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Reference SNP (refSNP) Cluster Report: rs1015443                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4147/50103 (ExAC)
T=0.4796/2402 (1000 Genomes)
C=0.4592/5972 (GO-ESP)
C=0.4797/60237 (TOPMED)
HGVS Names
  • CM000674.2:g.10908523T>A
  • CM000674.2:g.10908523T>C
  • NC_000012.11:g.11061122T>C
  • NC_000012.12:g.10908523T>A
  • NC_000012.12:g.10908523T>C
  • NM_001291314.1:c.-58-24248A>G
  • NM_001291314.1:c.-58-24248A>T
  • NM_001291315.1:c.104-25427A>G
  • NM_001291315.1:c.104-25427A>T
  • NM_023920.2:c.776A>G
  • NM_023920.2:c.776A>T
  • NP_076409.1:p.Asn259Ile
  • NP_076409.1:p.Asn259Ser
  • NR_037918.2:n.545-24248A>G
  • NR_037918.2:n.545-24248A>T
  • NT_187658.1:g.107229T>A
  • NT_187658.1:g.107229T>C
  • NW_003571047.1:g.107229T>C
  • NW_003571050.1:g.107229T>A
  • NW_003571050.1:g.107229T>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 ss1478988 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1015443 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
ss1478988TSC-CSHL|TSC0097532byFreqfwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga09/07/0004/07/0486Genomic95 %
ss3204600YUSUKE|IMS-JST024684byFreqfwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga09/05/0110/10/03100Genomicunknown
ss6005746SC_JCM|NT_035207.1_1512822fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga01/10/0310/10/03111Genomicunknown
ss16292660SC_SNP|NT_009714.16_3820096fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga11/18/0311/22/03120Genomicunknown
ss20924664SSAHASNP|WGSA-200403-chr12.chr12.NT_009714.16_3820096fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga03/19/0403/19/04121Genomicunknown
ss24701381PERLEGEN|afd0897777byFreqfwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga08/10/0409/13/04123Genomicunknown
ss38991404ABI|hCV8715013byFreqfwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga07/16/0511/02/06126Genomicunknown
ss65724548ILLUMINA|Human1-rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga10/10/0610/10/06127Genomicunknown
ss66631937ILLUMINA|HumanHap300v1.1_rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga11/09/0611/09/06127Genomicunknown
ss66873076ILLUMINA|HumanHap550v1.1_rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga11/14/0611/14/06127Genomicunknown
ss66953199ILLUMINA|HumanHap650Yv1.0_rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga11/14/0611/14/06127Genomicunknown
ss69100738PERLEGEN|PGP00897777byFreqfwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga01/30/0708/14/07127Genomicunknown
ss70360510ILLUMINA|HumanHap300v2.0_rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga04/18/0711/17/07127Genomicunknown
ss70468588ILLUMINA|HumanHap550v3.0__rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga04/20/0703/29/08130Genomicunknown
ss70990097ILLUMINA|HumanHap650Yv3.0_rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga04/23/0704/23/07127Genomicunknown
ss74810295AFFY|SNP_M-183942fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga08/09/0708/09/07128Genomicunknown
ss75529711ILLUMINA|ILMN_Human_1M_rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga08/28/0708/29/07129Genomicunknown
ss77507285HGSV|Cor12156_SNV_20070510.chr12_10952389fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga10/09/0710/13/07129Genomicunknown
ss80730601KRIBB_YJKIM|KHS1002742byFreqfwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga11/26/0709/05/14130Genomicunknown
ss83334926HGSV|Cor18956_SNV_20070510.chr12_10952389fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga11/30/0712/04/07130Genomicunknown
ss83658916KRIBB_YJKIM|KHS512641fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga12/04/0712/05/07130Genomicunknown
ss86272163CORNELL|hCV8715013byFreqfwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga01/21/0809/05/14129Genomicunknown
ss97206251HUMANGENOME_JCVI|1103649366958fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga03/28/0803/28/08130Genomicunknown
ss106787003BGI|BGI_rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga09/16/0810/21/09130Genomicunknown
ss1114814001000GENOMES|CEU.trio.12.15.2008_2676843_chr12_10952389fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga12/17/0812/17/08130Genomicunknown
ss1131670751000GENOMES|NA19240_2008_12_16_2412162_chr12_10952389fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga12/18/0812/18/08130Genomicunknown
ss121274896ILLUMINA|HumanCNV370v1_C_rs1015443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga04/14/0904/14/09131Genomicunknown
ss137577853ENSEMBL|ENSSNP666443fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga12/08/0810/15/09131Genomicunknown
ss152587021ILLUMINA|Human610_Quadv1_B_rs1015443-128_B_F_1501593860fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga06/18/0906/19/09131Genomicunknown
ss157109307GMI|GMI_SNP_30642637fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga06/24/0906/25/09131Genomicunknown
ss159112598ILLUMINA|Human660W-Quad_v1_A_rs1015443-128_B_F_1501593860fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga07/06/0907/06/09131Genomicunknown
ss159725702SEATTLESEQ|TAS2R13-10952389fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga07/10/0907/10/09131Genomicunknown
ss159870880ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1015443-128_B_F_1501593860fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga08/04/0910/01/09131Genomicunknown
ss167785819COMPLETE_GENOMICS|NA07022_36_chr12_10952389fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga09/30/0909/30/09132Genomicunknown
ss169062865COMPLETE_GENOMICS|NA19240_36_chr12_10952389fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga10/01/0910/01/09132Genomicunknown
ss169290291ILLUMINA|HumanCNV370-Quadv3_C_rs1015443-128_B_F_1501593860fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga10/01/0910/02/09132Genomicunknown
ss169765080ILLUMINA|Human1M-Duov3_B_rs1015443-128_B_F_1501593860fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga10/01/0910/01/09132Genomicunknown
ss170399661COMPLETE_GENOMICS|NA20431_36_chr12_10952389fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga10/01/0910/05/09132Genomicunknown
ss203545992BUSHMAN|BUSHMAN-chr12-10952388byFreqfwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga02/16/1009/05/14132Genomicunknown
ss208002022BCM-HGSC-SUB|BCM_CMT_1011-2291394fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga03/15/1003/19/10132Genomicunknown
ss2256049091000GENOMES|pilot_1_YRI_7414592_chr12_10952389fwd/C/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga04/22/1004/22/10132Genomicunknown
ss2358219461000GENOMES|pilot_1_CEU_5426575_chr12_10952389fwd/C/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga05/01/1005/01/10132Genomicunknown
ss2424012071000GENOMES|pilot_1_CHB+JPT_4286284_chr12_10952389fwd/C/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga05/01/1005/01/10132Genomicunknown
ss281273796GMI|GMI_AK_SNP_5594185fwd/C/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga12/16/1012/16/10137Genomicunknown
ss286505702GMI|GMI_NA10851_SNP_2518493fwd/C/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga12/17/1012/17/10138Genomicunknown
ss291379597PJP|SNP_885955_chr12_10952389fwd/C/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga01/21/1101/21/11134Genomicunknown
ss342349905NHLBI-ESP|ESP2500-chr12-11061122byFreqfwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga03/25/1109/05/14134Genomicunknown
ss479206065ILLUMINA|HumanOmni2.5-4v1_B_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga01/30/1210/28/16137Genomicunknown
ss479208606ILLUMINA|HumanOmniExpress-12v1_C_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga01/30/1210/27/16137Genomicunknown
ss479549740ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga01/30/1208/28/15146Genomicunknown
ss484403997ILLUMINA|HumanOmni2.5-4v1_D_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga01/30/1210/27/16137Genomicunknown
ss4910370521000GENOMES|20110521_exome_544850_chr12_11061122fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga02/10/1202/22/12137Genomicunknown
ss491464319EXOME_CHIP|nonsyn_180545_chr_12_11061122fwd/BC/Tatcgtctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatgatatga03/05/1203/05/12137Genomicunknown
ss491660608CLINSEQ_SNP|SNV-chr12-10952389byFreqfwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga03/06/1209/05/14137Genomicunknown
ss536583101ILLUMINA|HumanOmni5-4v1_B_rs1015443-128_B_F_1908649661fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga06/22/1208/29/15146Genomicunknown
ss562991689TISHKOFF|snp_chr12_11061122fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga11/22/1211/23/12138Genomicunknown
ss658523262SSMP|12_11061122fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga12/14/1202/13/15138Genomicunknown
ss778349357ILLUMINA|HumanOmni25Exome-8v1_A_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/30/1307/10/15142Genomicunknown
ss780908120ILLUMINA|HumanOmni25Exome-8v1_A_exm984113-0_B_F_1922513859fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/30/1307/10/15142Genomicunknown
ss782648404ILLUMINA|HumanOmni2.5-4v1_H_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/30/1307/29/15142Genomicunknown
ss783595570ILLUMINA|HumanOmniExpressExome-8v1_A_exm984113-0_B_F_1922513859fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/31/1306/18/15142Genomicunknown
ss783617678ILLUMINA|HumanOmniExpressExome-8v1_A_rs1015443-128_B_F_1908649661fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/31/1306/18/15142Genomicunknown
ss825330241ILLUMINA|HumanCNV370v1_C_rs1015443-126_B_F_IFB1153931254:0fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga06/24/1311/21/14144Genomicunknown
ss831898704ILLUMINA|HumanOmniExpress-12v1_H_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga09/17/1306/18/15144Genomicunknown
ss832625346ILLUMINA|Human660W-Quad_v1_C_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga09/18/1307/02/15142Genomicunknown
ss833216035ILLUMINA|Human660W-Quad_v1_H_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga09/18/1307/02/15142Genomicunknown
ss833804037ILLUMINA|HumanOmni2.5-8v1_A_rs1015443-128_B_F_1735632508fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga09/18/1307/29/15142Genomicunknown
ss974482663JMKIDD_LAB|KhoeSan_Exomes_chr12_11061122fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga03/06/1403/06/14142Genomicunknown
ss989236558EVA-GONL|EVA-GONL_rs1015443fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga04/23/1404/25/14142Genomicunknown
ss1067531694JMKIDD_LAB|HGDP_exomes_chr12_11061122fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga07/09/1407/09/14142Genomicunknown
ss1078245574JMKIDD_LAB|HGDP_WGS_chr12_11061122fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga07/10/1407/12/14142Genomicunknown
ss13439073131000GENOMES|PHASE3_V1_56822879fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga08/16/1408/16/14142Genomicunknown
ss1397625630HAMMER_LAB|HAMMER_LAB_rs1015443fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga09/30/1407/15/15146Genomicunknown
ss1426843299DDI|DDI_rs1015443fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga11/04/1411/04/14144Genomicunknown
ss1576112570EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1015443fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga02/19/1502/19/15144Genomicunknown
ss1584080347EVA_FINRISK|EVA_FINRISK_rs1015443fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga02/27/1502/27/15144Genomicunknown
ss1598905835EVA_DECODE|EVA_DECODE_12_10952389_85256_rs1015443fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga03/02/1503/04/15144Genomicunknown
ss1628009921EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11061122_31434364fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga03/04/1503/04/15144Genomicunknown
ss1671003954EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11061122_31434364fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga03/04/1503/04/15144Genomicunknown
ss1690794462EVA_EXAC|EVA_EXAC_6011593fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga03/04/1503/04/15144Genomicunknown
ss1711321189EVA_MGP|EVA_XIMO_436949fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga03/09/1503/09/15144Genomicunknown
ss1713306787EVA_SVP|EVA_SVP_1001154fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga03/12/1503/12/15144Genomicunknown
ss1752046147ILLUMINA|OmniExpressExome-8v1-1_B_exm984113-0_B_F_1922513859fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/27/1506/09/15146Genomicunknown
ss1752046148ILLUMINA|OmniExpressExome-8v1-1_B_rs1015443-128_B_F_1908649661fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/27/1506/09/15146Genomicunknown
ss1917870858ILLUMINA|HumanExome-12v1-1_B_exm984113-0_B_F_1922513859fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga10/16/1510/16/15147Genomicunknown
ss1932602125WEILL_CORNELL_DGM|SNV:chr12:11061122fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga10/16/1510/17/15147Genomicunknown
ss1946331593ILLUMINA|HumanCoreExome-12v1-0_C_exm984113-0_B_F_1922513859fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga10/29/1510/29/15147Genomicunknown
ss1959413289ILLUMINA|exm984113-0_B_F_1922513859fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga11/13/1511/13/15147Genomicunknown
ss1967522238GENOMED|rs1015443fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga02/16/1602/16/16147Genomicunknown
ss2027045476JJLAB|SNP7548031fwd/BC/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga08/29/1608/30/16149Genomicunknown
ss2155368351USC_VALOUEV|NC_000012.11:g.11061122T>Cfwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga11/17/1611/17/16150Genomicunknown
ss2187765322HUMAN_LONGEVITY|HLI-12-10908523-T-Cfwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga11/18/1611/18/16150Genomicunknown
ss2351402509TOPMED|12_11061122_T/Cfwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga11/19/1611/19/16150Genomicunknown
ss2628001511SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4795457fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga01/06/1701/06/17151Genomicunknown
ss2632924773ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1015443-128_B_F_19086496fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga02/02/1702/02/17151Genomicunknown
ss2699693398GRF|rs1015443fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga02/13/1702/13/17151Genomicunknown
ss2739638183GNOMAD|exomes_rs1015443fwd/A/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/17/1705/17/17151Genomicunknown
ss2748814935GNOMAD|coding_rs1015443fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/17/1705/17/17151Genomicunknown
ss2907324538GNOMAD|rs1015443fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/22/1705/22/17151Genomicunknown
ss2984967965AFFY|Axiom_PsorMich_Affx-6866613fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/24/1705/24/17151Genomicunknown
ss2985610389AFFY|Axiom_Smokesc1_Affx-6866613fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/24/1705/24/17151Genomicunknown
ss3009202810SWEGEN|NC_000012.11:g.11061122T>Cfwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga05/30/1705/30/17151Genomicunknown
ss3021405991ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm984113-0_B_F_1922513859fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga06/28/1706/28/17151Genomicunknown
ss3023067414EVA_SAMSUNG_MC|EXOMES.12:g11061122t>cfwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga07/03/1707/03/17151Genomicunknown
ss3027327325BIOINF_KMB_FNS_UNIBA|12.10908523T>Cfwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga07/05/1707/05/17151Genomicunknown
ss3162914662TOPMED|TOPMed_freeze_5?chr12:10,908,523fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga09/30/1709/30/17151Genomicunknown
ss3349922683CSHL|rs1015443fwd/C/Tctcacaaagcatgtagatcactgtgtctgatacagctcagaaatccatga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1015443|allelePos=946|totalLen=1268|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 AAAATTCTAG AAATCAAAAA CTCTCTTATT GTTACCAAAA GCAGATAAGT AGTTGCTTGG
 GAAAAAGGGC TGGAGGGGAG AGGGTAAACT GCAAAGGGCA CTGACATTgt ggtcacacaa
 gtgtatacat tgtcaaaact ctaactgaaa tgtggactaa catgttgcat tttattatat
 gtaaattata cctcaatAAT ATTTACTTTA AAAGGCATAA TGTAAAATAT GTATGTACAC
 ATACATACAA TATAATTACT AAAAAACCGT TATCTTTTTA TGTGGCAGTT ACTCATATTA
 AACTTTTTAA CCCTCTCAAT TCTCTCAACA CATCAGTATA GTAATAGTGG CAAGTCCAAA
 CTTCCCTAAT TCTATTCCAA ATAACTGTTC TAATTATCTG TAGCTCACCA TTTAAATAGG
 AGTACTTGAG ATAATAAAAT AATTACCTAA ATCACCCATC TCAATGAATG ATTTAGAATT
 GAAGAGCCAT TGCCAAACAA AAGATTGTAG ATTTACAACT AACATCTAAG TATGCTGTAG
 TATATGTTTT TAATTTACAA TAGAATCTGC CAATAATTTC CTCAAATAAG TTTCAAATTC
 CTAATAATGT AGAAATACAT GTCATAAATA CATAATATTC TTAGGTAAGA TGCTATTATA
 GAGAAGAATT TAAAACATTT ACAGTGACCT TCACAATAAA AGAAACCAGG GGAAGCATAA
 AATATCTTTT AAACTCCTTG TAGACTCCTG TTTCTGTCTG CAATATTCAA TAATCTGTGG
 TCTGAATGGC TTATGAAATT GTGAGTTTCT CATCGTTTAG CCCATACCTT AGCTGCCACC
 AAAAGAAAGG CCTGTCTTAA CTTAGCGTTT CCTAGAATCA GAAGAAAGGA GTGGCTTGAA
 GGAGAGAAGA CTCCAATCGT CTCACAAAGC ATGTAGATCA CTGTG
 H
 TCTGATACAG CTCAGAAATC CATGATATGA GAACACATAG AAAGAAACTA GCATAGAATA
 AAAGGAATGA GATCACAATT TTCAAGGCAT TTGTATGGAC CTTGGTCCTG GGGTCTCTGT
 GTCCTTTGTA ATTGAGTTGC ATTTTCTGGA GATGTTTCTG CAGGGAGAAA ATTAACAGGA
 GAAAAGAGAT GAAGGCCACA GTAAATGGTG TTAGACTGAA CATAGTCATA GTGAATTTGA
 CCGACACTGA AAATGTTTCA AAGTCACTCA TACTGAAATT CCAAGTTGTG TTTCTTTCAT
 ATCGGTCCAG CCAGTCTTTT AT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_035207.1 ABBA01067808
dbSNP Blast Analysis
UniGene Cluster ID
533757

  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
ss1343907313EAS 1008AF 0.724200010.27580002
EUR 1006AF 0.624300000.37570000
AFR 1322AF 0.152800010.84720004
AMR 694AF 0.590799990.40920001
SAS 978AF 0.650300030.34970000
ss137577853ENSEMBL_Venter 2IG1.00000000 1.00000000
ss1478988SC_12_AAsian 24IG0.416666660.58333331 0.317310000.708333310.29166666
SC_12_AAAfrican American 24IG0.083333340.416666660.500000001.000000000.291666660.70833331
SC_12_CEuropean 8IG0.500000000.50000000 0.750000000.25000000
SC_95_CEuropean 78IG0.538461570.307692320.153846160.099721000.692307710.30769232
CEPH 184AF 0.680000010.31999999
HapMap-CEUEuropean 226IG0.345132740.486725660.168141591.000000000.588495550.41150442
HapMap-HCBAsian 86IG0.418604640.488372090.093023260.583882000.662790720.33720931
HapMap-JPTAsian 172IG0.581395330.348837200.069767450.654721000.755813960.24418604
HapMap-YRISub-Saharan African 226IG0.026548670.300884960.672566350.751830000.176991150.82300884
EURAME 32GF0.125000000.500000000.375000001.000000000.375000000.62500000
AFRAME 32GF0.687500000.31250000 0.479500000.843750000.15625000
HAPMAP-ASW 98IG0.061224490.408163280.530612230.751830000.265306120.73469388
HAPMAP-CHBAsian 82IG0.512195110.414634140.073170731.000000000.719512220.28048781
HAPMAP-CHD 170IG0.529411790.376470600.094117650.527089000.717647080.28235295
HAPMAP-GIH 176IG0.431818190.488636370.079545450.294266000.676136370.32386363
HAPMAP-LWK 180IG 0.200000000.800000010.654721000.100000000.89999998
HAPMAP-MEX 100IG0.440000000.419999990.140000000.654721000.649999980.34999999
HAPMAP-MKK 286IG0.076923080.384615390.538461571.000000000.269230780.73076922
HAPMAP-TSI 176IG0.363636370.465909090.170454551.000000000.596590940.40340909
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss167785819CEUEuropean 2IG1.00000000 1.00000000
ss169062865YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss1690794462ExAc_Aggregated_Populations121376AF 0.584143460.41585651
ss170399661PGP 2IG1.00000000 1.00000000
ss203545992BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss225604909pilot_1_YRI_low_coverage_panel 118AF 0.144067790.85593218
ss235821946pilot_1_CEU_low_coverage_panel 120AF 0.574999990.42500001
ss242401207pilot_1_CHB+JPT_low_coverage_panel 120AF 0.716666640.28333333
ss24701381AFD_EUR_PANELEuropean 44IG0.363636370.590909060.045454550.150222000.659090940.34090909
AFD_AFR_PANELAfrican American 46IG0.086956520.260869560.652173940.273322000.217391300.78260869
AFD_CHN_PANELAsian 48IG0.458333340.458333340.083333340.751830000.687500000.31250000
ss3204600JBIC-allele 1474AF 0.741499960.25849998
ss342349905ESP_Cohort_Populations 4546GF0.225252970.421029480.353717570.001000000.435767710.56423229
ss38991404AoD_African_American 90AF 0.200000000.80000001
AoD_Caucasian 92AF 0.589999970.41000003
AoD_Chinese 90AF 0.769999920.23000000
AoD_Japanese 90AF 0.779999970.22000000
ss491660608CSAgilent 1306GF0.330669340.514485480.154845160.150222000.587912080.41208792
ss69100738HapMap-CEUEuropean 120IG0.383333330.416666660.200000000.294266000.591666640.40833333
HapMap-HCBAsian 90IG0.444444450.466666670.088888890.654721000.677777770.32222223
HapMap-JPTAsian 90IG0.622222240.355555560.022222220.479500000.800000010.20000000
HapMap-YRISub-Saharan African 120IG0.033333340.283333330.683333341.000000000.175000000.82499999
ss80730601KHP1 178AF0.629213510.325842710.044943821.000000000.792134820.20786516
KHP_Korean 178IG0.629213510.325842710.044943821.000000000.792134820.20786516
ss86272163AGI_ASP_populationmultiple 66IG0.181818190.393939410.424242440.371093000.378787880.62121212
ss97206251J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.485+/-0.0840000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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