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Reference SNP (refSNP) Cluster Report: rs10509540                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
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:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.2474/1239 (1000 Genomes)
C=0.2548/31991 (TOPMED)
HGVS Names
  • CM000672.2:g.88263276T>C
  • NC_000010.10:g.90023033T>C
  • NC_000010.11:g.88263276T>C
  • XR_001747122.1:n.1037+11657A>G
  • XR_001747537.1:n.657-106803T>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 ss280715585 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10509540 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
ss14906605PERLEGEN|PS02283215byFreqfwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc11/13/0304/07/04119Genomicunknown
ss23566396PERLEGEN|afd2283215byFreqfwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc08/10/0409/13/04123Genomicunknown
ss65926429AFFY|SNP_A-1697947fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg10/26/0610/26/06127Genomicunknown
ss66539704ILLUMINA|HumanHap300v1.1_rs10509540fwd/TC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc11/09/0611/09/06127Genomicunknown
ss66892236ILLUMINA|HumanHap550v1.1_rs10509540fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc11/14/0611/14/06127Genomicunknown
ss66997319ILLUMINA|HumanHap650Yv1.0_rs10509540fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc11/14/0611/14/06127Genomicunknown
ss69086841PERLEGEN|PGP02283215byFreqfwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc01/30/0703/31/08127Genomicunknown
ss70373301ILLUMINA|HumanHap300v2.0_rs10509540fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc04/18/0711/18/07127Genomicunknown
ss70488217ILLUMINA|HumanHap550v3.0__rs10509540fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc04/20/0703/30/08130Genomicunknown
ss71012559ILLUMINA|HumanHap650Yv3.0_rs10509540fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc04/23/0704/23/07127Genomicunknown
ss75613932ILLUMINA|ILMN_Human_1M_rs10509540fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc08/28/0708/29/07129Genomicunknown
ss78077802HGSV|Cor12878_SNV_20070510.chr10_90013013byFreqfwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc10/17/0703/07/10129Genomicunknown
ss84969121KRIBB_YJKIM|KHS862470fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc12/04/0712/08/07130Genomicunknown
ss88302473BCMHGSC_JDW|JWB-0314353fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc02/26/0802/27/08129Genomicunknown
ss1096357561000GENOMES|CEU.trio.12.15.2008_2400515_chr10_90013013fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc12/16/0812/16/08130Genomicunknown
ss119258391ILLUMINA-UK|NA18507_000113417_NCBI36.1_chr10_90013013fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc01/21/0901/22/09130Genomic99 %
ss121350592ILLUMINA|HumanCNV370v1_C_rs10509540fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc04/14/0904/14/09131Genomicunknown
ss131997496ENSEMBL|ENSSNP10285286fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc05/11/0905/13/09131Genomicunknown
ss152774367ILLUMINA|Human610_Quadv1_B_rs10509540-128_B_F_1501604833fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc06/18/0906/19/09131Genomicunknown
ss159133093ILLUMINA|Human660W-Quad_v1_A_rs10509540-128_B_F_1501604833fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc07/06/0907/06/09131Genomicunknown
ss159906098ILLUMINA|HumanOmni1-Quad_v1-0_B_rs10509540-128_B_F_1501604833fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc08/04/0910/01/09131Genomicunknown
ss169510471ILLUMINA|HumanCNV370-Quadv3_C_rs10509540-128_B_F_1501604833fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc10/01/0910/02/09132Genomicunknown
ss170292298ILLUMINA|Human1M-Duov3_B_rs10509540-128_B_F_1501604833fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc10/01/0910/01/09132Genomicunknown
ss174679861COMPLETE_GENOMICS|NA20431_36_chr10_90013013fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc10/01/0910/04/09132Genomicunknown
ss201830498BUSHMAN|BUSHMAN-chr10-90013012fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc02/16/1003/08/10132Genomicunknown
ss207351509BCM-HGSC-SUB|BCM_CMT_1011-2073704fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc03/15/1003/18/10132Genomicunknown
ss2248615771000GENOMES|pilot_1_YRI_6671260_chr10_90013013fwd/C/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc04/22/1004/22/10132Genomicunknown
ss2352753241000GENOMES|pilot_1_CEU_4879953_chr10_90013013fwd/C/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc05/01/1005/01/10132Genomicunknown
ss2419624201000GENOMES|pilot_1_CHB+JPT_3847497_chr10_90013013fwd/C/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc05/01/1005/01/10132Genomicunknown
ss280715585GMI|GMI_AK_SNP_5035920fwd/C/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc12/16/1012/16/10137Genomicunknown
ss479304679ILLUMINA|HumanOmni2.5-4v1_B_rs10509540-128_B_F_1735633077fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg01/30/1210/28/16137Genomicunknown
ss479307746ILLUMINA|HumanOmniExpress-12v1_C_rs10509540-131_B_F_1853224042fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg01/30/1210/27/16137Genomicunknown
ss479690225ILLUMINA|HumanOmni1-Quad_v1-0_C_rs10509540-131_B_F_1853224042fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg01/30/1208/28/15146Genomicunknown
ss484452686ILLUMINA|HumanOmni2.5-4v1_D_rs10509540-131_B_F_1853224042fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg01/30/1210/27/16137Genomicunknown
ss491437855EXOME_CHIP|.GWAS._154081_chr_10_90023033fwd/BC/Tgtaggatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtgggatc03/05/1203/05/12137Genomicunknown
ss536618955ILLUMINA|HumanOmni5-4v1_B_rs10509540-131_B_F_1908657465fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg06/22/1208/29/15146Genomicunknown
ss562116337TISHKOFF|snp_chr10_90023033fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg11/22/1211/23/12138Genomicunknown
ss657125844SSMP|10_90023033fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg12/14/1202/12/15138Genomicunknown
ss778360035ILLUMINA|HumanOmni25Exome-8v1_A_rs10509540-131_B_F_1853224042fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/30/1307/10/15142Genomicunknown
ss780680568ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs10509540-131_B_F_1990477986fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/30/1307/10/15142Genomicunknown
ss782672889ILLUMINA|HumanOmni2.5-4v1_H_rs10509540-131_B_F_1853224042fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/30/1307/29/15142Genomicunknown
ss783353847ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs10509540-131_B_F_1990477986fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/31/1306/18/15142Genomicunknown
ss783641581ILLUMINA|HumanOmniExpressExome-8v1_A_rs10509540-131_B_F_1908657465fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/31/1306/18/15142Genomicunknown
ss825342912ILLUMINA|HumanCNV370v1_C_rs10509540-123_B_F_IFB1136441434:0fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg06/24/1311/21/14144Genomicunknown
ss831923579ILLUMINA|HumanOmniExpress-12v1_H_rs10509540-131_B_F_1853224042fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg09/17/1306/18/15144Genomicunknown
ss832645771ILLUMINA|Human660W-Quad_v1_C_rs10509540-131_B_F_1853224042fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg09/18/1307/02/15142Genomicunknown
ss833236460ILLUMINA|Human660W-Quad_v1_H_rs10509540-131_B_F_1853224042fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg09/18/1307/02/15142Genomicunknown
ss833814806ILLUMINA|HumanOmni2.5-8v1_A_rs10509540-131_B_F_1853224042fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg09/18/1307/29/15142Genomicunknown
ss987756675EVA-GONL|EVA-GONL_rs10509540fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg04/23/1404/25/14142Genomicunknown
ss1077182035JMKIDD_LAB|HGDP_WGS_chr10_90023033fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg07/10/1407/11/14142Genomicunknown
ss13384474371000GENOMES|PHASE3_V1_51142492fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg08/16/1408/16/14142Genomicunknown
ss1397588122HAMMER_LAB|HAMMER_LAB_rs10509540fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg09/30/1409/30/14146Genomicunknown
ss1426398009DDI|DDI_rs10509540fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg11/04/1411/04/14144Genomicunknown
ss1575270688EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10509540fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg02/19/1502/19/15144Genomicunknown
ss1597429539EVA_DECODE|EVA_DECODE_10_90013013_685526_rs10509540fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg03/02/1503/04/15144Genomicunknown
ss1625099659EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_90023033_28239211fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg03/04/1503/04/15144Genomicunknown
ss1668093692EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_90023033_28239211fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg03/04/1503/04/15144Genomicunknown
ss1713199123EVA_SVP|EVA_SVP_893490fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg03/12/1503/12/15144Genomicunknown
ss1751985576ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs10509540-131_B_F_1990477986fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/27/1506/09/15146Genomicunknown
ss1751985577ILLUMINA|OmniExpressExome-8v1-1_B_rs10509540-131_B_F_1908657465fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/27/1506/09/15146Genomicunknown
ss1806501524HAMMER_LAB|Hsieh_5519985fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg07/15/1507/16/15146Genomicunknown
ss1917849126ILLUMINA|HumanExome-12v1-1_B_exm-rs10509540-131_B_F_1990477986fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg10/16/1510/16/15147Genomicunknown
ss1931124906WEILL_CORNELL_DGM|SNV:chr10:90023033fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg10/16/1510/17/15147Genomicunknown
ss1946288372ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs10509540-131_B_F_1990477986fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg10/29/1510/29/15147Genomicunknown
ss1946288373ILLUMINA|HumanCoreExome-12v1-0_C_rs10509540-131_B_F_1908657465fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg10/29/1510/29/15147Genomicunknown
ss1959281258ILLUMINA|exm-rs10509540-131_B_F_1990477986fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg11/13/1511/13/15147Genomicunknown
ss1959281259ILLUMINA|rs10509540-131_B_F_1908657465fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg11/13/1511/13/15147Genomicunknown
ss1967189634GENOMED|rs10509540fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg02/16/1602/16/16147Genomicunknown
ss2026290205JJLAB|SNP6792760fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg08/29/1608/30/16149Genomicunknown
ss2094864542ILLUMINA|Immuno_BeadChip_11419691_B_imm_10_90013013-1_B_F_1670057179fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg09/27/1609/27/16150Genomicunknown
ss2095015850ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_10_90013013-1_B_F_2310576322fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg09/27/1609/27/16150Genomicunknown
ss2095015851ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs10509540-138_B_F_2264335119fwd/BC/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg09/27/1609/27/16150Genomicunknown
ss2154565591USC_VALOUEV|NC_000010.10:g.90023033T>Cfwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg11/17/1611/17/16150Genomicunknown
ss2176785463HUMAN_LONGEVITY|HLI-10-88263276-T-Cfwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg11/18/1611/18/16150Genomicunknown
ss2339888959TOPMED|10_90023033_T/Cfwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg11/19/1611/19/16150Genomicunknown
ss2627614161SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4306732fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg01/06/1701/06/17151Genomicunknown
ss2632742659ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs10509540-131_B_F_213fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg02/02/1702/02/17151Genomicunknown
ss2632742660ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs10509540-131_B_F_1908657fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg02/02/1702/02/17151Genomicunknown
ss2632742661ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs10509540-131_B_F_213fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg02/02/1702/02/17151Genomicunknown
ss2635017600ILLUMINA|Cancer_BeadChip_11459870_A_rs10509540-128_B_F_1735633077fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg02/02/1702/02/17151Genomicunknown
ss2698817024GRF|rs10509540fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg02/13/1702/13/17151Genomicunknown
ss2710716569ILLUMINA|Consortium-OncoArray_15047405_A_rs10509540-131_B_F_1908657465fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg03/22/1703/22/17151Genomicunknown
ss2891629931GNOMAD|rs10509540fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/19/1705/19/17151Genomicunknown
ss2984918664AFFY|Axiom_PsorMich_Affx-3812597fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/24/1705/24/17151Genomicunknown
ss2985567160AFFY|Axiom_Smokesc1_Affx-3812597fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/24/1705/24/17151Genomicunknown
ss3006893080SWEGEN|NC_000010.10:g.90023033T>Cfwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg05/30/1705/30/17151Genomicunknown
ss3021260994ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs10509540-131_B_F_1990477986fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg06/28/1706/28/17151Genomicunknown
ss3021260995ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs10509540-138_B_F_2268383236fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg06/28/1706/28/17151Genomicunknown
ss3026934659BIOINF_KMB_FNS_UNIBA|10.88263276T>Cfwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg07/05/1707/05/17151Genomicunknown
ss3126372870TOPMED|TOPMed_freeze_5?chr10:88,263,276fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg09/29/1709/29/17151Genomicunknown
ss3349241280CSHL|rs10509540fwd/C/Tatgtgattctgactcagagaaattaatggtgtctggaaagggggcatgtg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10509540|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CTGTTCTTGC ACTATTCAGA GGTGCCAGAA GGGGATTCTG GTCAAAGTAT GTGACTCGCG
 GGACATCTAG CCTTGTATTT GGTACTTGAT CAAGACATTA TGATTGTTAT ACTTCATTCT
 CGCCTCTATG GAGTCTGCTT GTGTTAATGT CTGATTTACC CAGGCTATTT GAGGCACTAT
 GTTGAAGTGG TTAAGAGTGT AAATTTCAGA GACAAACTAT TTCCTCTCTT AGGGCCTCAG
 TTTTCTCATC TGAAAAATGG AAATGATACT AGGTTTCTTC ATAGGTGAGA AAACAGCTTA
 GGGCAATATG TGGTCTAGCA CACATTGTGA GTAGTAAGTG TAATAATAAT AGTAATAATA
 ATGATAATAA TAAAGATGTT GAAAGAGAGG TAAACCCAAT AGATATTCAA GGAAAACTGA
 AGAGAATTTG AGGCAAGGGG AAGTGAAATT CATGACGAGA ATTTGAGCAG GTAGGATGTG
 ATTCTGACTC AGAGAAATTA
 Y
 ATGGTGTCTG GAAAGGGGGC ATGTGGGATC TCTGAGTGTC TAGAACAATT TTGTTACCTA
 AAAAATATCT TAAAGTCCTA AGCCAATGAA ATTTCATATA TTTGGATTTG AAGAATAATT
 TTTATTCTTC ATATTAACAT TGTTGTCAAT AACAGCACCA TCACAATCAA AAGTAGATTT
 ACTGTGAAGA TAATGAGGCT GTAGCTTCAG CCCCTCTCAT TTGCAGGGAC CCCTTCTAAA
 ACTCTGTGTT TGCTTTGTTT TCATTTTTTT TTCTTTTTCT TGAAGAGGGT TGCCACTGCT
 CCCAAGCCCA ACCCAAAATT GTTTTACTTC AGGGTCCTCA AAATCTGAAC CTGCCTTAAT
 TGCACTGATT GGGAAATAGG GGGGTATTGT TAAGGCCACA CATTCTGGAG TCAGAATGAC
 CTGAGTTCAA GTCTCAGCTC AGCTATTTGC TAACTAGGTT ACTTTAGGCA GATGATTTAA
 ACTTTCTGAG CCTAGGCATT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000010.8
dbSNP Blast Analysis
OMIM
613006
222100

  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
C/T
N
T
T/T
HWPC
N
T
ss119258391YRI 2IG 1.00000000 0.50000000 0.50000000
ss131997496ENSEMBL_Watson 2IG 1.00000000 0.50000000 0.50000000
ss1338447437EAS 1008AF 0.19350000 0.80650002
EUR 1006AF 0.25939998 0.74059999
AFR 1322AF 0.21630001 0.78369999
AMR 694AF 0.23630001 0.76370001
SAS 978AF 0.34050000 0.65950000
ss14906605AfAmAfrican American 12IG 0.50000000 0.50000000 0.25000000 0.75000000
CaucasianEuropean 22IG 0.27272728 0.727272751.000000000.13636364 0.86363637
AsianAsian 12IG 0.33333334 0.66666669 0.16666667 0.83333331
CEPHEuropean 10IG 1.00000000 1.00000000
PDpanelGlobal 36IG 0.38888890 0.611111100.583882000.19444445 0.80555558
CHMJAsian 74IG0.20270270 0.013513510.78378379 0.202702700.013513510.78378379
ss174679861PGP 2IG 1.00000000 0.50000000 0.50000000
ss201830498BANTU 2IG 1.00000000 0.50000000 0.50000000
ss224861577pilot_1_YRI_low_coverage_panel 118AF 0.17796610 0.82203388
ss235275324pilot_1_CEU_low_coverage_panel 120AF 0.29166666 0.70833331
ss23566396AFD_EUR_PANELEuropean 48IG 0.45833334 0.541666690.371093000.22916667 0.77083331
AFD_AFR_PANELAfrican American 44IG 0.090909090.36363637 0.545454560.751830000.27272728 0.72727275
AFD_CHN_PANELAsian 48IG 0.041666670.37500000 0.583333311.000000000.22916667 0.77083331
ss241962420pilot_1_CHB+JPT_low_coverage_panel 120AF 0.22499999 0.77499998
ss69086841HapMap-CEUEuropean 120IG 0.083333340.44999999 0.466666670.751830000.30833334 0.69166666
HapMap-HCBAsian 90IG 0.022222220.37777779 0.600000020.371093000.21111111 0.78888887
HapMap-JPTAsian 90IG 0.46666667 0.533333360.200325000.23333333 0.76666665
HapMap-YRISub-Saharan African 120IG 0.016666670.31666666 0.666666690.479500000.17500000 0.82499999
ss78077802HapMap-CEUEuropean 226IG 0.079646020.43362832 0.486725660.751830000.29646018 0.70353985
HapMap-HCBAsian 86IG 0.023255810.39534885 0.581395330.342782000.22093023 0.77906978
HapMap-JPTAsian 172IG 0.011627910.40697673 0.581395330.099721000.21511628 0.78488374
HapMap-YRISub-Saharan African 226IG 0.049645390.34751773 0.602836910.527089000.20796460 0.79203540
HAPMAP-ASW 98IG 0.056603770.39622641 0.547169800.751830000.25510204 0.74489796
HAPMAP-CHBAsian 82IG 0.51219511 0.487804890.150222000.25609756 0.74390244
HAPMAP-CHD 170IG 0.035294120.40000001 0.564705910.317310000.23529412 0.76470590
HAPMAP-GIH 176IG 0.147727270.46590909 0.386363631.000000000.38068181 0.61931819
HAPMAP-LWK 180IG 0.022222220.28888890 0.688888910.751830000.16666667 0.83333331
HAPMAP-MEX 100IG 0.116883110.33766234 0.545454560.099721000.25999999 0.74000001
HAPMAP-MKK 286IG 0.006993010.19580419 0.797202830.654721000.10489511 0.89510489
HAPMAP-TSI 176IG 0.045454550.38636363 0.568181810.583882000.23863636 0.76136363
ENSEMBL_Venter 2IG 1.00000000 1.00000000
AX-AM 20IG 0.10000000 0.899999981.000000000.05000000 0.94999999
AX-AT 20IG 0.300000010.40000001 0.300000010.583882000.50000000 0.50000000
AX-ME 10IG 0.60000002 0.40000001 0.30000001 0.69999999
CEU 120IG 0.083333340.44999999 0.466666670.751830000.30833334 0.69166666
CHB 90IG 0.022222220.37777779 0.600000020.371093000.21111111 0.78888887
CN-CC 52IG 0.15384616 0.846153861.000000000.07692308 0.92307693
CN-GA 60IG 0.133333340.20000000 0.666666690.020022000.23333333 0.76666665
CN-HM 52IG 0.038461540.23076923 0.730769220.583882000.15384616 0.84615386
CN-JI 62IG 0.19354838 0.806451621.000000000.09677419 0.90322578
CN-JN 58IG 0.034482760.41379312 0.551724140.527089000.24137931 0.75862068
CN-SH 42IG 0.52380955 0.476190480.273322000.26190478 0.73809522
CN-UG 52IG 0.153846160.30769232 0.538461570.200325000.30769232 0.69230771
CN-WA 112IG 0.125000000.44642857 0.428571431.000000000.34821430 0.65178573
ID-AL 38IG 0.52631581 0.473684220.294266000.26315790 0.73684210
ID-DY 24IG 0.166666670.16666667 0.666666690.099721000.25000000 0.75000000
ID-JA 68IG 0.058823530.20588236 0.735294100.200325000.16176471 0.83823532
ID-JV 38IG 0.157894730.47368422 0.368421051.000000000.39473686 0.60526317
ID-KR 34IG 0.117647060.41176471 0.470588241.000000000.32352942 0.67647058
ID-LA 40IG 0.150000010.50000000 0.349999991.000000000.40000001 0.60000002
ID-LE 38IG 0.210526320.52631581 0.263157901.000000000.47368422 0.52631581
ID-ML 24IG 0.58333331 0.416666660.317310000.29166666 0.70833331
ID-MT 30IG 0.133333340.20000000 0.666666690.099721000.23333333 0.76666665
ID-RA 34IG 0.117647060.64705884 0.235294120.200325000.44117647 0.55882353
ID-SB 40IG 0.50000000 0.500000000.342782000.25000000 0.75000000
ID-SO 38IG 0.105263160.42105263 0.473684221.000000000.31578946 0.68421054
ID-SU 50IG 0.120000000.40000001 0.479999990.751830000.31999999 0.68000001
ID-TB 40IG 0.300000010.30000001 0.400000010.099721000.44999999 0.55000001
ID-TR 40IG 0.150000010.25000000 0.600000020.099721000.27500001 0.72500002
IN-DR 48IG 0.125000000.50000000 0.375000000.751830000.37500000 0.62500000
IN-EL 32IG 0.250000000.37500000 0.375000000.342782000.43750000 0.56250000
IN-IL 30IG 0.266666680.46666667 0.266666681.000000000.50000000 0.50000000
IN-NI 40IG 0.050000000.44999999 0.500000000.583882000.27500001 0.72500002
IN-NL 30IG 0.066666670.53333336 0.400000010.479500000.33333334 0.66666669
IN-SP 46IG 0.173913050.30434781 0.521739130.150222000.32608697 0.67391306
IN-TB 46IG 0.217391300.26086956 0.521739130.050043000.34782609 0.65217394
IN-WI 50IG 0.120000000.51999998 0.360000010.654721000.38000000 0.62000000
IN-WL 28IG 0.214285720.42857143 0.357142870.654721000.42857143 0.57142860
JP-ML 142IG 0.112676050.39436620 0.492957740.527089000.30985916 0.69014084
JP-RK 98IG 0.020408160.36734694 0.612244900.371093000.20408164 0.79591835
JPT 88IG 0.47727272 0.522727250.200325000.23863636 0.76136363
KR-KR 178IG 0.067415730.33707866 0.595505600.583882000.23595506 0.76404494
MY-BD 100IG 0.259999990.40000001 0.340000000.200325000.46000001 0.54000002
MY-JH 100IG 0.040000000.23999999 0.720000030.479500000.16000000 0.83999997
MY-KN 36IG 0.44444445 0.555555580.479500000.22222222 0.77777779
MY-KS 60IG 0.133333340.33333334 0.533333360.273322000.30000001 0.69999999
MY-MN 40IG 0.050000000.44999999 0.500000000.583882000.27500001 0.72500002
MY-TM 96IG 0.020833330.43750000 0.541666690.200325000.23958333 0.76041669
PI-AE 12IG 0.666666690.33333334 0.83333331 0.16666667
PI-AG 16IG 1.00000000 1.00000000
PI-AT 42IG 0.047619050.33333334 0.619047641.000000000.21428572 0.78571427
PI-IR 18IG 0.33333334 0.66666669 0.16666667 0.83333331
PI-MA 36IG 0.055555560.38888890 0.555555581.000000000.25000000 0.75000000
PI-MW 38IG 0.10526316 0.894736831.000000000.05263158 0.94736844
PI-UB 40IG 0.34999999 0.649999980.654721000.17500000 0.82499999
PI-UI 40IG 0.050000000.30000001 0.649999981.000000000.20000000 0.80000001
PI-UN 38IG 0.052631580.31578946 0.631578921.000000000.21052632 0.78947371
SG-CH 60IG 0.033333340.30000001 0.666666691.000000000.18333334 0.81666666
SG-ID 60IG 0.233333330.33333334 0.433333340.099721000.40000001 0.60000002
SG-ML 60IG 0.033333340.26666668 0.699999991.000000000.16666667 0.83333331
TH-HM 40IG 0.150000010.25000000 0.600000020.099721000.27500001 0.72500002
TH-KA 40IG 0.30000001 0.699999990.751830000.15000001 0.85000002
TH-LW 38IG 0.105263160.15789473 0.736842100.050043000.18421052 0.81578946
TH-MA 36IG 0.166666670.44444445 0.388888901.000000000.38888890 0.61111110
TH-MO 38IG 0.052631580.15789473 0.789473710.200325000.13157895 0.86842108
TH-PL 36IG 0.222222220.44444445 0.333333340.751830000.44444445 0.55555558
TH-PP 36IG 0.27777779 0.722222210.751830000.13888890 0.86111110
TH-TK 36IG 0.22222222 0.777777791.000000000.11111111 0.88888890
TH-TL 40IG 0.30000001 0.699999990.751830000.15000001 0.85000002
TH-TN 36IG 0.16666667 0.833333311.000000000.08333334 0.91666669
TH-TU 40IG 0.34999999 0.649999980.654721000.17500000 0.82499999
TH-TY 36IG 0.11111111 0.888888901.000000000.05555556 0.94444442
TH-YA 38IG 0.052631580.42105263 0.526315810.751830000.26315790 0.73684210
TW-HA 96IG 0.041666670.27083334 0.687500000.654721000.17708333 0.82291669
TW-HB 64IG 0.031250000.18750000 0.781250000.438578000.12500000 0.87500000
YRI 120IG 0.016666670.31666666 0.666666690.479500000.17500000 0.82499999

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.372+/-0.2180000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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