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Reference SNP (refSNP) Cluster Report: rs9388489                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.4481/2244 (1000 Genomes)
G=0.4414/55430 (TOPMED)
HGVS Names
  • CM000668.2:g.126377573A>G
  • CM000668.2:g.126377573A>T
  • NC_000006.11:g.126698719A>G
  • NC_000006.12:g.126377573A>G
  • NC_000006.12:g.126377573A>T
  • NR_104462.1:n.725+31255A>G
  • NR_104462.1:n.725+31255A>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 ss279016021 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9388489 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
ss12883016SC_SNP|NT_025741.12_30803148byFreqfwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac10/21/0310/25/06119Genomicunknown
ss15742776SC_SNP|NT_025741.13_30803148fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac11/17/0311/22/03120Genomicunknown
ss24482167PERLEGEN|afd0380216byFreqfwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac08/10/0409/13/04123Genomicunknown
ss66258921AFFY|SNP_A-4288925byFreqrev/BC/Tcactggctaaaaaatcaacaaggcatttaact10/27/0603/31/08127Genomicunknown
ss66790603ILLUMINA|HumanHap300v1.1_rs9388489fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac11/09/0611/09/06127Genomicunknown
ss67913349ILLUMINA|HumanHap550v1.1_rs9388489fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac11/14/0611/15/06127Genomicunknown
ss68040277ILLUMINA|HumanHap650Yv1.0_rs9388489fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac11/14/0611/15/06127Genomicunknown
ss71604946ILLUMINA|HumanHap650Yv3.0_rs9388489fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac04/23/0704/23/07127Genomicunknown
ss75788941ILLUMINA|ILMN_Human_1M_rs9388489fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac08/28/0708/29/07129Genomicunknown
ss76404058AFFY|AFFY_6_1M_SNP_A-4288925byFreqrev/BC/Tcactggctaaaaaatcaacaaggcatttaact08/28/0703/07/10130Genomicunknown
ss79295258ILLUMINA|HumanHap300v2.0_rs9388489fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac04/18/0711/18/07130Genomicunknown
ss84814438KRIBB_YJKIM|KHS818317fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac12/04/0712/08/07130Genomicunknown
ss93556438BCMHGSC_JDW|JWB-2215721byFreqfwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac02/26/0809/05/14129Genomicunknown
ss98254877ILLUMINA|HumanHap550v3.0__rs9388489rev/BC/Tgtacaacagactcacactggctaaaaaatcaacaaggcatttaactatcaccttctgcaa04/20/0703/31/08130Genomicunknown
ss98539362HUMANGENOME_JCVI|1103705002415fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac04/01/0804/01/08130Genomicunknown
ss106036495BGI|BGI_rs9388489fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac09/12/0806/19/09130Genomicunknown
ss1108847831000GENOMES|CEU.trio.12.15.2008_1619204_chr6_126740412fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac12/17/0812/17/08130Genomicunknown
ss122985194ILLUMINA|HumanCNV370v1_C_rs9388489fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac04/14/0904/15/09131Genomicunknown
ss139681089ENSEMBL|ENSSNP7795094fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac12/08/0810/16/09131Genomicunknown
ss144294857ENSEMBL|ENSSNP13136567fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac06/05/0906/06/09131Genomicunknown
ss154491602ILLUMINA|Human610_Quadv1_B_rs9388489-128_B_R_1501902873rev/BC/Tgtacaacagactcacactggctaaaaaatcaacaaggcatttaactatcaccttctgcaa06/18/0906/20/09131Genomicunknown
ss157568450GMI|GMI_SNP_44873802fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac06/24/0906/25/09131Genomicunknown
ss159665622ILLUMINA|Human660W-Quad_v1_A_rs9388489-128_B_R_1501902873rev/BC/Tgtacaacagactcacactggctaaaaaatcaacaaggcatttaactatcaccttctgcaa07/06/0907/07/09131Genomicunknown
ss160983558ILLUMINA|HumanOmni1-Quad_v1-0_B_rs9388489-128_B_R_1501902873rev/BC/Tgtacaacagactcacactggctaaaaaatcaacaaggcatttaactatcaccttctgcaa08/04/0910/05/09131Genomicunknown
ss162799203COMPLETE_GENOMICS|NA07022_36_chr6_126740412fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac09/28/0909/29/09132Genomicunknown
ss167249939COMPLETE_GENOMICS|NA20431_36_chr6_126740412fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac09/30/0909/30/09132Genomicunknown
ss172459033ILLUMINA|HumanCNV370-Quadv3_C_rs9388489-128_B_R_1501902873rev/BC/Tgtacaacagactcacactggctaaaaaatcaacaaggcatttaactatcaccttctgcaa10/01/0910/04/09132Genomicunknown
ss173486776AFFY|GenomeWideSNP_5_SNP_A-4288925rev/BC/Tcactggctaaaaaatcaacaaggcatttaact10/01/0910/03/09132Genomicunknown
ss174832941ILLUMINA|Human1M-Duov3_B_rs9388489-128_B_R_1501902873rev/BC/Tgtacaacagactcacactggctaaaaaatcaacaaggcatttaactatcaccttctgcaa10/01/0910/05/09132Genomicunknown
ss2119215291000GENOMES|YRI.trio.3.2010_650663_chr6_126740412fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac03/29/1003/31/10132Genomicunknown
ss2226637521000GENOMES|pilot_1_YRI_4473435_chr6_126740412fwd/A/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac04/22/1004/22/10132Genomicunknown
ss2336762151000GENOMES|pilot_1_CEU_3280844_chr6_126740412fwd/A/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac05/01/1005/01/10132Genomicunknown
ss2406931021000GENOMES|pilot_1_CHB+JPT_2578179_chr6_126740412fwd/A/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac05/01/1005/01/10132Genomicunknown
ss254700713BL|SNP146106_6_126740412fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac08/19/1008/19/10134Genomicunknown
ss279016021GMI|GMI_AK_SNP_3336262fwd/A/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac12/16/1012/16/10137Genomicunknown
ss293720477PJP|SNP_3226835_chr6_126740412fwd/A/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac01/21/1101/21/11134Genomicunknown
ss481888005ILLUMINA|HumanOmni2.5-4v1_B_rs9388489-128_B_R_1745425401fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt01/30/1210/28/16137Genomicunknown
ss481921038ILLUMINA|HumanOmniExpress-12v1_C_rs9388489-131_B_R_1854774458fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt01/30/1210/27/16137Genomicunknown
ss482879195ILLUMINA|HumanOmni1-Quad_v1-0_C_rs9388489-131_B_R_1865471742fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt01/30/1208/28/15146Genomicunknown
ss485738166ILLUMINA|HumanOmni2.5-4v1_D_rs9388489-131_B_R_1854774458fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt01/30/1210/28/16137Genomicunknown
ss491391294EXOME_CHIP|.GWAS._107520_chr_6_126698719fwd/TA/Gttgcagaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgttgtac03/05/1203/05/12137Genomicunknown
ss537594247ILLUMINA|HumanOmni5-4v1_B_rs9388489-131_B_R_1908607129fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt06/22/1208/29/15146Genomicunknown
ss559511099TISHKOFF|snp_chr6_126698719fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt11/22/1211/23/12138Genomicunknown
ss653733269SSMP|6_126698719fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt12/14/1202/11/15138Genomicunknown
ss779051884ILLUMINA|HumanOmni25Exome-8v1_A_rs9388489-131_B_R_1865471742fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/30/1307/09/15146Genomicunknown
ss780687428ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs9388489-131_B_R_1990486095fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/30/1307/09/15146Genomicunknown
ss783314820ILLUMINA|HumanOmni2.5-4v1_H_rs9388489-131_B_R_1854774458fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/30/1307/28/15146Genomicunknown
ss783360981ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs9388489-131_B_R_1990486095fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/31/1306/19/15146Genomicunknown
ss784266862ILLUMINA|HumanOmniExpressExome-8v1_A_rs9388489-131_B_R_1908607129fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/31/1306/19/15146Genomicunknown
ss825625776ILLUMINA|HumanCNV370v1_C_rs9388489-123_B_R_IFB1136781520:0fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt06/24/1311/21/14144Genomicunknown
ss832576322ILLUMINA|HumanOmniExpress-12v1_H_rs9388489-131_B_R_1854774458fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt09/17/1306/18/15146Genomicunknown
ss834514855ILLUMINA|HumanOmni2.5-8v1_A_rs9388489-131_B_R_1865471742fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt09/18/1307/28/15146Genomicunknown
ss983479746EVA-GONL|EVA-GONL_rs9388489fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt04/23/1404/24/14142Genomicunknown
ss1074018862JMKIDD_LAB|HGDP_WGS_chr6_126698719fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt07/10/1407/11/14142Genomicunknown
ss13221928181000GENOMES|PHASE3_V1_34238215fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt08/16/1408/16/14142Genomicunknown
ss1397470157HAMMER_LAB|HAMMER_LAB_rs9388489fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt09/30/1407/15/15146Genomicunknown
ss1430890260DDI|DDI_rs9388489fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt11/04/1411/05/14144Genomicunknown
ss1581890766EVA_GENOME_DK|EVA_GENOME_DK_snv_rs9388489fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt02/19/1502/20/15144Genomicunknown
ss1593046811EVA_DECODE|EVA_DECODE_6_126740412_1010858_rs9388489fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt03/02/1503/03/15144Genomicunknown
ss1616652398EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_6_126698719_18979782fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt03/04/1503/04/15144Genomicunknown
ss1659646431EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_6_126698719_18979782fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt03/04/1503/04/15144Genomicunknown
ss1712898514EVA_SVP|EVA_SVP_592881fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt03/12/1503/12/15144Genomicunknown
ss1752600264ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs9388489-131_B_R_1990486095fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/27/1506/09/15146Genomicunknown
ss1752600265ILLUMINA|OmniExpressExome-8v1-1_B_rs9388489-131_B_R_1908607129fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/27/1506/09/15146Genomicunknown
ss1804662548HAMMER_LAB|Hsieh_3673648fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt07/15/1507/16/15146Genomicunknown
ss1917810373ILLUMINA|HumanExome-12v1-1_B_exm-rs9388489-131_B_R_1990486095fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt10/16/1510/16/15147Genomicunknown
ss1926724173WEILL_CORNELL_DGM|SNV:chr6:126698719fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt10/16/1510/17/15147Genomicunknown
ss1946190638ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs9388489-131_B_R_1990486095fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt10/29/1510/29/15147Genomicunknown
ss1958948640ILLUMINA|exm-rs9388489-131_B_R_1990486095fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt11/13/1511/13/15147Genomicunknown
ss1966656160AMU|chr6_126698719fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt01/29/1601/29/16147Genomicunknown
ss1970522094GENOMED|rs9388489fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt02/16/1602/16/16147Genomicunknown
ss2024018181JJLAB|SNP4520736fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt08/29/1608/30/16149Genomicunknown
ss2094961900ILLUMINA|Immuno_BeadChip_11419691_B_imm_6_126740412-1_B_R_1670192957fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt09/27/1609/27/16150Genomicunknown
ss2095188356ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_6_126740412-1_B_R_2310738960fwd/TA/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt09/27/1609/27/16150Genomicunknown
ss2152212425USC_VALOUEV|NC_000006.11:g.126698719A>Gfwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt11/17/1611/17/16150Genomicunknown
ss2288216224HUMAN_LONGEVITY|HLI-6-126377573-A-Gfwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt11/18/1611/18/16150Genomicunknown
ss2456880676TOPMED|6_126698719_A/Gfwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt11/20/1611/20/16150Genomicunknown
ss2626504284SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV2897154fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt01/06/1701/06/17151Genomicunknown
ss2634508690ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs9388489-131_B_R_19086071fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt02/02/1702/02/17151Genomicunknown
ss2707843521GRF|rs9388489fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt02/13/1702/13/17151Genomicunknown
ss2844894084GNOMAD|rs9388489fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/18/1705/18/17151Genomicunknown
ss2985384009AFFY|Axiom_PsorMich_Affx-27646721fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/24/1705/24/17151Genomicunknown
ss2986012242AFFY|Axiom_Smokesc1_Affx-27646721fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/24/1705/24/17151Genomicunknown
ss2999921906SWEGEN|NC_000006.11:g.126698719A>Gfwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt05/30/1705/30/17151Genomicunknown
ss3022664045ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs9388489-131_B_R_1990486095fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt06/28/1706/28/17151Genomicunknown
ss3025803398BIOINF_KMB_FNS_UNIBA|6.126377573A>Gfwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt07/05/1707/05/17151Genomicunknown
ss3347221234CSHL|rs9388489fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt10/02/1710/02/17151Genomicunknown
ss3511364889TOPMED|TOPMed_freeze_5?chr6:126,377,573-01fwd/A/Ggaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt10/05/1710/07/17151Genomicunknown
ss3511364890TOPMED|TOPMed_freeze_5?chr6:126,377,573-02fwd/A/Tgaaggtgatagttaaatgccttgttgattttttagccagtgtgagtctgt10/05/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9388489|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 GAATGCAGCA TCATCTTCTA ATGTTGTGTG GAGAGTAGAG AGTAGGGAAG TTGGGGAGAG
 CTAGAGAGTC CTTTGACCCA GATCTCTAGT CACACTGGGT ATCAAATTTA TACTTCTATT
 TTTTAACTGG AGTTATATAA TTACAGAGAT CCTCACAATT TAAATAAAAG GATGTATTCT
 TTTATGGAAG TGTGTATACC CTAATTAACT TTTCACTACT TTACATATTT AGCAGTTTAC
 TACCCAGCAT CCTATTATGA AGAAAAAAGA CCAGAATTAG TCACTATAGA ATTGACTTAG
 ATTTGTGGTG CTGCTATTCA AAAACTTTAT TTTAGACCTT GGCAAAATAT AGTGGCAGAC
 AAGTGGTATC ACTGTCTACT TAATTTTTAA GATGTGATTC TTAAATAAAC TATCTGTTAT
 AAGTTTATGG GGAAGGGAGA AACAGTTTCT GCAGTGTTAC TAAACTCAGA TTGCAGAAGG
 TGATAGTTAA ATGCCTTGTT
 D
 GATTTTTTAG CCAGTGTGAG TCTGTTGTAC CACAAAATTG GGACTGTTAG GGACTTCAAA
 AAACTCAGAC TTTTAAGAAA TATATTTTAA ATTCATCTTT TGACTTGTTT TGCATAAGTA
 AACCACATGC TAATATACTA CTCACTTTGA GAACATTATC CAAATATCAC AAAGTCTCTT
 CCAAAGTCCA GATAATTTCC AGTCCCTCTG TCAGAGAGCA AGTAACAACA AAAGACTTAT
 TCCAAACACA AATCAACCAG AACCTTGGAG AACCTTCACA GTAACTTGCT TTGCACAGCA
 ACTAGAGGAA GTTTTGTGAA AAACCCACAG TGGGGAGCAC ATAACCCCAT AATACTCAGA
 ACATATTGCC CAAGTTACAC ATGATGACAA GGTAAACATT TGCTTAAGAA CTCTTTCAAA
 GTGGGGAAAT GGTATGAAAT AAGCAGGGGA CGCTCTCGCA TCTTTAAAAC TCCAAATTAG
 CTACAGCTTG ACTTTAGCAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_025741 ABBA01025943
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.
SourceA/A
A/G
G/G
HWPA
G
ss1322192818EAS 1008AF 0.026800000.97320002
EUR 1006AF 0.549700020.45030001
AFR 1322AF 0.829000000.17100000
AMR 694AF 0.330000010.67000002
SAS 978AF 0.346600000.65340000
ss139681089ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss144294857ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss162799203CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss167249939PGP 2IG 1.00000000 0.500000000.50000000
ss222663752pilot_1_YRI_low_coverage_panel 118AF 0.855932180.14406779
ss233676215pilot_1_CEU_low_coverage_panel 120AF 0.616666670.38333333
ss240693102pilot_1_CHB+JPT_low_coverage_panel 120AF 0.008333330.99166667
ss24482167AFD_EUR_PANELEuropean 48IG0.500000000.375000000.125000000.583882000.687500000.31250000
AFD_AFR_PANELAfrican American 46IG0.695652190.260869560.043478260.751830000.826086940.17391305
AFD_CHN_PANELAsian 46IG 0.043478260.956521751.000000000.021739130.97826087
ss66258921HapMap-CEUEuropean 118IG0.372881350.457627120.169491530.751830000.601694940.39830509
HapMap-HCBAsian 90IG 0.022222220.977777781.000000000.011111110.98888886
HapMap-JPTAsian 90IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG0.683333340.31666666 0.438578000.841666640.15833333
ss76404058ICMHP 6IG0.333333340.333333340.33333334 0.500000000.50000000
ss93556438HapMap-CEUEuropean 226IG0.345132740.486725660.168141591.000000000.588495550.41150442
HapMap-HCBAsian 86IG 0.023255810.976744171.000000000.011627910.98837209
HapMap-JPTAsian 88IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 226IG0.681415920.309734520.008849560.200325000.836283210.16371681
HAPMAP-ASW 98IG0.632653060.306122450.061224490.527089000.785714270.21428572
HAPMAP-CHBAsian 82IG 0.024390240.975609781.000000000.012195120.98780489
HAPMAP-CHD 170IG 0.047058820.952941181.000000000.023529410.97647059
HAPMAP-GIH 176IG0.102272730.443181810.454545471.000000000.323863630.67613637
HAPMAP-LWK 180IG0.788888870.200000000.011111111.000000000.888888900.11111111
HAPMAP-MEX 100IG0.100000000.400000010.500000000.751830000.300000010.69999999
HAPMAP-MKK 286IG0.657342670.321678310.020979020.342782000.818181810.18181819
HAPMAP-TSI 176IG0.181818190.511363630.306818190.751830000.437500000.56250000
ENSEMBL_Watson 2IG1.00000000 1.00000000
ss98539362J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.495+/-0.0520000ALFRED: 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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