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Reference SNP (refSNP) Cluster Report: rs1003533                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.2435/28494 (ExAC)
T=0.2722/1363 (1000 Genomes)
T=0.2110/2744 (GO-ESP)
T=0.2170/27244 (TOPMED)
HGVS Names
  • CM000667.2:g.132419959C>T
  • NC_000005.10:g.132419959C>T
  • NC_000005.9:g.131755651C>T
  • NM_001207001.2:c.48+19C>T
  • NR_045116.1:n.387+19C>T
  • XR_948788.2:n.698-210G>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 ss1464800 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1003533 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
ss1464800TSC-CSHL|TSC0078380byFreqfwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat09/07/0004/07/0486Genomic95 %
ss3225866YUSUKE|IMS-JST035950byFreqfwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat09/05/0110/10/03100Genomicunknown
ss19630528CSHL-HAPMAP|CSHL-HuDD-200402.chr5.NT_034772.5_34170664fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat02/20/0403/04/04120Genomicunknown
ss24193574PERLEGEN|afd2529702byFreqfwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat08/10/0409/13/04123Genomicunknown
ss44621433ABI|hCV11818694byFreqfwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat07/19/0511/03/06126Genomicunknown
ss65757516ILLUMINA|Human1-rs1003533fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat10/10/0610/10/06127Genomicunknown
ss65830888KRIBB_YJKIM|KHS6680byFreqfwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat10/17/0612/16/06127Genomicunknown
ss66631592ILLUMINA|HumanHap300v1.1_rs1003533fwd/TC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat11/09/0611/09/06127Genomicunknown
ss66865605ILLUMINA|HumanHap550v1.1_rs1003533fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat11/14/0611/14/06127Genomicunknown
ss66936720ILLUMINA|HumanHap650Yv1.0_rs1003533fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat11/14/0611/14/06127Genomicunknown
ss68950017PERLEGEN|PGP02529702byFreqfwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat01/30/0708/14/07127Genomicunknown
ss70356814ILLUMINA|HumanHap300v2.0_rs1003533fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat04/18/0711/17/07127Genomicunknown
ss70460992ILLUMINA|HumanHap550v3.0__rs1003533fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat04/20/0703/29/08130Genomicunknown
ss70981741ILLUMINA|HumanHap650Yv3.0_rs1003533fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat04/23/0704/23/07127Genomicunknown
ss75530410ILLUMINA|ILMN_Human_1M_rs1003533fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat08/28/0708/29/07129Genomicunknown
ss76834749AFFY|AFFY_6_1M_SNP_A-8696273fwd/BC/Tgagtggagagcctgacggagtttttctctaat08/28/0708/30/07130Genomicunknown
ss83652036KRIBB_YJKIM|KHS510976fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat12/04/0712/05/07130Genomicunknown
ss93254438BCMHGSC_JDW|JWB-2041232fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat02/26/0803/04/08129Genomicunknown
ss1094251301000GENOMES|CEU.trio.12.15.2008_1365400_chr5_131783550fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat12/16/0812/16/08130Genomicunknown
ss1132817751000GENOMES|NA19240_2008_12_16_1226750_chr5_131783550fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat12/18/0812/18/08130Genomicunknown
ss121255352ILLUMINA|HumanCNV370v1_C_rs1003533fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat04/14/0904/14/09131Genomicunknown
ss143452135ENSEMBL|ENSSNP12918513fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat06/05/0906/06/09131Genomicunknown
ss152548284ILLUMINA|Human610_Quadv1_B_rs1003533-127_B_F_1501591057fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat06/18/0906/19/09131Genomicunknown
ss159104940ILLUMINA|Human660W-Quad_v1_A_rs1003533-128_B_F_1501591057fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat07/06/0907/06/09131Genomicunknown
ss159854330ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1003533-128_B_F_1501591057fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat08/04/0910/01/09131Genomicunknown
ss165897579COMPLETE_GENOMICS|NA19240_36_chr5_131783550fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat09/29/0909/30/09132Genomicunknown
ss169222665ILLUMINA|HumanCNV370-Quadv3_C_rs1003533-127_B_F_1501591057fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat10/01/0910/02/09132Genomicunknown
ss169547679ILLUMINA|Human1M-Duov3_B_rs1003533-127_B_F_1501591057fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat10/01/0910/01/09132Genomicunknown
ss200877270BUSHMAN|BUSHMAN-chr5-131783549fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat02/16/1003/07/10132Genomicunknown
ss206888212BCM-HGSC-SUB|BCM_CMT_1011-1095809fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat03/15/1003/18/10132Genomicunknown
ss2219707531000GENOMES|pilot_1_YRI_3780436_chr5_131783550fwd/C/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat04/22/1004/22/10132Genomicunknown
ss2331530861000GENOMES|pilot_1_CEU_2757715_chr5_131783550fwd/C/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat05/01/1005/01/10132Genomicunknown
ss2402728181000GENOMES|pilot_1_CHB+JPT_2157895_chr5_131783550fwd/C/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat05/01/1005/01/10132Genomicunknown
ss278485025GMI|GMI_AK_SNP_2805264fwd/C/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat12/16/1012/16/10137Genomicunknown
ss479163750ILLUMINA|HumanOmni2.5-4v1_B_rs1003533-128_B_F_1735632496fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc01/30/1210/28/16137Genomicunknown
ss479165607ILLUMINA|HumanOmniExpress-12v1_C_rs1003533-131_B_F_1856984909fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc01/30/1210/27/16137Genomicunknown
ss479483878ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1003533-131_B_F_1865684183fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc01/30/1208/28/15146Genomicunknown
ss484383045ILLUMINA|HumanOmni2.5-4v1_D_rs1003533-131_B_F_1856984909fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc01/30/1210/28/16137Genomicunknown
ss4909100421000GENOMES|20110521_exome_417840_chr5_131755651fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat02/10/1202/21/12137Genomicunknown
ss491872119CLINSEQ_SNP|SNV-chr5-131783550byFreqfwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc03/06/1209/05/14137Genomicunknown
ss536567987ILLUMINA|HumanOmni5-4v1_B_rs1003533-131_B_F_1885461554fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc06/22/1208/29/15146Genomicunknown
ss558718436TISHKOFF|snp_chr5_131755651fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc11/22/1211/23/12138Genomicunknown
ss652618136SSMP|5_131755651fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc12/14/1202/11/15138Genomicunknown
ss712661462NHLBI-ESP|ESP6500SI-chr5-131755651fwd/BC/Tcaccagccatgggtgagtggagagcctgacggagtttttctctaatttgttctgcattat02/20/1302/20/13138Genomicunknown
ss778720430ILLUMINA|HumanOmni25Exome-8v1_A_rs1003533-131_B_F_1865684183fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc05/30/1307/09/15146Genomicunknown
ss782637818ILLUMINA|HumanOmni2.5-4v1_H_rs1003533-131_B_F_1856984909fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc05/30/1307/28/15146Genomicunknown
ss783607328ILLUMINA|HumanOmniExpressExome-8v1_A_rs1003533-131_B_F_1885461554fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc05/31/1306/19/15146Genomicunknown
ss825326545ILLUMINA|HumanCNV370v1_C_rs1003533-126_B_F_IFB1135610938:0fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc06/24/1311/21/14144Genomicunknown
ss831887952ILLUMINA|HumanOmniExpress-12v1_H_rs1003533-131_B_F_1856984909fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc09/17/1306/18/15146Genomicunknown
ss834179817ILLUMINA|HumanOmni2.5-8v1_A_rs1003533-131_B_F_1865684183fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc09/18/1307/28/15146Genomicunknown
ss982132902EVA-GONL|EVA-GONL_rs1003533fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc04/23/1404/24/14142Genomicunknown
ss1067470826JMKIDD_LAB|HGDP_exomes_chr5_131755651fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc07/09/1407/09/14142Genomicunknown
ss1073049117JMKIDD_LAB|HGDP_WGS_chr5_131755651fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc07/10/1407/11/14142Genomicunknown
ss13172493781000GENOMES|PHASE3_V1_29080255fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc08/16/1408/16/14142Genomicunknown
ss1430505774DDI|DDI_rs1003533fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc11/04/1411/05/14144Genomicunknown
ss1581354916EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1003533fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc02/19/1502/20/15144Genomicunknown
ss1584040657EVA_FINRISK|EVA_FINRISK_rs1003533fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc02/27/1502/27/15144Genomicunknown
ss1591659741EVA_DECODE|EVA_DECODE_5_131783550_990445_rs1003533fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc03/02/1503/03/15144Genomicunknown
ss1614027939EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_5_131755651_16089153fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc03/04/1503/04/15144Genomicunknown
ss1657021972EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_5_131755651_16089153fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc03/04/1503/04/15144Genomicunknown
ss1687941352EVA_EXAC|EVA_EXAC_2939859fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc03/04/1503/04/15144Genomicunknown
ss1711097179EVA_MGP|EVA_XIMO_212939fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc03/09/1503/09/15144Genomicunknown
ss1712800553EVA_SVP|EVA_SVP_494920fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc03/12/1503/12/15144Genomicunknown
ss1752548437ILLUMINA|OmniExpressExome-8v1-1_B_rs1003533-131_B_F_1885461554fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc05/27/1506/09/15146Genomicunknown
ss1804085861HAMMER_LAB|Hsieh_3094604fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc07/15/1507/15/15146Genomicunknown
ss1925390405WEILL_CORNELL_DGM|SNV:chr5:131755651fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc10/16/1510/17/15147Genomicunknown
ss1946155044ILLUMINA|HumanCoreExome-12v1-0_C_rs1003533-131_B_F_1885461554fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc10/29/1510/29/15147Genomicunknown
ss1958822526ILLUMINA|rs1003533-131_B_F_1885461554fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc11/13/1511/13/15147Genomicunknown
ss1970210848GENOMED|rs1003533fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc02/16/1602/16/16147Genomicunknown
ss2023300639JJLAB|SNP3803194fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc08/29/1608/30/16149Genomicunknown
ss2094943395ILLUMINA|Immuno_BeadChip_11419691_B_imm_5_131783550-1_B_F_1670180815fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc09/27/1609/27/16150Genomicunknown
ss2095162536ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_5_131783550-1_B_F_2310629539fwd/BC/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc09/27/1609/27/16150Genomicunknown
ss2151456439USC_VALOUEV|NC_000005.9:g.131755651C>Tfwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc11/17/1611/17/16150Genomicunknown
ss2278217967HUMAN_LONGEVITY|HLI-5-132419959-C-Tfwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc11/18/1611/18/16150Genomicunknown
ss2446527063TOPMED|5_131755651_C/Tfwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc11/20/1611/20/16150Genomicunknown
ss2626138902SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV2434533fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc01/06/1701/06/17151Genomicunknown
ss2634340471ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1003533-131_B_F_18854615fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc02/02/1702/02/17151Genomicunknown
ss2707020269GRF|rs1003533fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc02/13/1702/13/17151Genomicunknown
ss2711048695ILLUMINA|Consortium-OncoArray_15047405_A_rs1003533-131_B_F_1885461554fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc03/22/1703/22/17151Genomicunknown
ss2735207967GNOMAD|exomes_rs1003533fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc05/17/1705/17/17151Genomicunknown
ss2747446096GNOMAD|coding_rs1003533fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc05/17/1705/17/17151Genomicunknown
ss2830858788GNOMAD|rs1003533fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc05/18/1705/18/17151Genomicunknown
ss2985334120AFFY|Axiom_PsorMich_Affx-25636823fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc05/24/1705/24/17151Genomicunknown
ss2997804785SWEGEN|NC_000005.9:g.131755651C>Tfwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc05/30/1705/30/17151Genomicunknown
ss3022529787ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs1003533-138_B_F_2263652787fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc06/28/1706/28/17151Genomicunknown
ss3025432986BIOINF_KMB_FNS_UNIBA|5.132419959C>Tfwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc07/05/1707/05/17151Genomicunknown
ss3346632581CSHL|rs1003533fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc10/02/1710/02/17151Genomicunknown
ss3478871283TOPMED|TOPMed_freeze_5?chr5:132,419,959fwd/C/Tgccatgggtgagtggagagcctgacggagtttttctctaatttgttctgc10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1003533|allelePos=303|totalLen=1829|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CAAGCAGAAA CTGTTTGTGG CCCAGCAGGT GTTGGCACTG GGTGAGTGCT TCTGGCTCTT
 GTCCCACGAC GGGCATCCAG GTCTTCCAGC GGCCTGAGGA TATAGGAGGG GCTTCAGGCG
 GATGATTGTG GCCGTTGCTT ATGTTTTTTC CTTGTTTGGC CTGCAGGTGG CAGCACACCC
 TGGGCCCCCC ACTCCCCGCC GCAAGTCCTG AGGATGGCCA GCAGAGAAAC AAGAAAATGG
 ACTCCCTGGC TGCTGGAGAG TTGAATGCCA GCCACCAGCC ATGGGTGAGT GGAGAGCCTG
 AC
 Y
 GGAGTTTTTC TCTAATTTGT TCTGCATTAT TTGTGTTTTG ATATATGAAT TGGTGTAAAT
 CACATGTGTT CAATTTTGAG GCCATTTGTT GATTTTTGCG GTTTATTTAC AAAAACAACA
 AACAATAGCA GTGAAACCAG AATTATTCCT GCAATGTTTC AGAGAGTATG AGGGACAAGG
 GCGCATCCTC TGCATTGTAA GTGTGACTTC CCTTCCCTTC TGCATCTTGG GCCTGTCTCC
 TTTGCCATCC AGGTAGGAGG TATCCACCCA GAATAGTTCA ACAAGTGTGT GGCAAGCTGG
 GAGTGTGAGG TGTTCTTCAC GGGGACCCTG CAGTCCTTCT TCCAGTCACT CCCAGGGTGG
 ACTATTCTGC ACTGTCATGC CTGGCCCCTA AGAACCCAGG GTTTCCGTCT GCCTGCACAG
 GCCTTTCAGC CCCTTGGTGG ACTTCTCCCG CTGACCCTCC CCTCTTCTCA CCCCTATTAA
 TTTCACAGCT CTATCTTATT TATCCCAAGA TCCTATTTGT GCTGCATTCT GAGCACTTGA
 ATGAGGATTG TTTATTTTCT GTTTTGATCA CATTTGTTAG CTTTGTGCTT AGAATAAAAT
 AATTTCAGTT TCATAAATGG GAATAAGCCC TTATGTCAAG GGCCACTACA TCACTTCTTG
 GCATTCCAGT GAGGGGTCTA GTGAAGAGCT TCCCTGAATT TCAGTACCTT TCAAGGCCTC
 TCTTGAAAGA ATGTGGAATT AATTTGGGTG GAGGCTTGTG CATGGACTTT TTTCTGAGTG
 TATTTGGCCA GTGGGCCAAT GGGGAAGCAG AGGCATGGAC AGAGAGAGGA ATGCGGCAGA
 AGGAGAAGCT GGGGTTGCAG GATGCCATTT GCTGTTTGTA CGGCTTCCCA TGGCCCACTG
 TAGTGGCTAG AGGGCACTGC CAGGAATCCT TCATGTGGCT GTTGCTTGCT GTTGGGGAAC
 ATGATTCAGA GCTGTGTAGC TCCATGTCCA GTTCCACTCT GCATCTCACT CACAAAGCTC
 TAGCGTTGGG CTGCTGGGTT TTGGTGAAAG CAGGTGCTAT GAATATATTG AAGGACAAAT
 CAGTCCCTAA GGGACTTCGA TAGACGCAGT CCTAAAAACA TTTCCGGGCT GGTTTCTTTT
 TTTTAAACAC CAGTTAACCG TTTTCAGTTT AACTGTGTTT TCCTTCCTGA AACCTTTAAG
 TGAGACTAAT TGGTATGATT TTTTTTTTGT ATGCTTTGTT TTTAGGGAGT TTCTCAACTT
 GTCAAGTCTG CGTTGCAGAC AGAGATGAAA TGATTTTTTT TTCCCACACA GACCAAGCAT
 GCAGAAATGG GAATGATTTA AGTTTGTCTT TAATTTAATT TCTATATCTT TCTTTTCCTT
 TCCTTGGGAA ATAGAGGAAA TACTTGGGGG CATTTTCACC AAATTGTAAC TTGTAACTTC
 ACAAGAGCCC GTCAGCAGGA ATTTCTATGC GTGTTTTAAT GCCTGGTTGG GGGAGACATG
 AAATGACAAC AGACAGTTGC CCTCAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_034772
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.
SourceC/C
C/T
T/T
HWPC
T
ss1317249378EAS 1008AF 0.668700040.33130002
EUR 1006AF 0.802199960.19780000
AFR 1322AF 0.769299980.23070002
AMR 694AF 0.852999990.14700000
SAS 978AF 0.567500000.43249997
ss143452135ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss1464800CEPH 184AF 0.860000010.14000000
HapMap-CEUEuropean 220IG0.672727290.281818180.045454550.479500000.813636360.18636364
HapMap-HCBAsian 86IG0.372093020.558139560.069767450.150222000.651162800.34883720
HapMap-JPTAsian 172IG0.383720930.546511650.069767450.050043000.656976760.34302327
HapMap-YRISub-Saharan African 224IG0.571428600.392857130.035714290.294266000.767857130.23214285
HAPMAP-ASW 98IG0.673469360.285714300.040816330.751830000.816326560.18367347
HAPMAP-CHBAsian 82IG0.439024390.414634140.146341460.583882000.646341440.35365853
HAPMAP-CHD 166IG0.506024120.409638550.084337351.000000000.710843380.28915662
HAPMAP-GIH 176IG0.363636370.465909090.170454551.000000000.596590940.40340909
HAPMAP-LWK 180IG0.744444430.25555557 0.527089000.872222240.12777779
HAPMAP-MEX 96IG0.666666690.291666660.041666671.000000000.812500000.18750000
HAPMAP-MKK 286IG0.692307710.251748260.055944060.099721000.818181810.18181819
HAPMAP-TSI 176IG0.590909060.352272720.056818181.000000000.767045440.23295455
ss165897579YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss1687941352ExAc_Aggregated_Populations121402AF 0.760522900.23947711
ss200877270BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss221970753pilot_1_YRI_low_coverage_panel 118AF 0.788135590.21186441
ss233153086pilot_1_CEU_low_coverage_panel 120AF 0.858333350.14166667
ss240272818pilot_1_CHB+JPT_low_coverage_panel 120AF 0.658333360.34166667
ss24193574AFD_EUR_PANELEuropean 48IG0.666666690.291666660.041666671.000000000.812500000.18750000
AFD_AFR_PANELAfrican American 46IG0.521739130.47826087 0.342782000.760869560.23913044
AFD_CHN_PANELAsian 48IG0.375000000.541666690.083333340.371093000.645833310.35416666
ss3225866JBIC-allele 1296AF 0.664300020.33570001
ss44621433AoD_African_American 90AF 0.759999990.24000001
AoD_Caucasian 92AF 0.759999990.23999999
ss491872119CSAgilent 1176GF0.672672630.290290270.037037040.583882000.817817810.18218219
ss65830888KHP1 174AF0.425287370.436781620.137931030.751830000.643678190.35632184
ss68950017HapMap-CEUEuropean 120IG0.766666650.216666670.016666671.000000000.875000000.12500000
HapMap-HCBAsian 90IG0.400000010.533333360.066666670.200325000.666666690.33333334
HapMap-JPTAsian 90IG0.311111120.600000020.088888890.099721000.611111100.38888890
HapMap-YRISub-Saharan African 120IG0.633333330.333333340.033333340.751830000.800000010.20000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.368+/-0.2200000ALFRED: 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: ILLUMINA
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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