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Reference SNP (refSNP) Cluster Report: rs9534262                 ** With Benign allele **
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
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:T=0.4792/57836 (ExAC)
T=0.4685/2346 (1000 Genomes)
T=0.4798/6239 (GO-ESP)
T=0.4685/58828 (TOPMED)
HGVS Names
  • CM000675.2:g.32362509T>C
  • NC_000013.10:g.32936646T>C
  • NC_000013.11:g.32362509T>C
  • NG_012772.3:g.52030T>C
  • NM_000059.3:c.7806-14T>C
  • U43746.1:c.7806-14T>C
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 ss281664417 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9534262 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
ss13218006SC_SNP|NT_024524.12_1511137fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc10/22/0310/31/03119Genomicunknown
ss16355895EGP_SNPS|BRCA2-048271byFreqfwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc01/23/0404/07/04120Genomicunknown
ss21079858SSAHASNP|WGSA-200403-chr13.chr13.NT_024524.13_13916646byFreqfwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc03/19/0405/17/04121Genomicunknown
ss43524925ABI|hCV3070421byFreqfwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc07/18/0511/03/06126Genomicunknown
ss65762416ILLUMINA|Human1-rs9534262fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc10/10/0610/10/06127Genomicunknown
ss66791085ILLUMINA|HumanHap300v1.1_rs9534262fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc11/09/0611/09/06127Genomicunknown
ss67927777ILLUMINA|HumanHap550v1.1_rs9534262fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc11/14/0611/15/06127Genomicunknown
ss68049053ILLUMINA|HumanHap650Yv1.0_rs9534262fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc11/14/0611/15/06127Genomicunknown
ss71613717ILLUMINA|HumanHap650Yv3.0_rs9534262fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc04/23/0704/23/07127Genomicunknown
ss75761909ILLUMINA|ILMN_Human_1M_rs9534262fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc08/28/0708/29/07129Genomicunknown
ss76894743SI_EXO|NT_024524.13_13916646byFreqfwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc09/20/0709/05/14129Genomicunknown
ss78168873HGSV|Cor12878_SNV_20070510.chr13_31834646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc10/17/0710/18/07129Genomicunknown
ss78775144HGSV|Cor18507_SNV_20070510.chr13_31834646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc10/19/0710/20/07129Genomicunknown
ss79299170ILLUMINA|HumanHap300v2.0_rs9534262fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc04/18/0711/18/07130Genomicunknown
ss84751088HGSV|Cor19129_SNV_20070510.chr13_31834646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc12/06/0712/07/07130Genomicunknown
ss84831877KRIBB_YJKIM|KHS823721fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc12/04/0712/08/07130Genomicunknown
ss89578873BCMHGSC_JDW|JWB-0651276fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc02/26/0802/28/08129Genomicunknown
ss97148192HUMANGENOME_JCVI|1103649191242fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc03/28/0803/28/08130Genomicunknown
ss98269317ILLUMINA|HumanHap550v3.0__rs9534262rev/TA/Ggagtgtcacacagagccctgaacaaataaagtagaatattatcataaaaaccacatagga04/20/0703/31/08130Genomicunknown
ss106324757BGI|BGI_rs9534262fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc09/15/0806/17/09130Genomicunknown
ss1126732431000GENOMES|CEU.trio.12.15.2008_2870843_chr13_31834646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc12/17/0812/17/08130Genomicunknown
ss1145083651000GENOMES|NA19240_2008_12_16_2580958_chr13_31834646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc12/18/0812/18/08130Genomicunknown
ss118412689ILLUMINA-UK|NA18507_000020968_NCBI36.1_chr13_31834646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc01/21/0901/21/09130Genomic99 %
ss123008636ILLUMINA|HumanCNV370v1_C_rs9534262fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc04/14/0904/15/09131Genomicunknown
ss132214136ENSEMBL|ENSSNP863773fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc12/08/0810/15/09131Genomicunknown
ss133520918ENSEMBL|ENSSNP5723037fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc05/11/0905/14/09131Genomicunknown
ss154499392ILLUMINA|Human610_Quadv1_B_rs9534262-126_T_R_1501891521rev/TA/Ggagtgtcacacagagccctgaacaaataaagtagaatattatcataaaaaccacatagga06/18/0906/20/09131Genomicunknown
ss154628970GMI|GMI_SNP_40534928fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc06/24/0906/24/09131Genomicunknown
ss159673250ILLUMINA|Human660W-Quad_v1_A_rs9534262-126_T_R_1501891521rev/TA/Ggagtgtcacacagagccctgaacaaataaagtagaatattatcataaaaaccacatagga07/06/0907/07/09131Genomicunknown
ss160996404ILLUMINA|HumanOmni1-Quad_v1-0_B_rs9534262-126_T_R_1501891521rev/TA/Ggagtgtcacacagagccctgaacaaataaagtagaatattatcataaaaaccacatagga08/04/0910/05/09131Genomicunknown
ss169156029COMPLETE_GENOMICS|NA19240_36_chr13_31834646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc10/01/0910/01/09132Genomicunknown
ss170978723COMPLETE_GENOMICS|NA20431_36_chr13_31834646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc10/01/0910/01/09132Genomicunknown
ss172476979ILLUMINA|HumanCNV370-Quadv3_C_rs9534262-126_T_R_1501891521rev/TA/Ggagtgtcacacagagccctgaacaaataaagtagaatattatcataaaaaccacatagga10/01/0910/04/09132Genomicunknown
ss174861284ILLUMINA|Human1M-Duov3_B_rs9534262-126_T_R_1501891521rev/TA/Ggagtgtcacacagagccctgaacaaataaagtagaatattatcataaaaaccacatagga10/01/0910/05/09132Genomicunknown
ss199050822BUSHMAN|BUSHMAN-chr13-31834645byFreqfwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc02/16/1009/05/14132Genomicunknown
ss208693119BCM-HGSC-SUB|BCM_CMT_1011-2526079fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc03/15/1003/20/10132Genomicunknown
ss210592914BIC_BRODY|NM_000059.3:c.7806-14T>Cfwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc03/29/1005/24/10132Genomicunknown
ss2261156491000GENOMES|pilot_1_YRI_7925332_chr13_31834646fwd/C/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc04/22/1004/22/10132Genomicunknown
ss2362024471000GENOMES|pilot_1_CEU_5807076_chr13_31834646fwd/C/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc05/01/1005/01/10132Genomicunknown
ss2427073261000GENOMES|pilot_1_CHB+JPT_4592403_chr13_31834646fwd/C/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc05/01/1005/01/10132Genomicunknown
ss254910858BL|SNP21453_13_31834646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc08/19/1008/19/10134Genomicunknown
ss281664417GMI|GMI_AK_SNP_5984806fwd/C/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc12/16/1012/16/10137Genomicunknown
ss286681267GMI|GMI_NA10851_SNP_2694058fwd/C/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc12/17/1012/17/10138Genomicunknown
ss291571712PJP|SNP_1078070_chr13_31834646fwd/C/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc01/21/1101/21/11134Genomicunknown
ss410958785ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs9534262rev/TA/Ggagtgtcacacagagccctgaacaaataaagtagaatattatcataaaaaccacatagga06/07/1106/08/11135Genomicunknown
ss481926532ILLUMINA|HumanOmni2.5-4v1_B_rs9534262-128_T_R_1512265211fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga01/30/1210/28/16137Genomicunknown
ss481959567ILLUMINA|HumanOmniExpress-12v1_C_rs9534262-131_T_R_1858858201fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga01/30/1210/27/16137Genomicunknown
ss482917537ILLUMINA|HumanOmni1-Quad_v1-0_C_rs9534262-131_T_R_1858858201fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga01/30/1208/28/15146Genomicunknown
ss485757058ILLUMINA|HumanOmni2.5-4v1_D_rs9534262-131_T_R_1858858201fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga01/30/1210/27/16137Genomicunknown
ss4910582321000GENOMES|20110521_exome_566030_chr13_32936646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc02/10/1202/22/12137Genomicunknown
ss491678316CLINSEQ_SNP|SNV-chr13-31834646byFreqfwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga03/06/1209/05/14137Genomicunknown
ss537608560ILLUMINA|HumanOmni5-4v1_B_rs9534262-131_T_R_1885613750fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga06/22/1208/29/15146Genomicunknown
ss563590364TISHKOFF|snp_chr13_32936646fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga11/22/1211/23/12138Genomicunknown
ss659186704SSMP|13_32936646fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga12/14/1202/13/15138Genomicunknown
ss713146488NHLBI-ESP|ESP6500SI-chr13-32936646fwd/BC/Ttcctatgtggtttttatgataatattctactttatttgttcagggctctgtgtgacactc02/20/1302/20/13138Genomicunknown
ss778641879ILLUMINA|HumanOmni25Exome-8v1_A_rs9534262-131_T_R_1858858201fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga05/30/1307/10/15146Genomicunknown
ss783324323ILLUMINA|HumanOmni2.5-4v1_H_rs9534262-131_T_R_1858858201fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga05/30/1307/29/15146Genomicunknown
ss784276162ILLUMINA|HumanOmniExpressExome-8v1_A_rs9534262-131_T_R_1885613750fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga05/31/1306/18/15146Genomicunknown
ss825629688ILLUMINA|HumanCNV370v1_C_rs9534262-126_T_R_IFB1136781979:0fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga06/24/1311/21/14144Genomicunknown
ss832585960ILLUMINA|HumanOmniExpress-12v1_H_rs9534262-131_T_R_1858858201fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga09/17/1306/18/15146Genomicunknown
ss834099589ILLUMINA|HumanOmni2.5-8v1_A_rs9534262-131_T_R_1858858201fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga09/18/1307/29/15146Genomicunknown
ss974486482JMKIDD_LAB|KhoeSan_Exomes_chr13_32936646fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga03/06/1403/06/14142Genomicunknown
ss990258714EVA-GONL|EVA-GONL_rs9534262fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga04/23/1404/25/14142Genomicunknown
ss1067540727JMKIDD_LAB|HGDP_exomes_chr13_32936646fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga07/09/1407/09/14142Genomicunknown
ss1078986072JMKIDD_LAB|HGDP_WGS_chr13_32936646fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga07/10/1407/12/14142Genomicunknown
ss13477292801000GENOMES|PHASE3_V1_60810705fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga08/16/1408/16/14142Genomicunknown
ss1427149845DDI|DDI_rs9534262fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga11/04/1411/04/14144Genomicunknown
ss1576713752EVA_GENOME_DK|EVA_GENOME_DK_snv_rs9534262fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga02/19/1502/19/15144Genomicunknown
ss1584086511EVA_FINRISK|EVA_FINRISK_rs9534262fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga02/27/1502/27/15144Genomicunknown
ss1630017557EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_13_32936646_33650225fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga03/04/1503/04/15144Genomicunknown
ss1642362904EVA_DECODE|EVA_DECODE_13_31834646_116537_rs9534262fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga03/02/1503/04/15144Genomicunknown
ss1673011590EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_13_32936646_33650225fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga03/04/1503/04/15144Genomicunknown
ss1691251873EVA_EXAC|EVA_EXAC_6506983fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga03/04/1503/04/15144Genomicunknown
ss1711354339EVA_MGP|EVA_XIMO_470099fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga03/09/1503/09/15144Genomicunknown
ss1713380993EVA_SVP|EVA_SVP_1075360fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga03/12/1503/12/15144Genomicunknown
ss1752100995ILLUMINA|OmniExpressExome-8v1-1_B_rs9534262-131_T_R_1885613750fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga05/27/1506/09/15146Genomicunknown
ss1807554822HAMMER_LAB|Hsieh_6577361fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga07/15/1507/16/15146Genomicunknown
ss1933627355WEILL_CORNELL_DGM|SNV:chr13:32936646fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga10/16/1510/17/15147Genomicunknown
ss1967751264GENOMED|rs9534262fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga02/16/1602/16/16147Genomicunknown
ss2027571007JJLAB|SNP8073562fwd/BC/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga08/29/1608/31/16149Genomicunknown
ss2155935528USC_VALOUEV|NC_000013.10:g.32936646T>Cfwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga11/17/1611/17/16150Genomicunknown
ss2195326026HUMAN_LONGEVITY|HLI-13-32362509-T-Cfwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga11/18/1611/18/16150Genomicunknown
ss2359428888TOPMED|13_32936646_T/Cfwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga11/19/1611/19/16150Genomicunknown
ss2628273648SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5142868fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga01/06/1701/06/17151Genomicunknown
ss2633047948ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs9534262-131_T_R_18856137fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga02/02/1702/02/17151Genomicunknown
ss2635044126ILLUMINA|Cancer_BeadChip_11459870_A_rs9534262-128_T_R_1512265211fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga02/02/1702/02/17151Genomicunknown
ss2700308366GRF|rs9534262fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga02/13/1702/13/17151Genomicunknown
ss2710780090ILLUMINA|Consortium-OncoArray_15047405_A_chr13_32936646_C_T-100_T_R_21968fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga03/22/1703/22/17151Genomicunknown
ss2740354527GNOMAD|exomes_rs9534262fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga05/17/1705/17/17151Genomicunknown
ss2749029809GNOMAD|coding_rs9534262fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga05/17/1705/17/17151Genomicunknown
ss2918248492GNOMAD|rs9534262fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga05/23/1705/23/17151Genomicunknown
ss3010819074SWEGEN|NC_000013.10:g.32936646T>Cfwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga05/30/1705/30/17151Genomicunknown
ss3027601616BIOINF_KMB_FNS_UNIBA|13.32362509T>Cfwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga07/05/1707/05/17151Genomicunknown
ss3189477297TOPMED|TOPMed_freeze_5?chr13:32,362,509fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga09/30/1709/30/17151Genomicunknown
ss3350396098CSHL|rs9534262fwd/C/Ttgtggtttttatgataatattctactttatttgttcagggctctgtgtga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9534262|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TTAAGTGGAA TTTTTTGTTT TGTTTTTATA TTTTGAGATA GGGTCTCACT CTTGTCCAGG
 CTGGAGTGCA GTGGCACTAT CATGGCTCAC TGCAGCCTCA ACCTCCTGGG CTCAAGCAAT
 CCTCCCACCA CAGCCTCCTA AGTAGCTGGG ACCACAGATG TGAGCTACCA CTCTTGGCTG
 ATTTTTTTTA TTATTTTTTG TAGAGATGTG GGGGTCTCAC TATGTTGCCT AGGCTGGTCT
 CAAACTTCTG GCCTCAAGCA ATCCTCCTGC CTCAGCTTCC CAAAATGCTG GGAGTATAGG
 CATGAGCCAC CATGCTCAGC AATGAAGTTT TTATCAGTAT GATACTTTGA TACATGTCAA
 ATAATTTTCT GAAATTATAT TGTAGATCAT ATGAACTCAT AAAAACTTAA TGATCTTGAA
 CAATGTAGTT TTTGTACAGA GAATAGTTGT AGTTGTTGAA TTCAGTATCA TCCTATGTGG
 TTTTTATGAT AATATTCTAC
 Y
 TTTATTTGTT CAGGGCTCTG TGTGACACTC CAGGTGTGGA TCCAAAGCTT ATTTCTAGAA
 TTTGGGTTTA TAATCACTAT AGATGGATCA TATGGAAACT GGCAGCTATG GAATGTGCCT
 TTCCTAAGGA ATTTGCTAAT AGATGCCTAA GCCCAGAAAG GGTGCTTCTT CAACTAAAAT
 ACAGGCAAGT TTAAAGCATT ACATTACGTA ATCATATACG GCAGTATGGT TAAGGTTTCT
 GTGTAGTCTG TGACTTCCAT GTCAAAATGT TGCACAAGCC AGTTGTCAGT GACAGTTGCC
 ATCCCACACT GCTGTTCTCC TGTCATCCCT AGCCCCCATT TAAGAGAGAT CACACATTCA
 TGCATTGCTT GCTTCCCTCT TTCCCCACCC CCTCCTTAAC CTCTTGATGT ATGAGAAGAA
 TATGAGTTAC TAATTTGATC CACTATTTGG GGATTGCTAA TAAAGCATTT TTGCATTTTA
 TTTTTTGCTT TTTAAAAATA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024524.13 ABBA01010135
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
ss118412689YRI 2IG1.00000000 1.00000000
ss132214136ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss133520918ENSEMBL_Watson 2IG1.00000000 1.00000000
ss1347729280EAS 1008AF 0.533699990.46629998
EUR 1006AF 0.517899990.48210001
AFR 1322AF 0.583999990.41600001
AMR 694AF 0.538900020.46109998
SAS 978AF 0.467300000.53270000
ss16355895PDR90Global 160IG0.250000000.500000000.25000000 0.500000000.50000000
ss1691251873ExAc_Aggregated_Populations121382AF 0.519516890.48048311
ss169156029YRISub-Saharan African 2IG1.00000000 1.00000000
ss170978723PGP 2IG1.00000000 1.00000000
ss199050822BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
ss226115649pilot_1_YRI_low_coverage_panel 118AF 0.508474590.49152541
ss236202447pilot_1_CEU_low_coverage_panel 120AF 0.474999990.52499998
ss242707326pilot_1_CHB+JPT_low_coverage_panel 120AF 0.533333360.46666667
ss43524925AoD_African_American 90AF 0.509999990.49000004
AoD_Caucasian 92AF 0.550000010.44999999
ss491678316CSAgilent 1189GF0.242000010.528999980.229000000.200325000.506500010.49349999
ss76894743HapMap-CEUEuropean 226IG0.265486720.398230080.336283180.050043000.464601760.53539824
HapMap-HCBAsian 86IG0.302325580.534883740.162790700.583882000.569767420.43023255
HapMap-JPTAsian 172IG0.325581400.546511650.127906980.250592000.598837200.40116280
HapMap-YRISub-Saharan African 226IG0.256637160.530973430.212389380.527089000.522123870.47787610
HAPMAP-ASW 98IG0.367346940.489795920.142857151.000000000.612244900.38775510
HAPMAP-CHBAsian 82IG0.243902440.463414640.292682920.654721000.475609750.52439022
HAPMAP-CHD 170IG0.270588250.529411790.200000000.583882000.535294120.46470588
HAPMAP-GIH 176IG0.272727280.488636370.238636361.000000000.517045440.48295453
HAPMAP-LWK 180IG0.344444450.477777780.177777781.000000000.583333310.41666666
HAPMAP-MEX 100IG0.200000000.579999980.220000000.273322000.490000010.50999999
HAPMAP-MKK 284IG0.197183100.535211270.267605630.371093000.464788730.53521127
HAPMAP-TSI 176IG0.329545470.465909090.204545450.654721000.562500000.43750000
ss97148192J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.499+/-0.0210000ALFRED: 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
UNKNOWNUNKNOWNYES

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