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Reference SNP (refSNP) Cluster Report: rs12226919                 
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:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4130/50070 (ExAC)
T=0.4283/2145 (1000 Genomes)
T=0.2720/3538 (GO-ESP)
T=0.3093/38841 (TOPMED)
HGVS Names
  • CM000674.2:g.10997434G>T
  • NC_000012.11:g.11150033G>T
  • NC_000012.12:g.10997434G>T
  • NG_051254.1:g.5871C>A
  • NM_001291314.1:c.-125-23713C>A
  • NM_001291315.1:c.37-23713C>A
  • NM_001316893.1:c.141-23713C>A
  • NM_176889.3:c.442C>A
  • NP_795370.2:p.His148Asn
  • NR_037918.2:n.478-23713C>A
  • NR_133575.1:n.372-23713C>A
  • NT_187658.1:g.196129G>T
  • NW_003571047.1:g.196140G>T
  • NW_003571050.1:g.196140G>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 ss281274073 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12226919 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
ss18500019SC_SNP|SC-CHR9-12_NA11321-200402.chr12.NT_009714.16_3909007fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa02/20/0403/04/04120Genomicunknown
ss20865610SSAHASNP|WGSA-200403-chr12.chr12.NT_009714.16_3909007fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa03/19/0403/19/04121Genomicunknown
ss38907403ABI|hCV1326610byFreqfwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa07/16/0511/02/06126Genomicunknown
ss65725509ILLUMINA|Human1-rs12226919fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa10/10/0610/10/06127Genomicunknown
ss66669477ILLUMINA|HumanHap300v1.1_rs12226919fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa11/09/0611/09/06127Genomicunknown
ss66991979ILLUMINA|HumanHap550v1.1_rs12226919fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa11/14/0611/14/06127Genomicunknown
ss67167132ILLUMINA|HumanHap650Yv1.0_rs12226919fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa11/14/0611/14/06127Genomicunknown
ss70406922ILLUMINA|HumanHap300v2.0_rs12226919fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa04/18/0711/18/07127Genomicunknown
ss70560600ILLUMINA|HumanHap550v3.0__rs12226919rev/TA/Cttctttttggtttgtcaccttgtgatgaaaacacgtatataaatgtgtggacagaagaat04/20/0703/30/08130Genomicunknown
ss71098632ILLUMINA|HumanHap650Yv3.0_rs12226919fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa04/23/0704/23/07127Genomicunknown
ss75582122ILLUMINA|ILMN_Human_1M_rs12226919fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa08/28/0708/29/07129Genomicunknown
ss85199297KRIBB_YJKIM|KHS925620fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa12/04/0712/08/07130Genomicunknown
ss97286308HUMANGENOME_JCVI|1103649367109fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa03/28/0803/28/08130Genomicunknown
ss106787102BGI|BGI_rs12226919fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaagttgacaaaycaaaaagaa09/16/0810/21/09130Genomicunknown
ss1114829991000GENOMES|CEU.trio.12.15.2008_2677050_chr12_11041300fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa12/17/0812/17/08130Genomicunknown
ss121547922ILLUMINA|HumanCNV370v1_C_rs12226919fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa04/14/0904/14/09131Genomicunknown
ss132063119ENSEMBL|ENSSNP667082fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa12/08/0810/14/09131Genomicunknown
ss153157746ILLUMINA|Human610_Quadv1_B_rs12226919-128_T_R_1501641281rev/TA/Cttctttttggtttgtcaccttgtgatgaaaacacgtatataaatgtgtggacagaagaat06/18/0906/19/09131Genomicunknown
ss157110094GMI|GMI_SNP_145731976fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa06/24/0906/25/09131Genomicunknown
ss159209045ILLUMINA|Human660W-Quad_v1_A_rs12226919-128_T_R_1501641281rev/TA/Cttctttttggtttgtcaccttgtgatgaaaacacgtatataaatgtgtggacagaagaat07/06/0907/06/09131Genomicunknown
ss159725713SEATTLESEQ|TAS2R49-11041300fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa07/10/0907/10/09131Genomicunknown
ss160042988ILLUMINA|HumanOmni1-Quad_v1-0_B_rs12226919-128_T_R_1501641281rev/TA/Cttctttttggtttgtcaccttgtgatgaaaacacgtatataaatgtgtggacagaagaat08/04/0910/01/09131Genomicunknown
ss167786945COMPLETE_GENOMICS|NA07022_36_chr12_11041300fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa09/30/0909/30/09132Genomicunknown
ss170077653ILLUMINA|HumanCNV370-Quadv3_C_rs12226919-128_T_R_1501641281rev/TA/Cttctttttggtttgtcaccttgtgatgaaaacacgtatataaatgtgtggacagaagaat10/01/0910/03/09132Genomicunknown
ss170400912COMPLETE_GENOMICS|NA20431_36_chr12_11041300fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa10/01/0910/05/09132Genomicunknown
ss171943786ILLUMINA|Human1M-Duov3_B_rs12226919-128_T_R_1501641281rev/TA/Cttctttttggtttgtcaccttgtgatgaaaacacgtatataaatgtgtggacagaagaat10/01/0910/01/09132Genomicunknown
ss203546872BUSHMAN|BUSHMAN-chr12-11041299fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa02/16/1003/09/10132Genomicunknown
ss2256053041000GENOMES|pilot_1_YRI_7414987_chr12_11041300fwd/G/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa04/22/1004/22/10132Genomicunknown
ss2358223451000GENOMES|pilot_1_CEU_5426974_chr12_11041300fwd/G/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa05/01/1005/01/10132Genomicunknown
ss2424014601000GENOMES|pilot_1_CHB+JPT_4286537_chr12_11041300fwd/G/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa05/01/1005/01/10132Genomicunknown
ss281274073GMI|GMI_AK_SNP_5594462fwd/G/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa12/16/1012/16/10137Genomicunknown
ss286505821GMI|GMI_NA10851_SNP_2518612fwd/G/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa12/17/1012/17/10138Genomicunknown
ss291379784PJP|SNP_886142_chr12_11041300fwd/G/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa01/21/1101/21/11134Genomicunknown
ss342349983NHLBI-ESP|ESP2500-chr12-11150033byFreqfwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa03/25/1109/05/14134Genomicunknown
ss479697618ILLUMINA|HumanOmni2.5-4v1_B_rs12226919-128_T_R_1765027079fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa01/30/1210/28/16137Genomicunknown
ss479703272ILLUMINA|HumanOmniExpress-12v1_C_rs12226919-131_T_R_1857392762fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa01/30/1210/27/16137Genomicunknown
ss480237504ILLUMINA|HumanOmni1-Quad_v1-0_C_rs12226919-131_T_R_1865710945fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa01/30/1208/28/15146Genomicunknown
ss484647322ILLUMINA|HumanOmni2.5-4v1_D_rs12226919-131_T_R_1857392762fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa01/30/1210/27/16137Genomicunknown
ss4910371061000GENOMES|20110521_exome_544904_chr12_11150033fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa02/10/1202/22/12137Genomicunknown
ss491464359EXOME_CHIP|nonsyn_180585_chr_12_11150033fwd/BG/Tattcttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaaaagaa03/05/1203/05/12137Genomicunknown
ss491660645CLINSEQ_SNP|SNV-chr12-11041300byFreqfwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa03/06/1209/05/14137Genomicunknown
ss536422468ILLUMINA|HumanOmni5-4v1_B_kgp9235733-0_B_F_1803053529fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa06/22/1208/29/15146Genomicunknown
ss562992198TISHKOFF|snp_chr12_11150033fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa11/22/1211/23/12138Genomicunknown
ss658523784SSMP|12_11150033fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa12/14/1202/13/15138Genomicunknown
ss778777046ILLUMINA|HumanOmni25Exome-8v1_A_rs12226919-131_T_R_1866967118fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/30/1307/10/15146Genomicunknown
ss780908151ILLUMINA|HumanOmni25Exome-8v1_A_exm984296-0_B_F_1922561987fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/30/1307/10/15146Genomicunknown
ss782770495ILLUMINA|HumanOmni2.5-4v1_H_rs12226919-131_T_R_1857392762fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/30/1307/29/15146Genomicunknown
ss783595601ILLUMINA|HumanOmniExpressExome-8v1_A_exm984296-0_B_F_1922561987fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/31/1306/18/15146Genomicunknown
ss783736688ILLUMINA|HumanOmniExpressExome-8v1_A_rs12226919-131_T_R_1889520174fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/31/1306/18/15146Genomicunknown
ss825376196ILLUMINA|HumanCNV370v1_C_rs12226919-126_T_R_IFB1135729132:0fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa06/24/1311/21/14144Genomicunknown
ss832022908ILLUMINA|HumanOmniExpress-12v1_H_rs12226919-131_T_R_1857392762fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa09/17/1306/18/15146Genomicunknown
ss834236949ILLUMINA|HumanOmni2.5-8v1_A_rs12226919-131_T_R_1866967118fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa09/18/1307/29/15146Genomicunknown
ss989237364EVA-GONL|EVA-GONL_rs12226919fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa04/23/1404/25/14142Genomicunknown
ss1067531716JMKIDD_LAB|HGDP_exomes_chr12_11150033fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa07/09/1407/09/14142Genomicunknown
ss1078246123JMKIDD_LAB|HGDP_WGS_chr12_11150033fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa07/10/1407/12/14142Genomicunknown
ss13439097691000GENOMES|PHASE3_V1_56825444fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa08/16/1408/16/14142Genomicunknown
ss1397625643HAMMER_LAB|HAMMER_LAB_rs12226919fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa09/30/1409/30/14146Genomicunknown
ss1426843539DDI|DDI_rs12226919fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa11/04/1411/04/14144Genomicunknown
ss1576112911EVA_GENOME_DK|EVA_GENOME_DK_snv_rs12226919fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa02/19/1502/19/15144Genomicunknown
ss1584080362EVA_FINRISK|EVA_FINRISK_rs12226919fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa02/27/1502/27/15144Genomicunknown
ss1598906633EVA_DECODE|EVA_DECODE_12_11041300_86054_rs12226919fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa03/02/1503/04/15144Genomicunknown
ss1628011346EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11150033_31435916fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa03/04/1503/04/15144Genomicunknown
ss1671005379EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11150033_31435916fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa03/04/1503/04/15144Genomicunknown
ss1690795284EVA_EXAC|EVA_EXAC_6012504fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa03/04/1503/04/15144Genomicunknown
ss1711321239EVA_MGP|EVA_XIMO_436999fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa03/09/1503/09/15144Genomicunknown
ss1713306828EVA_SVP|EVA_SVP_1001195fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa03/12/1503/12/15144Genomicunknown
ss1752046426ILLUMINA|OmniExpressExome-8v1-1_B_exm984296-0_B_F_2060143323fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/27/1506/09/15146Genomicunknown
ss1752046427ILLUMINA|OmniExpressExome-8v1-1_B_rs12226919-131_T_R_1889520174fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/27/1506/09/15146Genomicunknown
ss1807119922HAMMER_LAB|Hsieh_6140779fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa07/15/1507/16/15146Genomicunknown
ss1917870888ILLUMINA|HumanExome-12v1-1_B_exm984296-0_B_F_2060143323fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa10/16/1510/16/15147Genomicunknown
ss1932602913WEILL_CORNELL_DGM|SNV:chr12:11150033fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa10/16/1510/17/15147Genomicunknown
ss1946331635ILLUMINA|HumanCoreExome-12v1-0_C_exm984296-0_B_F_2060143323fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa10/29/1510/29/15147Genomicunknown
ss1959413372ILLUMINA|exm984296-0_B_F_1922561987fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa11/13/1511/13/15147Genomicunknown
ss1967522457GENOMED|rs12226919fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa02/16/1602/16/16147Genomicunknown
ss2027045969JJLAB|SNP7548524fwd/BG/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa08/29/1608/30/16149Genomicunknown
ss2155368697USC_VALOUEV|NC_000012.11:g.11150033G>Tfwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa11/17/1611/17/16150Genomicunknown
ss2187770083HUMAN_LONGEVITY|HLI-12-10997434-G-Tfwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa11/18/1611/18/16150Genomicunknown
ss2351407828TOPMED|12_11150033_G/Tfwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa11/19/1611/19/16150Genomicunknown
ss2628001758SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4795775fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa01/06/1701/06/17151Genomicunknown
ss2632924844ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs12226919-131_T_R_1889520fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa02/02/1702/02/17151Genomicunknown
ss2699693763GRF|rs12226919fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa02/13/1702/13/17151Genomicunknown
ss2739639343GNOMAD|exomes_rs12226919fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/17/1705/17/17151Genomicunknown
ss2748815256GNOMAD|coding_rs12226919fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/17/1705/17/17151Genomicunknown
ss2907331400GNOMAD|rs12226919fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/22/1705/22/17151Genomicunknown
ss2984968006AFFY|Axiom_PsorMich_Affx-6877623fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/24/1705/24/17151Genomicunknown
ss2985610396AFFY|Axiom_Smokesc1_Affx-6877623fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/24/1705/24/17151Genomicunknown
ss3009203925SWEGEN|NC_000012.11:g.11150033G>Tfwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa05/30/1705/30/17151Genomicunknown
ss3021406083ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm984296-0_B_F_1922561987fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa06/28/1706/28/17151Genomicunknown
ss3023067421EVA_SAMSUNG_MC|EXOMES.12:g11150033g>tfwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa07/03/1707/03/17151Genomicunknown
ss3027327557BIOINF_KMB_FNS_UNIBA|12.10997434G>Tfwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa07/05/1707/05/17151Genomicunknown
ss3162930379TOPMED|TOPMed_freeze_5?chr12:10,997,434fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa09/30/1709/30/17151Genomicunknown
ss3349923134CSHL|rs12226919fwd/G/Ttctgtccacacatttatatacgtgttttcatcacaaggtgacaaaccaaa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12226919|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 CCTCTTGTGA ATCTATGGAG TTGACTGGTT CTGTCCTTTT GCCCAGCAAG TCACCTGCCA
 CAAAACTGAA AGAAAGGTCT GCTTTAGCGT CTTGTTCCCC CAAATCAGAA TGAATGAGTG
 GAATGATGGA TATATGATTC CAAAAGCTTG GCAAAGCATT AAGACAATTT CTTTTGGTCG
 CATCTTAAAA TTCCAAAACG ATATGATTAG ACACAGAAAG TAAATGGCAA GTAATATGAG
 GAAGGAGGTC ACAGTTTGCA GAGCTTTTAT GTGGATCTTG GTGCTGGGAT CTTGAGATCC
 TTTGCCATGG AGCTGCATCT TCTTCAGATG TTTACACAGA GAGTAGATTA ACAGCAGAAA
 AGATATCAGG GTCAGAGTGA ATGGTATCAA GTTTGCTAGC ATGGCTACAG TCAAGTTGGA
 AAGGTGCATT GCATTCCTCA GTTTGATCTT CCAAGTTACG TTTCCTTCAC ATTCTTCTGT
 CCACACATTT ATATACGTGT
 K
 TTTCATCACA AGGTGACAAA CCAAAAAGAA CAAAGACCCC AACACTATCA CCAGAACTAC
 ACTCTTAGCC TTCCTTTTTA AGTGATGAAA AATAAGTCTG GAGAAATTGA CGATCTTGAG
 CAAATAAAAT ATGCTGAGGC TAGTAGCAAG CCAGATGCTG AAATGATTGG TTACTGCCCA
 GGCATTAGAA ATAAAAATTA TTACTTTTAA ATTAGATGAA GTTGGATTCA ACACAGTTGA
 ATACCAATGT AATAATATTA CCCAGAGCAA ACCAACTCTG GAGACTGCCA GAGCAGCAAT
 AATTTGATCA GCTGAGGAGA TCTTTTGTCT CTTGACCCAG GCAATGAAAT TTATCAGTGC
 TATAAAGCCA TTGGCAAAAT TTCCAAGAAT AAATGCAACC ACTACTAGAA TGGAAAAAAC
 AATGTGTAGA AAACTCATCA TGTCTAAACA AAAAAGCAAG TAAAAAATTC AGGCCTAATG
 TCACTGATGG TGACTCCTCT

  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
ss132063119ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss1343909769EAS 1008AF 0.245000000.75500000
EUR 1006AF 0.617299970.38270000
AFR 1322AF 0.915300010.08470000
AMR 694AF 0.615300000.38470003
SAS 978AF 0.366100010.63390005
ss167786945CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss1690795284ExAc_Aggregated_Populations121410AF 0.587134480.41286549
ss170400912PGP 2IG 1.00000000 0.500000000.50000000
ss203546872BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss225605304pilot_1_YRI_low_coverage_panel 118AF 0.940677940.05932203
ss235822345pilot_1_CEU_low_coverage_panel 120AF 0.666666690.33333334
ss242401460pilot_1_CHB+JPT_low_coverage_panel 120AF 0.258333330.74166667
ss342349983ESP_Cohort_Populations 4548GF0.568161850.350923480.080914690.001000000.743623550.25637642
ss38907403HapMap-CEUEuropean 224IG0.446428570.437500000.116071431.000000000.665178600.33482143
HapMap-HCBAsian 84IG0.071428570.404761910.523809551.000000000.273809520.72619045
HapMap-JPTAsian 170IG0.058823530.329411770.611764730.654721000.223529410.77647060
HapMap-YRISub-Saharan African 224IG0.839285730.16071428 0.751830000.919642870.08035714
HAPMAP-ASW 98IG0.734693880.244897960.020408161.000000000.857142870.14285715
HAPMAP-CHBAsian 82IG0.048780490.365853670.585365831.000000000.231707320.76829267
HAPMAP-CHD 168IG0.083333340.333333340.583333310.317310000.250000000.75000000
HAPMAP-GIH 176IG0.136363640.386363630.477272720.250592000.329545470.67045456
HAPMAP-LWK 180IG0.877777760.12222222 1.000000000.938888910.06111111
HAPMAP-MEX 100IG0.200000000.560000000.239999990.402784000.479999990.51999998
HAPMAP-MKK 286IG0.734265740.251748260.013986010.583882000.860139850.13986014
HAPMAP-TSI 174IG0.264367820.551724140.183908050.317310000.540229860.45977011
ENSEMBL_Watson 2IG1.00000000 1.00000000
ss491660645CSAgilent 1319GF0.375999990.488000040.136000010.371093000.620000000.38000003
ss97286308J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.485+/-0.0860000ALFRED: 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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