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Reference SNP (refSNP) Cluster Report: rs2227264                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4814/58427 (ExAC)
T=0.4525/2266 (1000 Genomes)
T=0.4123/5363 (GO-ESP)
T=0.4384/55048 (TOPMED)
HGVS Names
  • CM000669.2:g.141790438G>A
  • CM000669.2:g.141790438G>T
  • NC_000007.13:g.141490238G>T
  • NC_000007.14:g.141790438G>A
  • NC_000007.14:g.141790438G>T
  • NM_018980.2:c.77G>A
  • NM_018980.2:c.77G>T
  • NP_061853.1:p.Ser26Asn
  • NP_061853.1:p.Ser26Ile
  • XP_005250070.1:p.Ser87Ile
Links
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 ss279562229 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2227264 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
ss3181517GENAISSANCE|GEN3200fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat07/19/0110/10/0398Genomicunknown
ss3196039YUSUKE|IMS-JST011961byFreqfwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat08/07/0111/22/0398Genomicunknown
ss17153311CSHL-HAPMAP|CSHL-HuAA-200402.chr7.NT_007914.13_2081790byFreqfwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat02/17/0410/26/06120Genomicunknown
ss24357222PERLEGEN|afd0465904byFreqfwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat08/10/0409/13/04123Genomicunknown
ss42892146ABI|hCV2638769byFreqfwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat07/18/0511/03/06126Genomicunknown
ss69030466PERLEGEN|PGP00465904byFreqfwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat01/30/0708/14/07127Genomicunknown
ss74810057AFFY|SNP_M-183211fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat08/09/0708/09/07128Genomicunknown
ss74861245ILLUMINA|ILMN_Human_1M_rs2227264fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat08/28/0708/29/07129Genomicunknown
ss77590916HGSV|Cor12156_SNV_20070510.chr7_140943422fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat10/09/0710/13/07129Genomicunknown
ss93779042BCMHGSC_JDW|JWB-2383884fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat02/26/0803/05/08129Genomicunknown
ss98345938HUMANGENOME_JCVI|1103652723096fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat03/31/0803/31/08130Genomicunknown
ss105578738BGI|BGI_rs2227264fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat09/10/0806/18/09130Genomicunknown
ss1125923551000GENOMES|CEU.trio.12.15.2008_1870059_chr7_141136707fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat12/17/0812/17/08130Genomicunknown
ss143026843ENSEMBL|ENSSNP6230806fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat06/05/0906/05/09131Genomicunknown
ss155602654GMI|GMI_SNP_47170160fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat06/24/0906/24/09131Genomicunknown
ss159715880SEATTLESEQ|TAS2R5-141136707fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat07/10/0907/10/09131Genomicunknown
ss160517042ILLUMINA|HumanOmni1-Quad_v1-0_B_rs2227264-128_T_R_1513895107rev/TA/Catccattctctaaaactccagaccaccaggttccatttccaattaaaccgatgagaaatt08/04/0910/02/09131Genomicunknown
ss162790346COMPLETE_GENOMICS|NA07022_36_chr7_141136707fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat09/28/0909/29/09132Genomicunknown
ss173191085ILLUMINA|Human1M-Duov3_B_rs2227264-128_T_R_1513895107rev/TA/Catccattctctaaaactccagaccaccaggttccatttccaattaaaccgatgagaaatt10/01/0910/03/09132Genomicunknown
ss198398637BUSHMAN|BUSHMAN-chr7-141136706fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat02/16/1003/06/10132Genomicunknown
ss208119587BCM-HGSC-SUB|BCM_CMT_1011-1505535fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat03/15/1003/19/10132Genomicunknown
ss2121277531000GENOMES|YRI.trio.3.2010_754517_chr7_141136707fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat03/29/1003/31/10132Genomicunknown
ss2233753371000GENOMES|pilot_1_YRI_5185020_chr7_141136707fwd/G/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat04/22/1004/22/10132Genomicunknown
ss2341992681000GENOMES|pilot_1_CEU_3803897_chr7_141136707fwd/G/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat05/01/1005/01/10132Genomicunknown
ss2411055421000GENOMES|pilot_1_CHB+JPT_2990619_chr7_141136707fwd/G/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat05/01/1005/01/10132Genomicunknown
ss279562229GMI|GMI_AK_SNP_3882476fwd/G/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat12/16/1012/16/10137Genomicunknown
ss285733579GMI|GMI_NA10851_SNP_1746352fwd/G/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat12/17/1012/17/10138Genomicunknown
ss293981010PJP|SNP_3487368_chr7_141136707fwd/G/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat01/21/1101/21/11134Genomicunknown
ss342248423NHLBI-ESP|ESP2500-chr7-141490238byFreqfwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat03/25/1109/05/14134Genomicunknown
ss480471120ILLUMINA|HumanOmni2.5-4v1_B_rs2227264-128_T_R_1513895107fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa01/30/1210/29/16137Genomicunknown
ss480485457ILLUMINA|HumanOmniExpress-12v1_C_rs2227264-131_T_R_1857156616fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa01/30/1210/27/16137Genomicunknown
ss481282421ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2227264-131_T_R_1857156616fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa01/30/1208/28/15146Genomicunknown
ss485033037ILLUMINA|HumanOmni2.5-4v1_D_rs2227264-131_T_R_1857156616fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa01/30/1210/28/16137Genomicunknown
ss4909558071000GENOMES|20110521_exome_463605_chr7_141490238fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat02/10/1202/21/12137Genomicunknown
ss491406719EXOME_CHIP|nonsyn_122945_chr_7_141490238fwd/BG/Taatttctcatcggtttaattggaaatggaacctggtggtctggagttttagagaatggat03/05/1203/05/12137Genomicunknown
ss491916346CLINSEQ_SNP|SNV-chr7-141136707byFreqfwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/06/1209/05/14137Genomicunknown
ss537057225ILLUMINA|HumanOmni5-4v1_B_rs2227264-131_T_R_1893170690fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa06/22/1208/29/15146Genomicunknown
ss560355482TISHKOFF|snp_chr7_141490238fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa11/22/1211/23/12138Genomicunknown
ss654768465SSMP|7_141490238fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa12/14/1202/11/15138Genomicunknown
ss778859638ILLUMINA|HumanOmni25Exome-8v1_A_rs2227264-131_T_R_1857156616fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/30/1307/10/15146Genomicunknown
ss780865036ILLUMINA|HumanOmni25Exome-8v1_A_exm663234-0_B_F_1918535837fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/30/1307/10/15146Genomicunknown
ss782962765ILLUMINA|HumanOmni2.5-4v1_H_rs2227264-131_T_R_1857156616fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/30/1307/29/15146Genomicunknown
ss783549676ILLUMINA|HumanOmniExpressExome-8v1_A_exm663234-0_B_F_1918535837fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/31/1306/19/15146Genomicunknown
ss783924837ILLUMINA|HumanOmniExpressExome-8v1_A_rs2227264-131_T_R_1893170690fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/31/1306/19/15146Genomicunknown
ss832219002ILLUMINA|HumanOmniExpress-12v1_H_rs2227264-131_T_R_1857156616fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa09/17/1306/19/15146Genomicunknown
ss834320405ILLUMINA|HumanOmni2.5-8v1_A_rs2227264-131_T_R_1857156616fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa09/18/1307/29/15146Genomicunknown
ss974466183JMKIDD_LAB|KhoeSan_Exomes_chr7_141490238fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/06/1403/06/14142Genomicunknown
ss984890154EVA-GONL|EVA-GONL_rs2227264fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa04/23/1404/24/14142Genomicunknown
ss1067492929JMKIDD_LAB|HGDP_exomes_chr7_141490238fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa07/09/1407/09/14142Genomicunknown
ss1075048244JMKIDD_LAB|HGDP_WGS_chr7_141490238fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa07/10/1407/11/14142Genomicunknown
ss13274823131000GENOMES|PHASE3_V1_39747347fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa08/16/1408/16/14142Genomicunknown
ss1397508432HAMMER_LAB|HAMMER_LAB_rs2227264fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa09/30/1407/15/15146Genomicunknown
ss1431304864DDI|DDI_rs2227264fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa11/04/1411/05/14144Genomicunknown
ss1582435982EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2227264fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa02/19/1502/20/15144Genomicunknown
ss1584055528EVA_FINRISK|EVA_FINRISK_rs2227264fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa02/27/1502/27/15144Genomicunknown
ss1594480003EVA_DECODE|EVA_DECODE_7_141136707_1088199_rs2227264fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/02/1503/03/15144Genomicunknown
ss1619402831EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_7_141490238_22007367fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/04/1503/04/15144Genomicunknown
ss1619402832EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_7_141490238_22007368fwd/A/Gctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/04/1503/04/15144Genomicunknown
ss1662396864EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_7_141490238_22007367fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/04/1503/04/15144Genomicunknown
ss1662396865EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_7_141490238_22007368fwd/A/Gctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/04/1503/04/15144Genomicunknown
ss1688981431EVA_EXAC|EVA_EXAC_4062534fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/04/1503/04/15144Genomicunknown
ss1688981432EVA_EXAC|EVA_EXAC_4062535fwd/A/Gctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/04/1503/04/15144Genomicunknown
ss1711182582EVA_MGP|EVA_XIMO_298342fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/09/1503/09/15144Genomicunknown
ss1712993804EVA_SVP|EVA_SVP_688171fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/12/1503/12/15144Genomicunknown
ss1752668255ILLUMINA|OmniExpressExome-8v1-1_B_exm663234-0_B_F_1918535837fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/27/1506/09/15146Genomicunknown
ss1752668256ILLUMINA|OmniExpressExome-8v1-1_B_rs2227264-131_T_R_1893170690fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/27/1506/09/15146Genomicunknown
ss1805259741HAMMER_LAB|Hsieh_4273191fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa07/15/1507/16/15146Genomicunknown
ss1917823043ILLUMINA|HumanExome-12v1-1_B_exm663234-0_B_F_1918535837fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa10/16/1510/16/15147Genomicunknown
ss1928145189WEILL_CORNELL_DGM|SNV:chr7:141490238fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa10/16/1510/17/15147Genomicunknown
ss1946222809ILLUMINA|HumanCoreExome-12v1-0_C_exm663234-0_B_F_1918535837fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa10/29/1510/29/15147Genomicunknown
ss1946222810ILLUMINA|HumanCoreExome-12v1-0_C_rs2227264-131_T_R_1893170690fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa10/29/1510/29/15147Genomicunknown
ss1959058167ILLUMINA|exm663234-0_B_F_1918535837fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa11/13/1511/13/15147Genomicunknown
ss1959058168ILLUMINA|rs2227264-131_T_R_1893170690fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa11/13/1511/13/15147Genomicunknown
ss1970835517GENOMED|rs2227264fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa02/16/1602/16/16147Genomicunknown
ss2024762159JJLAB|SNP5264714fwd/BG/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa08/29/1608/30/16149Genomicunknown
ss2152984945USC_VALOUEV|NC_000007.13:g.141490238G>Tfwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa11/17/1611/17/16150Genomicunknown
ss2298581403HUMAN_LONGEVITY|HLI-7-141790438-G-A,Tfwd/A/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa11/18/1611/18/16150Genomicunknown
ss2468074875TOPMED|7_141490238_G/Tfwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa11/20/1611/20/16150Genomicunknown
ss2626868236SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3367493fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa01/06/1701/06/17151Genomicunknown
ss2634670926ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2227264-131_T_R_18931706fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa02/02/1702/02/17151Genomicunknown
ss2708707493GRF|rs2227264fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa02/13/1702/13/17151Genomicunknown
ss2711123274ILLUMINA|Consortium-OncoArray_15047405_A_rs2227264-131_T_R_1893170690fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa03/22/1703/22/17151Genomicunknown
ss2736821976GNOMAD|exomes_rs2227264fwd/A/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/17/1705/17/17151Genomicunknown
ss2747940460GNOMAD|coding_rs2227264fwd/A/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/17/1705/17/17151Genomicunknown
ss2860102611GNOMAD|rs2227264fwd/A/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/19/1705/19/17151Genomicunknown
ss2985423060AFFY|Axiom_PsorMich_Affx-29852360fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/24/1705/24/17151Genomicunknown
ss3002176425SWEGEN|NC_000007.13:g.141490238G>Tfwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa05/30/1705/30/17151Genomicunknown
ss3022787028ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm663234-0_B_F_1918535837fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa06/28/1706/28/17151Genomicunknown
ss3022787029ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs2227264-138_T_R_2269115911fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa06/28/1706/28/17151Genomicunknown
ss3023063639EVA_SAMSUNG_MC|EXOMES.7:g141490238g>tfwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa07/03/1707/03/17151Genomicunknown
ss3026170169BIOINF_KMB_FNS_UNIBA|7.141790438G>Tfwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa07/05/1707/05/17151Genomicunknown
ss3347883295CSHL|rs2227264fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa10/02/1710/02/17151Genomicunknown
ss3546702985TOPMED|TOPMed_freeze_5?chr7:141,790,438-01fwd/A/Gctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa10/06/1710/06/17151Genomicunknown
ss3546702986TOPMED|TOPMed_freeze_5?chr7:141,790,438-02fwd/G/Tctcatcggtttaattggaaatggaacctggtggtctggagttttagagaa10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2227264|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 CCCAGTGTTC TTTTCATGAA AATAAAATTT CTTTTTTTAT ATAGCATATG AGCTCATAAC
 TGGCACTGTA TAGCACCTGA GCATGTTTTG ATTTGGTCTT TCTTGTTGAG GGGCCTTGTT
 ACGTTATACC CTGGTGTCTA GACTTTGGCC CAAAACCTTT GAGATGGAGA GCCGGTGTCT
 GTGGTACTGT TTGCAATCTC TGGTTCTACA CTCAGGGTTC ATTCATGTAG ATGCAAATAC
 AGATGGTATC ATAACTTCCA ACCTCTCTGT TCCTCATCAC AGCTGTTCAG TCTCGCTTGA
 AGACAGATTA CGGAAGGACG AGGCCAAATC CAGATTTTGT GGTGTGAAAA TTTACCCTGG
 TGTGTTATCA CTACCAGGGG ATCTGACCTC AGCCAGGAGC AGTGAGAGCC TCCTCTCCCC
 AGCCATGCTG AGCGCTGGCC TAGGACTGCT GATGCTGGTG GCAGTGGTTG AATTTCTCAT
 CGGTTTAATT GGAAATGGAA
 D
 CCTGGTGGTC TGGAGTTTTA GAGAATGGAT CAGAAAATTC AACTGGTCCT CATATAACCT
 CATTATCCTG GGCCTGGCTG GCTGCCGATT TCTCCTGCAG TGGCTGATCA TTTTGGACTT
 AAGCTTGTTT CCACTTTTCC AGAGCAGCCG TTGGCTTCGC TATCTTAGTA TCTTCTGGGT
 CCTGGTAAGC CAGGCCAGCT TATGGTTTGC CACCTTCCTC AGTGTCTTCT ATTGCAAGAA
 GATCACGACC TTCGATCGCC CGGCCTACTT GTGGCTGAAG CAGAGGGCCT ATAACCTGAG
 TCTCTGGTGC CTTCTGGGCT ACTTTATAAT CAATTTGTTA CTTACAGTCC AAATTGGCTT
 AACATTCTAT CATCCTCCCC AAGGAAACAG CAGCATTCGG TATCCCTTTG AAAGCTGGCA
 GTACCTGTAT GCATTTCAGC TCAATTCAGG AAGTTATTTG CCTTTAGTGG TGTTTCTTGT
 TTCCTCTGGG ATGCTGATTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007914 ABBA01034110
dbSNP Blast Analysis
UniGene Cluster ID
512616

  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.
SourceG
G/G
G/T
N
T
T/T
HWPA
G
N
T
ss1327482313EAS 1008AF 0.29859999 0.70140004
EUR 1006AF 0.53280002 0.46720001
AFR 1322AF 0.79349995 0.20650001
AMR 694AF 0.43520001 0.56479996
SAS 978AF 0.56650001 0.43350002
ss143026843ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss162790346CEUEuropean 2IG 1.00000000 0.50000000 0.50000000
ss1688981431ExAc_Aggregated_Populations121406AF 0.51866466 0.48133534
ss1688981432ExAc_Aggregated_Populations 62975AF 0.000095280.99990475
ss17153311CHMJAsian 74IG0.28378379 0.027027030.68918920 0.283783790.027027030.68918920
ss223375337pilot_1_YRI_low_coverage_panel 118AF 0.81355929 0.18644068
ss234199268pilot_1_CEU_low_coverage_panel 120AF 0.52499998 0.47499999
ss241105542pilot_1_CHB+JPT_low_coverage_panel 120AF 0.26666668 0.73333335
ss24357222AFD_EUR_PANELEuropean 48IG 0.125000000.58333331 0.291666660.34278200 0.41666666 0.58333331
AFD_AFR_PANELAfrican American 46IG 0.521739130.47826087 0.34278200 0.76086956 0.23913044
AFD_CHN_PANELAsian 48IG 0.041666670.41666666 0.541666690.65472100 0.25000000 0.75000000
ss3196039JBIC-allele 726AF 0.28900000 0.71099997
ss342248423ESP_Cohort_Populations 4548GF 0.373790680.45602462 0.170184700.02505600 0.60180300 0.39819700
ss42892146HapMap-CEUEuropean 226IG 0.247787610.57522124 0.176991150.09972100 0.53539824 0.46460176
HapMap-HCBAsian 86IG 0.046511630.48837209 0.465116290.25059200 0.29069766 0.70930231
HapMap-JPTAsian 172IG 0.069767450.43023255 0.500000000.65472100 0.28488371 0.71511626
HapMap-YRISub-Saharan African 226IG 0.637168170.33628318 0.026548670.47950000 0.80530971 0.19469027
HAPMAP-ASW 98IG 0.448979590.51020408 0.040816330.15022200 0.70408165 0.29591838
HAPMAP-CHBAsian 82IG 0.024390240.63414633 0.341463420.01002800 0.34146342 0.65853661
HAPMAP-CHD 170IG 0.094117650.42352942 0.482352941.00000000 0.30588236 0.69411767
HAPMAP-GIH 176IG 0.306818190.51136363 0.181818190.75183000 0.56250000 0.43750000
HAPMAP-LWK 180IG 0.611111100.36666667 0.022222220.25059200 0.79444444 0.20555556
HAPMAP-MEX 100IG 0.220000000.44000000 0.340000000.47950000 0.44000000 0.56000000
HAPMAP-MKK 286IG 0.433566420.41958043 0.146853150.31731000 0.64335662 0.35664335
HAPMAP-TSI 176IG 0.238636360.55681819 0.204545450.29426600 0.51704544 0.48295453
ss491916346CSAgilent 1280GF 0.232232210.47747746 0.290290300.29426600 0.47097096 0.52902901
ss69030466HapMap-CEUEuropean 120IG 0.183333340.63333333 0.183333340.05004300 0.50000000 0.50000000
HapMap-HCBAsian 90IG 0.044444450.46666667 0.488888890.29426600 0.27777779 0.72222221
HapMap-JPTAsian 90IG 0.044444450.44444445 0.511111140.37109300 0.26666668 0.73333335
HapMap-YRISub-Saharan African 120IG 0.616666670.36666667 0.016666670.27332200 0.80000001 0.20000000
ss98345938J. Craig Venter 2IG 1.00000000 0.50000000 0.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.499+/-0.0190000

  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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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