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Reference SNP (refSNP) Cluster Report: rs12226920                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4113/49866 (ExAC)
T=0.4231/2119 (1000 Genomes)
T=0.2656/3454 (GO-ESP)
T=0.3037/38137 (TOPMED)
HGVS Names
  • CM000674.2:g.10997447G>T
  • NC_000012.11:g.11150046G>T
  • NC_000012.12:g.10997447G>T
  • NG_051254.1:g.5858C>A
  • NM_001291314.1:c.-125-23726C>A
  • NM_001291315.1:c.37-23726C>A
  • NM_001316893.1:c.141-23726C>A
  • NM_176889.3:c.429C>A
  • NP_795370.2:p.His143Gln
  • NR_037918.2:n.478-23726C>A
  • NR_133575.1:n.372-23726C>A
  • NT_187658.1:g.196142G>T
  • NW_003571047.1:g.196153G>T
  • NW_003571050.1:g.196153G>T
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 ss281274074 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12226920 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
ss18500022SC_SNP|SC-CHR9-12_NA11321-200402.chr12.NT_009714.16_3909020fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac02/20/0403/04/04120Genomicunknown
ss20865666SSAHASNP|WGSA-200403-chr12.chr12.NT_009714.16_3909020fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac03/19/0403/19/04121Genomicunknown
ss38862268ABI|hCV1326611byFreqfwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac07/16/0511/02/06126Genomicunknown
ss65730590ILLUMINA|Human1-rs12226920fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac10/10/0610/10/06127Genomicunknown
ss66540704ILLUMINA|HumanHap300v1.1_rs12226920fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac11/09/0611/09/06127Genomicunknown
ss66991981ILLUMINA|HumanHap550v1.1_rs12226920fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac11/14/0611/14/06127Genomicunknown
ss67167134ILLUMINA|HumanHap650Yv1.0_rs12226920fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac11/14/0611/14/06127Genomicunknown
ss70406923ILLUMINA|HumanHap300v2.0_rs12226920fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac04/18/0711/18/07127Genomicunknown
ss70560601ILLUMINA|HumanHap550v3.0__rs12226920fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac04/20/0703/30/08130Genomicunknown
ss71098633ILLUMINA|HumanHap650Yv3.0_rs12226920fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac04/23/0704/23/07127Genomicunknown
ss75747668ILLUMINA|ILMN_Human_1M_rs12226920fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac08/28/0708/29/07129Genomicunknown
ss85199299KRIBB_YJKIM|KHS925621fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac12/04/0712/08/07130Genomicunknown
ss97286309HUMANGENOME_JCVI|1103649367108fwd/BG/Tcacatttatatacgtgtttttcatcacaagtgacaaaccaaaaagaacaaagaccccaac03/28/0803/28/08130Genomicunknown
ss106787103BGI|BGI_rs12226920fwd/BG/Tcacatttatatacgtgtttttcatcacaagtgacaaaycaaaaagaacaaagaccccaac09/16/0810/21/09130Genomicunknown
ss1114830071000GENOMES|CEU.trio.12.15.2008_2677051_chr12_11041313fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac12/17/0812/17/08130Genomicunknown
ss121547928ILLUMINA|HumanCNV370v1_C_rs12226920fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac04/14/0904/14/09131Genomicunknown
ss132063123ENSEMBL|ENSSNP667083fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac12/08/0810/14/09131Genomicunknown
ss153157752ILLUMINA|Human610_Quadv1_B_rs12226920-128_B_F_1501657305fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac06/18/0906/19/09131Genomicunknown
ss157110102GMI|GMI_SNP_114877720fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac06/24/0906/25/09131Genomicunknown
ss159209046ILLUMINA|Human660W-Quad_v1_A_rs12226920-128_B_F_1501657305fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac07/06/0907/06/09131Genomicunknown
ss159725714SEATTLESEQ|TAS2R49-11041313fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac07/10/0907/10/09131Genomicunknown
ss160042989ILLUMINA|HumanOmni1-Quad_v1-0_B_rs12226920-128_B_F_1501657305fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac08/04/0910/01/09131Genomicunknown
ss167786958COMPLETE_GENOMICS|NA07022_36_chr12_11041313fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac09/30/0909/30/09132Genomicunknown
ss170077668ILLUMINA|HumanCNV370-Quadv3_C_rs12226920-128_B_F_1501657305fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac10/01/0910/03/09132Genomicunknown
ss170400928COMPLETE_GENOMICS|NA20431_36_chr12_11041313fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac10/01/0910/05/09132Genomicunknown
ss171943795ILLUMINA|Human1M-Duov3_B_rs12226920-128_B_F_1501657305fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac10/01/0910/01/09132Genomicunknown
ss203546876BUSHMAN|BUSHMAN-chr12-11041312fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac02/16/1003/09/10132Genomicunknown
ss2256053051000GENOMES|pilot_1_YRI_7414988_chr12_11041313fwd/G/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac04/22/1004/22/10132Genomicunknown
ss2358223461000GENOMES|pilot_1_CEU_5426975_chr12_11041313fwd/G/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac05/01/1005/01/10132Genomicunknown
ss2424014611000GENOMES|pilot_1_CHB+JPT_4286538_chr12_11041313fwd/G/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac05/01/1005/01/10132Genomicunknown
ss281274074GMI|GMI_AK_SNP_5594463fwd/G/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac12/16/1012/16/10137Genomicunknown
ss286505822GMI|GMI_NA10851_SNP_2518613fwd/G/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac12/17/1012/17/10138Genomicunknown
ss291379785PJP|SNP_886143_chr12_11041313fwd/G/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac01/21/1101/21/11134Genomicunknown
ss342349984NHLBI-ESP|ESP2500-chr12-11150046byFreqfwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac03/25/1109/05/14134Genomicunknown
ss479697622ILLUMINA|HumanOmni2.5-4v1_B_rs12226920-128_B_F_1765848588fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc01/30/1210/28/16137Genomicunknown
ss479703276ILLUMINA|HumanOmniExpress-12v1_C_rs12226920-131_B_F_1857392764fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc01/30/1210/27/16137Genomicunknown
ss480237508ILLUMINA|HumanOmni1-Quad_v1-0_C_rs12226920-131_B_F_1865768249fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc01/30/1208/28/15146Genomicunknown
ss484647324ILLUMINA|HumanOmni2.5-4v1_D_rs12226920-131_B_F_1857392764fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc01/30/1210/27/16137Genomicunknown
ss4910371071000GENOMES|20110521_exome_544905_chr12_11150046fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac02/10/1202/22/12137Genomicunknown
ss491464360EXOME_CHIP|nonsyn_180586_chr_12_11150046fwd/BG/Tcacatttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagaccccaac03/05/1203/05/12137Genomicunknown
ss491660646CLINSEQ_SNP|SNV-chr12-11041313byFreqfwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc03/06/1209/05/14137Genomicunknown
ss536449058ILLUMINA|HumanOmni5-4v1_B_kgp9384761-0_B_F_1802793411fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc06/22/1208/29/15146Genomicunknown
ss562992200TISHKOFF|snp_chr12_11150046fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc11/22/1211/23/12138Genomicunknown
ss658523785SSMP|12_11150046fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc12/14/1202/13/15138Genomicunknown
ss778777047ILLUMINA|HumanOmni25Exome-8v1_A_rs12226920-131_B_F_1865768249fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/30/1307/10/15146Genomicunknown
ss780908152ILLUMINA|HumanOmni25Exome-8v1_A_exm984298-0_B_F_1922508541fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/30/1307/10/15146Genomicunknown
ss782770496ILLUMINA|HumanOmni2.5-4v1_H_rs12226920-131_B_F_1857392764fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/30/1307/29/15146Genomicunknown
ss783595602ILLUMINA|HumanOmniExpressExome-8v1_A_exm984298-0_B_F_1922508541fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/31/1306/18/15146Genomicunknown
ss783736689ILLUMINA|HumanOmniExpressExome-8v1_A_rs12226920-131_B_F_1893993203fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/31/1306/18/15146Genomicunknown
ss825376197ILLUMINA|HumanCNV370v1_C_rs12226920-126_B_F_IFB1136424218:0fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc06/24/1311/21/14144Genomicunknown
ss832022909ILLUMINA|HumanOmniExpress-12v1_H_rs12226920-131_B_F_1857392764fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc09/17/1306/18/15146Genomicunknown
ss834236950ILLUMINA|HumanOmni2.5-8v1_A_rs12226920-131_B_F_1865768249fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc09/18/1307/29/15146Genomicunknown
ss989237365EVA-GONL|EVA-GONL_rs12226920fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc04/23/1404/25/14142Genomicunknown
ss1067531717JMKIDD_LAB|HGDP_exomes_chr12_11150046fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc07/09/1407/09/14142Genomicunknown
ss1078246124JMKIDD_LAB|HGDP_WGS_chr12_11150046fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc07/10/1407/12/14142Genomicunknown
ss13439097701000GENOMES|PHASE3_V1_56825445fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc08/16/1408/16/14142Genomicunknown
ss1397625644HAMMER_LAB|HAMMER_LAB_rs12226920fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc09/30/1409/30/14146Genomicunknown
ss1426843540DDI|DDI_rs12226920fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc11/04/1411/04/14144Genomicunknown
ss1576112912EVA_GENOME_DK|EVA_GENOME_DK_snv_rs12226920fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc02/19/1502/19/15144Genomicunknown
ss1598906634EVA_DECODE|EVA_DECODE_12_11041313_86055_rs12226920fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc03/02/1503/04/15144Genomicunknown
ss1628011347EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11150046_31435917fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc03/04/1503/04/15144Genomicunknown
ss1671005380EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11150046_31435917fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc03/04/1503/04/15144Genomicunknown
ss1690795286EVA_EXAC|EVA_EXAC_6012506fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc03/04/1503/04/15144Genomicunknown
ss1711321240EVA_MGP|EVA_XIMO_437000fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc03/09/1503/09/15144Genomicunknown
ss1713306829EVA_SVP|EVA_SVP_1001196fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc03/12/1503/12/15144Genomicunknown
ss1752046428ILLUMINA|OmniExpressExome-8v1-1_B_exm984298-0_B_F_1922508541fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/27/1506/09/15146Genomicunknown
ss1752046429ILLUMINA|OmniExpressExome-8v1-1_B_rs12226920-131_B_F_1893993203fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/27/1506/09/15146Genomicunknown
ss1807119923HAMMER_LAB|Hsieh_6140780fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc07/15/1507/16/15146Genomicunknown
ss1917870889ILLUMINA|HumanExome-12v1-1_B_exm984298-0_B_F_1922508541fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc10/16/1510/16/15147Genomicunknown
ss1932602914WEILL_CORNELL_DGM|SNV:chr12:11150046fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc10/16/1510/17/15147Genomicunknown
ss1946331636ILLUMINA|HumanCoreExome-12v1-0_C_exm984298-0_B_F_1922508541fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc10/29/1510/29/15147Genomicunknown
ss1959413373ILLUMINA|exm984298-0_B_F_1922508541fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc11/13/1511/13/15147Genomicunknown
ss1967522458GENOMED|rs12226920fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc02/16/1602/16/16147Genomicunknown
ss2027045970JJLAB|SNP7548525fwd/BG/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc08/29/1608/30/16149Genomicunknown
ss2155368698USC_VALOUEV|NC_000012.11:g.11150046G>Tfwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc11/17/1611/17/16150Genomicunknown
ss2187770085HUMAN_LONGEVITY|HLI-12-10997447-G-Tfwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc11/18/1611/18/16150Genomicunknown
ss2351407830TOPMED|12_11150046_G/Tfwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc11/19/1611/19/16150Genomicunknown
ss2628001759SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4795776fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc01/06/1701/06/17151Genomicunknown
ss2632924845ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs12226920-131_B_F_1893993fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc02/02/1702/02/17151Genomicunknown
ss2699693764GRF|rs12226920fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc02/13/1702/13/17151Genomicunknown
ss2710754057ILLUMINA|Consortium-OncoArray_15047405_A_rs12226920-131_B_F_1893993203fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc03/22/1703/22/17151Genomicunknown
ss2739639345GNOMAD|exomes_rs12226920fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/17/1705/17/17151Genomicunknown
ss2748815259GNOMAD|coding_rs12226920fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/17/1705/17/17151Genomicunknown
ss2907331403GNOMAD|rs12226920fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/22/1705/22/17151Genomicunknown
ss2984968007AFFY|Axiom_PsorMich_Affx-6877625fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/24/1705/24/17151Genomicunknown
ss3009203926SWEGEN|NC_000012.11:g.11150046G>Tfwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc05/30/1705/30/17151Genomicunknown
ss3021406084ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm984298-0_B_F_1922508541fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc06/28/1706/28/17151Genomicunknown
ss3023067422EVA_SAMSUNG_MC|EXOMES.12:g11150046g>tfwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc07/03/1707/03/17151Genomicunknown
ss3027327558BIOINF_KMB_FNS_UNIBA|12.10997447G>Tfwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc07/05/1707/05/17151Genomicunknown
ss3162930384TOPMED|TOPMed_freeze_5?chr12:10,997,447fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc09/30/1709/30/17151Genomicunknown
ss3349923135CSHL|rs12226920fwd/G/Tttatatacgtgtgtttcatcacaagtgacaaaccaaaaagaacaaagacc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12226920|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 TATGGAGTTG ACTGGTTCTG TCCTTTTGCC CAGCAAGTCA CCTGCCACAA AACTGAAAGA
 AAGGTCTGCT TTAGCGTCTT GTTCCCCCAA ATCAGAATGA ATGAGTGGAA TGATGGATAT
 ATGATTCCAA AAGCTTGGCA AAGCATTAAG ACAATTTCTT TTGGTCGCAT CTTAAAATTC
 CAAAACGATA TGATTAGACA CAGAAAGTAA ATGGCAAGTA ATATGAGGAA GGAGGTCACA
 GTTTGCAGAG CTTTTATGTG GATCTTGGTG CTGGGATCTT GAGATCCTTT GCCATGGAGC
 TGCATCTTCT TCAGATGTTT ACACAGAGAG TAGATTAACA GCAGAAAAGA TATCAGGGTC
 AGAGTGAATG GTATCAAGTT TGCTAGCATG GCTACAGTCA AGTTGGAAAG GTGCATTGCA
 TTCCTCAGTT TGATCTTCCA AGTTACGTTT CCTTCACATT CTTCTGTCCA CACATTTATA
 TACGTGTGTT TCATCACAAG
 K
 TGACAAACCA AAAAGAACAA AGACCCCAAC ACTATCACCA GAACTACACT CTTAGCCTTC
 CTTTTTAAGT GATGAAAAAT AAGTCTGGAG AAATTGACGA TCTTGAGCAA ATAAAATATG
 CTGAGGCTAG TAGCAAGCCA GATGCTGAAA TGATTGGTTA CTGCCCAGGC ATTAGAAATA
 AAAATTATTA CTTTTAAATT AGATGAAGTT GGATTCAACA CAGTTGAATA CCAATGTAAT
 AATATTACCC AGAGCAAACC AACTCTGGAG ACTGCCAGAG CAGCAATAAT TTGATCAGCT
 GAGGAGATCT TTTGTCTCTT GACCCAGGCA ATGAAATTTA TCAGTGCTAT AAAGCCATTG
 GCAAAATTTC CAAGAATAAA TGCAACCACT ACTAGAATGG AAAAAACAAT GTGTAGAAAA
 CTCATCATGT CTAAACAAAA AAGCAAGTAA AAAATTCAGG CCTAATGTCA CTGATGGTGA
 CTCCTCTGAT ATTCAAGACT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 ABBA01067808
dbSNP Blast Analysis
UniGene Cluster ID
504733

  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.
SourceG/G
G/T
T/T
HWPG
T
ss132063123ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss1343909770EAS 1008AF 0.245000000.75500000
EUR 1006AF 0.617299970.38270000
AFR 1322AF 0.934899990.06510000
AMR 694AF 0.615300000.38470003
SAS 978AF 0.366100010.63390005
ss167786958CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss1690795286ExAc_Aggregated_Populations121410AF 0.588839470.41116053
ss170400928PGP 2IG 1.00000000 0.500000000.50000000
ss203546876BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss225605305pilot_1_YRI_low_coverage_panel 118AF 0.940677940.05932203
ss235822346pilot_1_CEU_low_coverage_panel 120AF 0.658333360.34166667
ss242401461pilot_1_CHB+JPT_low_coverage_panel 120AF 0.258333330.74166667
ss342349984ESP_Cohort_Populations 4550GF0.586373630.334945050.078681320.001000000.753846170.24615385
ss38862268HapMap-CEUEuropean 226IG0.442477880.442477880.115044251.000000000.663716790.33628318
HapMap-HCBAsian 84IG0.071428570.404761910.523809551.000000000.273809520.72619045
HapMap-JPTAsian 172IG0.058139540.337209310.604651150.751830000.226744190.77325583
HapMap-YRISub-Saharan African 224IG0.875000000.12500000 1.000000000.937500000.06250000
HAPMAP-ASW 98IG0.816326560.163265300.020408160.479500000.897959170.10204082
HAPMAP-CHBAsian 82IG0.048780490.365853670.585365831.000000000.231707320.76829267
HAPMAP-CHD 168IG0.083333340.333333340.583333310.317310000.250000000.75000000
HAPMAP-GIH 174IG0.137931030.379310340.482758610.200325000.327586200.67241377
HAPMAP-LWK 180IG0.888888900.11111111 1.000000000.944444420.05555556
HAPMAP-MEX 98IG0.204081640.571428600.224489790.317310000.489795920.51020408
HAPMAP-MKK 286IG0.748251740.244755240.006993010.317310000.870629370.12937063
HAPMAP-TSI 174IG0.275862070.528735640.195402290.583882000.540229860.45977011
ENSEMBL_Watson 2IG1.00000000 1.00000000
ss491660646CSAgilent 1313GF0.377000000.486000000.136999990.438578000.620000000.38000000
ss97286309J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.484+/-0.0870000ALFRED: 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
UNKNOWNUNKNOWNUNKNOWN

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