NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs6065                 ** With drug-response allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:52/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With drug-response allele [ClinVar]
MAF/MinorAlleleCount:T=0.0980/11806 (ExAC)
T=0.1316/659 (1000 Genomes)
T=0.1232/1519 (GO-ESP)
T=0.1279/16059 (TOPMED)
HGVS Names
  • CM000679.2:g.4933086C>T
  • NC_000017.10:g.4836381C>T
  • NC_000017.11:g.4933086C>T
  • NG_008767.2:g.5792C>T
  • NM_000173.5:c.482C>T
  • NM_000173.6:c.482C>T
  • NP_000164.5:p.Thr161Met
  • XP_005256668.1:p.Thr190Met
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 ss282673648 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6065 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
ss7682WIAF-CSNP|WIAF-11526fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct07/15/9910/10/0352Genomicunknown
ss3199559PGA-UW-FHCRC|GP1BA-002217byFreqfwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct08/09/0104/07/0498Genomicunknown
ss22887253IMCJ-GDT|IMCJ-GP1BA_8-CTfwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct03/22/0403/22/04121Genomicunknown
ss66538601SHGC|654byFreqfwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct11/07/0608/14/07127Genomicunknown
ss66590287ILLUMINA|HumanHap300v1.1_rs6065fwd/TC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct11/09/0611/09/06127Genomicunknown
ss67439637ILLUMINA|HumanHap550v1.1_rs6065fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct11/14/0611/14/06127Genomicunknown
ss67792935ILLUMINA|HumanHap650Yv1.0_rs6065fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct11/14/0611/14/06127Genomicunknown
ss69189824PERLEGEN|PGP04169940byFreqfwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct01/30/0708/14/07127Genomicunknown
ss70856847ILLUMINA|HumanHap550v3.0__rs6065fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct04/20/0703/31/08130Genomicunknown
ss71443406ILLUMINA|HumanHap650Yv3.0_rs6065fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct04/23/0704/23/07127Genomicunknown
ss71644911SI_EXO|NT_010718.15_4433785byFreqfwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct05/07/0703/31/08127Genomicunknown
ss74937259ILLUMINA|ILMN_Human_1M_rs6065fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct08/28/0708/29/07129Genomicunknown
ss79215720ILLUMINA|HumanHap300v2.0_rs6065fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct04/18/0711/18/07130Genomicunknown
ss83347048KRIBB_YJKIM|KHS440046fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct12/04/0712/04/07130Genomicunknown
ss86237306CORNELL|hCV11442703byFreqfwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct01/21/0809/05/14129Genomicunknown
ss1096085371000GENOMES|CEU.trio.12.15.2008_3360677_chr17_4777161fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct12/16/0812/16/08130Genomicunknown
ss122509896ILLUMINA|HumanCNV370v1_C_rs6065fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct04/14/0904/15/09131Genomicunknown
ss154351608ILLUMINA|Human610_Quadv1_B_rs6065-128_B_F_1501806592fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct06/18/0906/20/09131Genomicunknown
ss159527922ILLUMINA|Human660W-Quad_v1_A_rs6065-128_B_F_1501806592fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct07/06/0907/07/09131Genomicunknown
ss160762045ILLUMINA|HumanOmni1-Quad_v1-0_B_rs6065-128_B_F_1512180503fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct08/04/0910/04/09131Genomicunknown
ss172092723ILLUMINA|HumanCNV370-Quadv3_C_rs6065-128_B_F_1501806592fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct10/01/0910/04/09132Genomicunknown
ss173973412ILLUMINA|Human1M-Duov3_B_rs6065-128_B_F_1501806592fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct10/01/0910/04/09132Genomicunknown
ss2274388061000GENOMES|pilot_1_YRI_9248489_chr17_4777161fwd/C/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct04/22/1004/22/10132Genomicunknown
ss2371654921000GENOMES|pilot_1_CEU_6770121_chr17_4777161fwd/C/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct05/01/1005/01/10132Genomicunknown
ss2434788491000GENOMES|pilot_1_CHB+JPT_5363926_chr17_4777161fwd/C/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct05/01/1005/01/10132Genomicunknown
ss244304310ILLUMINA|CVDSNP55v1_A_rs6065fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct06/10/1006/10/10132Genomicunknown
ss282673648GMI|GMI_AK_SNP_6994065fwd/C/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct12/16/1012/16/10137Genomicunknown
ss481205478ILLUMINA|HumanOmni2.5-4v1_B_rs6065-128_B_F_1690741617fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc01/30/1210/28/16137Genomicunknown
ss481228665ILLUMINA|HumanOmniExpress-12v1_C_rs6065-131_B_F_1856944441fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc01/30/1210/27/16137Genomicunknown
ss482215893ILLUMINA|HumanOmni1-Quad_v1-0_C_rs6065-131_B_F_1865206779fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc01/30/1208/28/15146Genomicunknown
ss485398011ILLUMINA|HumanOmni2.5-4v1_D_rs6065-131_B_F_1856944441fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc01/30/1210/27/16137Genomicunknown
ss491515454EXOME_CHIP|nonsyn_231680_chr_17_4836381fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct03/05/1203/05/12137Genomicunknown
ss491727750CLINSEQ_SNP|SNV-chr17-4777161byFreqfwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc03/06/1209/05/14137Genomicunknown
ss537335354ILLUMINA|HumanOmni5-4v1_B_rs6065-131_B_F_1866553097fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc06/22/1208/29/15146Genomicunknown
ss565138596TISHKOFF|snp_chr17_4836381fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc11/22/1211/23/12138Genomicunknown
ss660925480SSMP|17_4836381fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc12/14/1202/14/15138Genomicunknown
ss713349198NHLBI-ESP|ESP6500SI-chr17-4836381fwd/BC/Tagctgaagaccctgcccccagggctcctgagcccacacccaagctggagaagctcagtct02/20/1302/20/13138Genomicunknown
ss778935925ILLUMINA|HumanOmni25Exome-8v1_A_rs6065-131_B_F_1866553097fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/30/1307/10/15146Genomicunknown
ss780723754ILLUMINA|HumanOmni25Exome-8v1_A_exm1282062-0_T_R_1918706044fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/30/1307/10/15146Genomicunknown
ss783144516ILLUMINA|HumanOmni2.5-4v1_H_rs6065-131_B_F_1856944441fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/30/1307/29/15146Genomicunknown
ss783399677ILLUMINA|HumanOmniExpressExome-8v1_A_exm1282062-0_T_R_1918706044fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/31/1306/19/15146Genomicunknown
ss784100635ILLUMINA|HumanOmniExpressExome-8v1_A_rs6065-131_B_F_1967909996fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/31/1306/19/15146Genomicunknown
ss825546238ILLUMINA|HumanCNV370v1_C_rs6065-121_B_F_IFB1135062443:0fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc06/24/1311/21/14144Genomicunknown
ss832403628ILLUMINA|HumanOmniExpress-12v1_H_rs6065-131_B_F_1856944441fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc09/17/1306/18/15146Genomicunknown
ss834397582ILLUMINA|HumanOmni2.5-8v1_A_rs6065-131_B_F_1866553097fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc09/18/1307/29/15146Genomicunknown
ss974497049JMKIDD_LAB|KhoeSan_Exomes_chr17_4836381fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc03/06/1403/06/14142Genomicunknown
ss992876437EVA-GONL|EVA-GONL_rs6065fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc04/23/1404/30/14142Genomicunknown
ss1067566724JMKIDD_LAB|HGDP_exomes_chr17_4836381fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc07/09/1407/09/14142Genomicunknown
ss1080898749JMKIDD_LAB|HGDP_WGS_chr17_4836381fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc07/10/1407/12/14142Genomicunknown
ss13577298511000GENOMES|PHASE3_V1_71222726fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc08/16/1408/16/14142Genomicunknown
ss1397725091HAMMER_LAB|HAMMER_LAB_rs6065fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc09/30/1409/30/14146Genomicunknown
ss1427962762DDI|DDI_rs6065fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc11/04/1411/04/14144Genomicunknown
ss1578069550EVA_GENOME_DK|EVA_GENOME_DK_snv_rs6065fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc02/19/1502/19/15144Genomicunknown
ss1584103283EVA_FINRISK|EVA_FINRISK_rs6065fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc02/27/1502/27/15144Genomicunknown
ss1635196484EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_17_4836381_39341990fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc03/04/1503/04/15144Genomicunknown
ss1678190517EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_17_4836381_39341990fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc03/04/1503/04/15144Genomicunknown
ss1692542446EVA_EXAC|EVA_EXAC_7896466fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc03/04/1503/04/15144Genomicunknown
ss1696916790EVA_DECODE|EVA_DECODE_17_4777161_42793_rs6065fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc03/02/1503/04/15144Genomicunknown
ss1711444914EVA_MGP|EVA_XIMO_560674fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc03/09/1503/09/15144Genomicunknown
ss1713566504EVA_SVP|EVA_SVP_1260871fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc03/12/1503/12/15144Genomicunknown
ss1752229295ILLUMINA|OmniExpressExome-8v1-1_B_exm1282062-0_T_R_2060138909fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/27/1506/09/15146Genomicunknown
ss1752229296ILLUMINA|OmniExpressExome-8v1-1_B_rs6065-131_B_F_1967909996fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/27/1506/09/15146Genomicunknown
ss1917913298ILLUMINA|HumanExome-12v1-1_B_exm1282062-0_T_R_2060138909fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc10/16/1510/16/15147Genomicunknown
ss1936322799WEILL_CORNELL_DGM|SNV:chr17:4836381fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc10/16/1510/19/15147Genomicunknown
ss1946426221ILLUMINA|HumanCoreExome-12v1-0_C_exm1282062-0_T_R_2060138909fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc10/29/1510/29/15147Genomicunknown
ss1959717770ILLUMINA|exm1282062-0_T_R_1918706044fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc11/13/1511/13/15147Genomicunknown
ss1968341932GENOMED|rs6065fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc02/16/1602/16/16147Genomicunknown
ss2028949308JJLAB|SNP9451863fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc08/29/1608/31/16149Genomicunknown
ss2094800726ILLUMINA|Immuno_BeadChip_11419691_B_rs6065-131_B_F_1866553097fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc09/27/1609/27/16150Genomicunknown
ss2095070972ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs6065-131_B_F_1866553097fwd/BC/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc09/27/1609/27/16150Genomicunknown
ss2157395200USC_VALOUEV|NC_000017.10:g.4836381C>Tfwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc11/17/1611/17/16150Genomicunknown
ss2215152685HUMAN_LONGEVITY|HLI-17-4933086-C-Tfwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc11/18/1611/18/16150Genomicunknown
ss2379993767TOPMED|17_4836381_C/Tfwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc11/19/1611/19/16150Genomicunknown
ss2633369095ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs6065-131_T_R_2131163fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc02/02/1702/02/17151Genomicunknown
ss2633369096ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs6065-131_B_F_1967909996fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc02/02/1702/02/17151Genomicunknown
ss2633369097ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs6065-131_T_R_2130251fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc02/02/1702/02/17151Genomicunknown
ss2701936777GRF|rs6065fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc02/13/1702/13/17151Genomicunknown
ss2742354284GNOMAD|exomes_rs6065fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/17/1705/17/17151Genomicunknown
ss2749662865GNOMAD|coding_rs6065fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/17/1705/17/17151Genomicunknown
ss2947199664GNOMAD|rs6065fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/23/1705/23/17151Genomicunknown
ss2985083094AFFY|Axiom_PsorMich_Affx-14012598fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/24/1705/24/17151Genomicunknown
ss2985721832AFFY|Axiom_Smokesc1_Affx-14012598fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/24/1705/24/17151Genomicunknown
ss3015121084SWEGEN|NC_000017.10:g.4836381C>Tfwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc05/30/1705/30/17151Genomicunknown
ss3021748715ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1282062-0_T_R_1918706044fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc06/28/1706/28/17151Genomicunknown
ss3028293143BIOINF_KMB_FNS_UNIBA|17.4933086C>Tfwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc07/05/1707/05/17151Genomicunknown
ss3256149567TOPMED|TOPMed_freeze_5?chr17:4,933,086fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc10/01/1710/01/17151Genomicunknown
ss3351631000CSHL|rs6065fwd/C/Taagaccctgcccccagggctcctgagcccacacccaagctggagaagctc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6065|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CCCTTGCCCA CAGGTCCTCA TGCCTCTCCT CCTCTTGCTG CTCCTGCTGC CAAGCCCCTT
 ACACCCCCAC CCCATCTGTG AGGTCTCCAA AGTGGCCAGC CACCTAGAAG TGAACTGTGA
 CAAGAGGAAT CTGACAGCGC TGCCTCCAGA CCTGCCGAAA GACACAACCA TCCTCCACCT
 GAGTGAGAAC CTCCTGTACA CCTTCTCCCT GGCAACCCTG ATGCCTTACA CTCGCCTCAC
 TCAGCTGAAC CTAGATAGGT GCGAGCTCAC CAAGCTCCAG GTCGATGGGA CGCTGCCAGT
 GCTGGGGACC CTGGATCTAT CCCACAATCA GCTGCAAAGC CTGCCCTTGC TAGGGCAGAC
 ACTGCCTGCT CTCACCGTCC TGGACGTCTC CTTCAACCGG CTGACCTCGC TGCCTCTTGG
 TGCCCTGCGT GGTCTTGGCG AACTCCAAGA GCTCTACCTG AAAGGCAATG AGCTGAAGAC
 CCTGCCCCCA GGGCTCCTGA
 Y
 GCCCACACCC AAGCTGGAGA AGCTCAGTCT GGCTAACAAC AACTTGACTG AGCTCCCCGC
 TGGGCTCCTG AATGGGCTGG AGAATCTCGA CACCCTTCTC CTCCAAGAGA ACTCGCTGTA
 TACAATACCA AAGGGCTTTT TTGGGTCCCA CCTCCTGCCT TTTGCTTTTC TCCACGGGAA
 CCCCTGGTTA TGCAACTGTG AGATCCTCTA TTTTCGTCGC TGGCTGCAGG ACAATGCTGA
 AAATGTCTAC GTATGGAAGC AAGGTGTGGA CGTCAAGGCC ATGACCTCTA ATGTGGCCAG
 TGTGCAGTGT GACAATTCAG ACAAGTTTCC CGTCTACAAA TACCCAGGAA AGGGGTGCCC
 CACCCTTGGT GATGAAGGTG ACACAGACCT ATATGATTAC TACCCAGAAG AGGACACTGA
 GGGCGATAAG GTGCGTGCCA CAAGGACTGT GGTCAAGTTC CCCACCAAAG CCCATACAAC
 CCCCTGGGGT CTATTCTACT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010718.15
dbSNP Blast Analysis
UniGene Cluster ID
1472
3D structure mapping
NP_000164  

  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.
SourceC/C
C/T
T/T
HWPC
T
ss1357729851EAS 1008AF 0.929600000.07040001
EUR 1006AF 0.912499960.08750000
AFR 1322AF 0.748900000.25110000
AMR 694AF 0.845800040.15420000
SAS 978AF 0.937599960.06240000
ss1692542446ExAc_Aggregated_Populations120890AF 0.902125900.09787410
ss227438806pilot_1_YRI_low_coverage_panel 118AF 0.703389820.29661018
ss237165492pilot_1_CEU_low_coverage_panel 120AF 0.933333340.06666667
ss243478849pilot_1_CHB+JPT_low_coverage_panel 120AF 0.891666650.10833333
ss3199559PGA-AFRICAN-PANELAfrican American 48IG0.666666690.33333334 0.654721000.833333310.16666667
PGA-EUROPEAN-PANELEuropean 46IG0.956521750.04347826 1.000000000.978260870.02173913
CEPH 184AF 0.949999990.05000000
ss491727750CSAgilent 569GF0.824999990.161000000.014000000.317310000.905499990.09450000
ss66538601R24 46AF 0.980000020.02000000
CABG_NORTHAMERICAN 2184GF0.823260070.161172170.015567770.020022000.903846140.09615385
ss71644911HapMap-CEUEuropean 224IG0.892857130.10714286 1.000000000.946428600.05357143
HapMap-HCBAsian 86IG0.930232580.06976745 1.000000000.965116260.03488372
HapMap-JPTAsian 170IG0.717647080.258823540.023529411.000000000.847058830.15294118
HapMap-YRISub-Saharan African 224IG0.607142870.294642870.098214280.050043000.754464270.24553572
HAPMAP-ASW 96IG0.520833310.395833340.083333341.000000000.718750000.28125000
HAPMAP-CHBAsian 82IG0.902439000.09756097 1.000000000.951219500.04878049
HAPMAP-CHD 170IG0.917647060.08235294 1.000000000.958823500.04117647
HAPMAP-GIH 176IG0.875000000.113636370.011363640.342782000.931818190.06818182
HAPMAP-LWK 180IG0.500000000.444444450.055555560.317310000.722222210.27777779
HAPMAP-MKK 284IG0.507042230.443661960.049295780.150222000.728873250.27112675
HAPMAP-TSI 176IG0.875000000.113636370.011363640.342782000.931818190.06818182
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss86237306AGI_ASP_populationmultiple 78IG0.717948730.205128210.076923080.099721000.820512830.17948718

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.177+/-0.2390000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNYESYES

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement