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: rs873917                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (REV)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4052/2029 (1000 Genomes)
T=0.3740/46963 (TOPMED)
HGVS Names
  • CM000663.2:g.39667123T>C
  • CM000663.2:g.39667123T>G
  • NC_000001.10:g.40132795T>G
  • NC_000001.11:g.39667123T>C
  • NC_000001.11:g.39667123T>G
  • NM_032526.2:c.136-887A>C
  • NM_032526.2:c.136-887A>G
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 ss275791314 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs873917 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
ss1297898TSC-CSHL|TSC0203830fwd/TA/Caaagctaggggattggaagaggggaatggaagagaagtaggggtctgttgtgaagggctt09/06/0010/10/0386Genomic95 %
ss6189501SC_JCM|NT_004852.12_823639rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt01/10/0310/10/03111Genomicunknown
ss9819689BCM_SSAHASNP|chr1.NT_077386.2_1739816rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt06/27/0310/10/03116Genomicunknown
ss14456321WUGSC_SSAHASNP|chr1.NT_032977.6_1739242byFreqrev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt11/05/0304/07/04119Genomicunknown
ss15461870SC_SNP|NT_032977.6_1739242rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt11/14/0311/22/03120Genomicunknown
ss19129247CSHL-HAPMAP|CSHL-HuDD-200402.chr1.NT_032977.6_1739242rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt02/20/0403/04/04120Genomicunknown
ss20482228SSAHASNP|WGSA-200403-chr1.chr1.NT_032977.6_1739242rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt03/18/0403/18/04121Genomicunknown
ss44126632ABI|hCV1254891rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt07/18/0507/18/05126Genomicunknown
ss66597088ILLUMINA|HumanHap300v1.1_rs873917fwd/BA/Caaagctaggggattggaagaggggaatggaagagaagtaggggtctgttgtgaagggctt11/09/0611/09/06127Genomicunknown
ss67884414ILLUMINA|HumanHap550v1.1_rs873917fwd/TA/Caaagctaggggattggaagaggggaatggaagagaagtaggggtctgttgtgaagggctt11/14/0611/14/06127Genomicunknown
ss68023929ILLUMINA|HumanHap650Yv1.0_rs873917fwd/TA/Caaagctaggggattggaagaggggaatggaagagaagtaggggtctgttgtgaagggctt11/14/0611/15/06127Genomicunknown
ss70976842ILLUMINA|HumanHap550v3.0__rs873917rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt04/20/0703/31/08130Genomicunknown
ss71588559ILLUMINA|HumanHap650Yv3.0_rs873917fwd/TA/Caaagctaggggattggaagaggggaatggaagagaagtaggggtctgttgtgaagggctt04/23/0704/23/07127Genomicunknown
ss74956856ILLUMINA|ILMN_Human_1M_rs873917fwd/TA/Caaagctaggggattggaagaggggaatggaagagaagtaggggtctgttgtgaagggctt08/28/0708/29/07129Genomicunknown
ss79285566ILLUMINA|HumanHap300v2.0_rs873917fwd/TA/Caaagctaggggattggaagaggggaatggaagagaagtaggggtctgttgtgaagggctt04/18/0711/18/07130Genomicunknown
ss83587311KRIBB_YJKIM|KHS496273fwd/TA/Caaagctaggggattggaagaggggaatggaagagaagtaggggtctgttgtgaagggctt12/04/0712/05/07130Genomicunknown
ss85218917HGSV|Cor19129_SNV_20070510.chr1_39801888rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt12/06/0712/08/07130Genomicunknown
ss87371852BCMHGSC_JDW|JWB-0036168rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt02/26/0802/26/08129Genomicunknown
ss99201698HUMANGENOME_JCVI|1103675073719rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt04/03/0804/03/08130Genomicunknown
ss102735978BGI|BGI_rs873917rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt06/04/0806/16/09131Genomicunknown
ss1081394741000GENOMES|CEU.trio.12.15.2008_50010_chr1_39905382rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt12/15/0812/15/08130Genomicunknown
ss118633931ILLUMINA-UK|NA18507_000045923_NCBI36.1_chr1_39905382rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt01/21/0901/21/09130Genomic99 %
ss122927288ILLUMINA|HumanCNV370v1_C_rs873917fwd/TA/Caaagctaggggattggaagaggggaatggaagagaagtaggggtctgttgtgaagggctt04/14/0904/15/09131Genomicunknown
ss139480763ENSEMBL|ENSSNP218535rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt12/08/0810/19/09131Genomicunknown
ss154475987ILLUMINA|Human610_Quadv1_B_rs873917-128_B_R_1501877011rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt06/18/0906/20/09131Genomicunknown
ss154899055GMI|GMI_SNP_198732374rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt06/24/0906/24/09131Genomicunknown
ss159650449ILLUMINA|Human660W-Quad_v1_A_rs873917-128_B_R_1501877011rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt07/06/0907/07/09131Genomicunknown
ss160960684ILLUMINA|HumanOmni1-Quad_v1-0_B_rs873917-128_B_R_1501877011rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt08/04/0910/05/09131Genomicunknown
ss164142170COMPLETE_GENOMICS|NA07022_36_chr1_39905382rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt09/28/0909/29/09132Genomicunknown
ss166399972COMPLETE_GENOMICS|NA20431_36_chr1_39905382rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt09/30/0909/30/09132Genomicunknown
ss172416114ILLUMINA|HumanCNV370-Quadv3_C_rs873917-128_B_R_1501877011rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt10/01/0910/04/09132Genomicunknown
ss174759095ILLUMINA|Human1M-Duov3_B_rs873917-128_B_R_1501877011rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt10/01/0910/05/09132Genomicunknown
ss198331582BUSHMAN|BUSHMAN-chr1-39905381rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt02/16/1003/06/10132Genomicunknown
ss205275139BCM-HGSC-SUB|BCM_CMT_1011-117322rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt03/15/1003/15/10132Genomicunknown
ss2105084701000GENOMES|YRI.trio.3.2010_20381_chr1_39905382rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt03/29/1003/29/10132Genomicunknown
ss2183370351000GENOMES|pilot_1_YRI_146718_chr1_39905382rev/G/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt04/22/1004/22/10132Genomicunknown
ss2304999781000GENOMES|pilot_1_CEU_104607_chr1_39905382rev/G/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt05/01/1005/01/10132Genomicunknown
ss2382008231000GENOMES|pilot_1_CHB+JPT_85900_chr1_39905382rev/G/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt05/01/1005/01/10132Genomicunknown
ss253044079BL|SNP45319_1_39905382rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt08/18/1008/18/10134Genomicunknown
ss275791314GMI|GMI_AK_SNP_111477rev/G/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt12/16/1012/16/10137Genomicunknown
ss284035796GMI|GMI_NA10851_SNP_48562rev/G/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt12/17/1012/17/10138Genomicunknown
ss290809534PJP|SNP_315892_chr1_39905382rev/G/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt01/21/1101/21/11134Genomicunknown
ss481817935ILLUMINA|HumanOmni2.5-4v1_B_rs873917-128_B_R_1765571481rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta01/30/1210/28/16137Genomicunknown
ss481850475ILLUMINA|HumanOmniExpress-12v1_C_rs873917-131_B_R_1857538762rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta01/30/1210/27/16137Genomicunknown
ss482810859ILLUMINA|HumanOmni1-Quad_v1-0_C_rs873917-131_B_R_1865692238rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta01/30/1208/28/15146Genomicunknown
ss485703605ILLUMINA|HumanOmni2.5-4v1_D_rs873917-131_B_R_1857538762rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta01/30/1210/27/16137Genomicunknown
ss491291918EXOME_CHIP|.GWAS._8145_chr_1_40132795rev/BG/Taagcccttcacaacagacccctacttctcttccattcccctcttccaatcccctagcttt03/05/1203/05/12137Genomicunknown
ss537568329ILLUMINA|HumanOmni5-4v1_B_rs873917-131_B_R_1885470065rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta06/22/1208/28/15146Genomicunknown
ss554001578TISHKOFF|snp_chr1_40132795rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta11/22/1211/22/12138Genomicunknown
ss647793009SSMP|1_40132795rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta12/14/1202/09/15138Genomicunknown
ss778630333ILLUMINA|HumanOmni25Exome-8v1_A_rs873917-131_B_R_1865692238rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/30/1307/09/15142Genomicunknown
ss780687118ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs873917-131_B_R_1990485703rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/30/1307/09/15142Genomicunknown
ss783297380ILLUMINA|HumanOmni2.5-4v1_H_rs873917-131_B_R_1857538762rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/30/1307/28/15146Genomicunknown
ss783360661ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs873917-131_B_R_1990485703rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/31/1306/18/15142Genomicunknown
ss784249808ILLUMINA|HumanOmniExpressExome-8v1_A_rs873917-131_B_R_1885470065rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/31/1306/18/15142Genomicunknown
ss825616084ILLUMINA|HumanCNV370v1_C_rs873917-126_B_R_IFB1135093418:0rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta06/24/1311/21/14144Genomicunknown
ss832558701ILLUMINA|HumanOmniExpress-12v1_H_rs873917-131_B_R_1857538762rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta09/17/1306/18/15146Genomicunknown
ss834087934ILLUMINA|HumanOmni2.5-8v1_A_rs873917-131_B_R_1865692238rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta09/18/1307/28/15142Genomicunknown
ss975059830EVA-GONL|EVA-GONL_rs873917rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta04/23/1404/23/14142Genomicunknown
ss1067813020JMKIDD_LAB|HGDP_WGS_chr1_40132795rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta07/10/1407/10/14142Genomicunknown
ss12904854891000GENOMES|PHASE3_V1_1195656rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta08/16/1408/16/14142Genomicunknown
ss1425778500DDI|DDI_rs873917rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta11/04/1411/04/14144Genomicunknown
ss1574001344EVA_GENOME_DK|EVA_GENOME_DK_snv_rs873917rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta02/19/1502/19/15144Genomicunknown
ss1584421550EVA_DECODE|EVA_DECODE_1_39905382_292291_rs873917rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta03/02/1503/02/15144Genomicunknown
ss1599961935EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_40132795_642748rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta03/04/1503/04/15144Genomicunknown
ss1642955968EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_40132795_642748rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta03/04/1503/04/15144Genomicunknown
ss1712325831EVA_SVP|EVA_SVP_20383rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta03/12/1503/12/15144Genomicunknown
ss1751919117ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs873917-131_B_R_1990485703rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/27/1506/09/15146Genomicunknown
ss1751919118ILLUMINA|OmniExpressExome-8v1-1_B_rs873917-131_B_R_1885470065rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/27/1506/09/15146Genomicunknown
ss1794210750HAMMER_LAB|Hsieh_130111rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta07/15/1507/15/15146Genomicunknown
ss1917727117ILLUMINA|HumanExome-12v1-1_B_exm-rs873917-131_B_R_1990485703rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta10/16/1510/16/15147Genomicunknown
ss1918269077WEILL_CORNELL_DGM|SNV:chr1:40132795rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta10/16/1510/16/15147Genomicunknown
ss1945992058ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs873917-131_B_R_1990485703rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta10/29/1510/29/15147Genomicunknown
ss1958264002ILLUMINA|exm-rs873917-131_B_R_1990485703rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta11/13/1511/13/15147Genomicunknown
ss1966726155GENOMED|rs873917rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta02/16/1602/16/16147Genomicunknown
ss2019648065JJLAB|SNP150620rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta08/29/1608/30/16149Genomicunknown
ss2094957461ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs873917-138_B_R_2264365481rev/BG/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta09/27/1609/27/16150Genomicunknown
ss2147658887USC_VALOUEV|NC_000001.10:g.40132795T>Grev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta11/17/1611/17/16150Genomicunknown
ss2161657502HUMAN_LONGEVITY|HLI-1-39667123-T-Grev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta11/18/1611/18/16150Genomicunknown
ss2323865907TOPMED|1_40132795_T/Grev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta11/19/1611/19/16150Genomicunknown
ss2624339639SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV93682rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta01/06/1701/06/17151Genomicunknown
ss2632503833ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs873917-131_B_R_188547006rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta02/02/1702/02/17151Genomicunknown
ss2697567334GRF|rs873917rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta02/13/1702/13/17151Genomicunknown
ss2753972573GNOMAD|rs873917rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/17/1705/17/17151Genomicunknown
ss2984855955AFFY|Axiom_PsorMich_Affx-10076622rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/24/1705/24/17151Genomicunknown
ss2986650357SWEGEN|NC_000001.10:g.40132795T>Grev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta05/30/1705/30/17151Genomicunknown
ss3021078160ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs873917-131_B_R_1990485703rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta06/28/1706/28/17151Genomicunknown
ss3023587134BIOINF_KMB_FNS_UNIBA|1.39667123T>Grev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta07/05/1707/05/17151Genomicunknown
ss3073930587TOPMED|TOPMed_freeze_5?chr1:39,667,123-01rev/C/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta09/28/1709/28/17151Genomicunknown
ss3073930588TOPMED|TOPMed_freeze_5?chr1:39,667,123-02rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta09/28/1709/28/17151Genomicunknown
ss3343412668CSHL|rs873917rev/G/Tcttcacaacagacccctacttctcttccattcccctcttccaatccccta10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs873917|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 GATTGGAGCC CAGGACTGAC CCCAGGAAGA AGAAATGGGG TTGAGTACAT GACCCACGGA
 TGATCAGGAG AGGCAAGAAT GCAAGGTGCA TTTATGAGCC TTGACCTCAA TTTGAGCCCC
 TCATTTTTAA TTTGTAAAGT GGGAATCAGG ACCCCAGGAC TGCTCAGGAC ACAGAGATGT
 GGTGGGATTC TCTGGGTATC TGTAAATCCC TTGGGCACTC ATATTCTGAT CCTCCCTAGG
 GACTATAAAG GTCCAGCTGC TGTCTGGGGT GGCGGGTACC TATAGTCCCA GCTACTTGGG
 AGGCTGAGGC AGGACAATTG CTCGAACCTG AGAGGTGGAG GTTGCAGTGA GCTGAGATCA
 CACCACTGCA CTCCAGCCTG GGCAACAAGA GTGAAACTCC ATCTCAGAAA AAAAAAAAAA
 AAAAAAAGAG GGGGAAAGTA TGACCTGATG TGAGAAAGCC CAGGTGGGGC AAAGCTAGGG
 GATTGGAAGA GGGGAATGGA
 V
 AGAGAAGTAG GGGTCTGTTG TGAAGGGCTT TCTATTTCCA CACTAGAGGC TGCCAGCCAT
 ATTCTGAGAA TAGTGTGCAC CACTAAAGAG GGGGGCTGTG GTCAGATCTG AACTTTAGAA
 AAATCCCCTG ACAGCAGCAT GAATGACAGA TTAGAGAATG TGACAGATGA TGATGGCCTG
 AACGAAAGAA GTGGGTGGAT TCTAGTAGAG TTGACTCATT TCGGTAATCG ATTGATGAGG
 AAGGGAGTTG AGGCTGACTT CCCAGCTTCT GCTTCAGTAA TGAGTGGATA GTGGTTCTAA
 GCCTTGCTAT GAGTTACAGG GAGAAGGGAT CAGGTTTGGG AGGGGAGAAG GTGATGGGAA
 TTCAGCCTTG GGAATGTTAA CTTTGAGAGG CTGTTAGTCA ACTGGGGCAG TTAGATGGAT
 GTATGAATCT GGAGCTCAGG AGACAGATCT GGGTTGCAGA TACATTTTTT ATATAAATTG
 TCATATTTAT GGGCATCATT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_077386 ABBA01023205 AL035404.19
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs873917 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss118633931YRI 2IG 1.00000000 1.00000000
ss1290485489EAS 1008AF 0.544600010.45540002
EUR 1006AF 0.310099990.68990004
AFR 1322AF 0.400900010.59909999
AMR 694AF 0.439500000.56050003
SAS 978AF 0.340500000.65950000
ss139480763ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ENSEMBL_celera 2IG 1.00000000 1.00000000
ss14456321CEPH 184AF 0.569999990.43000001
HapMap-CEUEuropean 226IG0.132743360.424778760.442477880.527089000.345132740.65486723
HapMap-HCBAsian 86IG0.232558150.511627910.255813961.000000000.488372090.51162791
HapMap-JPTAsian 172IG0.290697660.453488380.255813960.402784000.517441870.48255813
HapMap-YRISub-Saharan African 224IG0.125000000.517857130.357142870.317310000.383928570.61607140
HAPMAP-ASW 96IG0.104166660.520833310.375000000.402784000.364583340.63541669
HAPMAP-CHBAsian 82IG0.463414640.390243890.146341460.402784000.658536610.34146342
HAPMAP-CHD 170IG0.258823540.494117650.247058821.000000000.505882380.49411765
HAPMAP-GIH 176IG0.113636370.488636370.397727280.583882000.357954530.64204544
HAPMAP-LWK 180IG0.255555570.433333340.311111120.250592000.472222210.52777779
HAPMAP-MEX 98IG0.204081640.551020380.244897960.479500000.479591850.52040815
HAPMAP-MKK 284IG0.154929580.359154940.485915480.025056000.334507050.66549295
HAPMAP-TSI 176IG0.102272730.420454530.477272721.000000000.312500000.68750000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss164142170CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss166399972PGP 2IG 1.00000000 0.500000000.50000000
ss198331582BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss218337035pilot_1_YRI_low_coverage_panel 118AF 0.406779650.59322035
ss230499978pilot_1_CEU_low_coverage_panel 120AF 0.308333340.69166666
ss238200823pilot_1_CHB+JPT_low_coverage_panel 120AF 0.483333320.51666665
ss99201698J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.482+/-0.0930000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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