388888900.402784000.416666660.58333331
TH-TK 36IG0.222222220.388888900.388888900.402784000.416666660.58333331
TH-TL 40IG0.150000010.550000010.300000010.583882000.425000010.57499999
TH-TN 36IG0.222222220.444444450.333333340.751830000.444444450.55555558
TH-TU 40IG0.400000010.349999990.250000000.250592000.574999990.42500001
TH-TY 36IG0.111111110.611111100.277777790.294266000.416666660.58333331
TH-YA 38IG0.157894730.473684220.368421051.000000000.394736860.60526317
TW-HA 96IG0.270833340.375000000.354166660.099721000.458333340.54166669
TW-HB 64IG0.218750000.437500000.343750000.583882000.437500000.56250000
YRI 120IG0.400000010.483333320.116666670.751830000.641666650.35833332
ss66099165HapMap-CEUEuropean 118IG0.016949150.169491530.813559290.583882000.101694910.89830506
HapMap-HCBAsian 90IG0.088888890.622222240.288888900.050043000.400000010.60000002
HapMap-JPTAsian 90IG0.400000010.488888890.111111110.654721000.644444470.35555556
HapMap-YRISub-Saharan African 120IG0.400000010.466666670.133333341.000000000.633333330.36666667
ss68849745HapMap-CEUEuropean 120IG0.016666670.183333340.800000010.751830000.108333330.89166665
HapMap-HCBAsian 90IG0.088888890.622222240.288888900.050043000.400000010.60000002
HapMap-JPTAsian 90IG0.400000010.488888890.111111110.654721000.644444470.35555556
HapMap-YRISub-Saharan African 120IG0.400000010.483333320.116666670.751830000.641666650.35833332
ss76063729ICMHP 6IG 1.00000000 1.00000000
ss99069724J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.482+/-0.0940000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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