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Reference SNP (refSNP) Cluster Report: rs597468                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0214/2586 (ExAC)
G=0.0571/286 (1000 Genomes)
G=0.0602/782 (GO-ESP)
G=0.0544/6829 (TOPMED)
HGVS Names
  • CM000674.2:g.10825803G>A
  • NC_000012.11:g.10978402G>A
  • NC_000012.12:g.10825803G>A
  • NM_023921.1:c.467C>T
  • NP_076410.1:p.Thr156Met
  • NT_187658.1:g.24509G>A
  • NW_003571047.1:g.24509G>A
  • NW_003571050.1:g.24509G>A
  • XR_001749437.1:n.6441-610C>T
  • XR_001756515.1:n.6441-610C>T
  • XR_001756579.1:n.6441-610C>T
Links
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 ss281273563 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs597468 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
ss769354SC_JCM|AC006518.1_24714fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt07/27/0010/10/0383Genomicunknown
ss2488475SC_JCM|AC016145.10_147401fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt11/03/0010/10/0392Genomicunknown
ss12189290WI_SSAHASNP|chr12.NT_009714.15_3737376fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt07/04/0310/10/03116Genomicunknown
ss15919784SC_SNP|NT_009714.16_3737376fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt11/17/0311/22/03120Genomicunknown
ss16598811CSHL-HAPMAP|CSHL-HuAA-200402.chr12.NT_009714.16_3737376fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt02/17/0403/04/04120Genomicunknown
ss20938764SSAHASNP|WGSA-200403-chr12.chr12.NT_009714.16_3737376fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt03/19/0403/19/04121Genomicunknown
ss23788048PERLEGEN|afd4316229byFreqfwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt08/10/0409/13/04123Genomicunknown
ss38949704ABI|hCV2305470byFreqfwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt07/16/0511/02/06126Genomicunknown
ss66463480AFFY|SNP_A-2249767byFreqrev/BC/Tcttaatgattataaaagaagaatgacacagtc10/29/0608/14/07127Genomicunknown
ss69100731PERLEGEN|PGP04316229byFreqfwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt01/30/0708/14/07127Genomicunknown
ss74893378ILLUMINA|ILMN_Human_1M_rs597468fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt08/28/0708/29/07129Genomicunknown
ss76264689AFFY|AFFY_6_1M_SNP_A-2249767rev/BC/Tcttaatgattataaaagaagaatgacacagtc08/28/0708/30/07130Genomicunknown
ss78917984HGSV|Cor18507_SNV_20070510.chr12_10869669fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt10/19/0710/21/07129Genomicunknown
ss81428543KRIBB_YJKIM|KHS54728fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt11/30/0711/30/07130Genomicunknown
ss86241890CORNELL|hCV2305470byFreqfwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt01/21/0809/05/14129Genomicunknown
ss88966361BCMHGSC_JDW|JWB-0518730fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt02/26/0802/28/08129Genomicunknown
ss97206113HUMANGENOME_JCVI|1103649366778fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt03/28/0803/28/08130Genomicunknown
ss106786866BGI|BGI_rs597468fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt09/16/0810/21/09130Genomicunknown
ss1114801801000GENOMES|CEU.trio.12.15.2008_2676685_chr12_10869669fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt12/17/0812/17/08130Genomicunknown
ss1131660371000GENOMES|NA19240_2008_12_16_2412032_chr12_10869669fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt12/18/0812/18/08130Genomicunknown
ss118571523ILLUMINA-UK|NA18507_000015432_NCBI36.1_chr12_10869669fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt01/21/0901/21/09130Genomic99 %
ss132998068ENSEMBL|ENSSNP10551916fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt05/11/0905/14/09131Genomicunknown
ss137578478ENSEMBL|ENSSNP666010fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt12/08/0810/15/09131Genomicunknown
ss157108201GMI|GMI_SNP_31018340fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt06/24/0906/25/09131Genomicunknown
ss159725699SEATTLESEQ|TAS2R10-10869669fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt07/10/0907/10/09131Genomicunknown
ss161044162ILLUMINA|HumanOmni1-Quad_v1-0_B_SNP12-10869669-0_T_F_1588138866fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt08/04/0910/05/09131Genomicunknown
ss167784202COMPLETE_GENOMICS|NA07022_36_chr12_10869669fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt09/30/0909/30/09132Genomicunknown
ss169060593COMPLETE_GENOMICS|NA19240_36_chr12_10869669fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt10/01/0910/01/09132Genomicunknown
ss170397792COMPLETE_GENOMICS|NA20431_36_chr12_10869669fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt10/01/0910/05/09132Genomicunknown
ss173030891AFFY|GenomeWideSNP_5_SNP_A-2249767rev/BC/Tcttaatgattataaaagaagaatgacacagtc10/01/0910/02/09132Genomicunknown
ss173953623ILLUMINA|Human1M-Duov3_B_rs597468-128_T_F_1513906554fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt10/01/0910/04/09132Genomicunknown
ss203545287BUSHMAN|BUSHMAN-chr12-10869668fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt02/16/1003/09/10132Genomicunknown
ss208057560BCM-HGSC-SUB|BCM_CMT_1011-2309418fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt03/15/1003/19/10132Genomicunknown
ss2256046251000GENOMES|pilot_1_YRI_7414308_chr12_10869669fwd/A/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt04/22/1004/22/10132Genomicunknown
ss2358217041000GENOMES|pilot_1_CEU_5426333_chr12_10869669fwd/A/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt05/01/1005/01/10132Genomicunknown
ss2424010201000GENOMES|pilot_1_CHB+JPT_4286097_chr12_10869669fwd/A/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt05/01/1005/01/10132Genomicunknown
ss254878756BL|SNP15080_12_10869669fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt08/19/1008/19/10134Genomicunknown
ss281273563GMI|GMI_AK_SNP_5593952fwd/A/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt12/16/1012/16/10137Genomicunknown
ss286505547GMI|GMI_NA10851_SNP_2518338fwd/A/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt12/17/1012/17/10138Genomicunknown
ss291379457PJP|SNP_885815_chr12_10869669fwd/A/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt01/21/1101/21/11134Genomicunknown
ss342349898NHLBI-ESP|ESP2500-chr12-10978402byFreqfwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt03/25/1109/05/14134Genomicunknown
ss479440823ILLUMINA|HumanOmni1-Quad_v1-0_C_kgp7857778-0_T_F_1803009079fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc01/30/1208/28/15146Genomicunknown
ss482971794ILLUMINA|HumanOmni2.5-4v1_B_SNP12-10869669-0_T_F_1619898395fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc01/30/1210/28/16137Genomicunknown
ss483984752ILLUMINA|HumanOmni2.5-4v1_D_kgp7857778-0_T_F_1803009079fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc01/30/1210/27/16137Genomicunknown
ss4910370341000GENOMES|20110521_exome_544832_chr12_10978402fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt02/10/1202/22/12137Genomicunknown
ss491464298EXOME_CHIP|nonsyn_180524_chr_12_10978402fwd/TA/Gatgttgagatcccagactgtgtcattcttcttttataatcattaagaatcttcgcaatgt03/05/1203/05/12137Genomicunknown
ss491660593CLINSEQ_SNP|SNV-chr12-10869669byFreqfwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc03/06/1209/05/14137Genomicunknown
ss536178177ILLUMINA|HumanOmni5-4v1_B_kgp7857778-0_T_F_1803009079fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc06/22/1208/29/15146Genomicunknown
ss562991307TISHKOFF|snp_chr12_10978402fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc11/22/1211/23/12138Genomicunknown
ss658522922SSMP|12_10978402fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc12/14/1202/13/15138Genomicunknown
ss779150686ILLUMINA|HumanOmni25Exome-8v1_A_kgp7857778-0_T_F_1803009079fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/30/1307/10/15146Genomicunknown
ss780908109ILLUMINA|HumanOmni25Exome-8v1_A_exm984033-0_T_F_1922493503fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/30/1307/10/15146Genomicunknown
ss782436581ILLUMINA|HumanOmni2.5-4v1_H_kgp7857778-0_T_F_1803009079fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/30/1307/29/15146Genomicunknown
ss783595559ILLUMINA|HumanOmniExpressExome-8v1_A_exm984033-0_T_F_1922493503fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/31/1306/18/15146Genomicunknown
ss834615541ILLUMINA|HumanOmni2.5-8v1_A_kgp7857778-0_T_F_1803009079fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc09/18/1307/29/15146Genomicunknown
ss974482659JMKIDD_LAB|KhoeSan_Exomes_chr12_10978402fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc03/06/1403/06/14142Genomicunknown
ss989235982EVA-GONL|EVA-GONL_rs597468fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc04/23/1404/25/14142Genomicunknown
ss1067531686JMKIDD_LAB|HGDP_exomes_chr12_10978402fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc07/09/1407/09/14142Genomicunknown
ss1078245136JMKIDD_LAB|HGDP_WGS_chr12_10978402fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc07/10/1407/12/14142Genomicunknown
ss13439050841000GENOMES|PHASE3_V1_56820566fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc08/16/1408/16/14142Genomicunknown
ss1426843121DDI|DDI_rs597468fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc11/04/1411/04/14144Genomicunknown
ss1576112092EVA_GENOME_DK|EVA_GENOME_DK_snv_rs597468fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc02/19/1502/19/15144Genomicunknown
ss1584080339EVA_FINRISK|EVA_FINRISK_rs597468fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc02/27/1502/27/15144Genomicunknown
ss1598905211EVA_DECODE|EVA_DECODE_12_10869669_84632_rs597468fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc03/02/1503/04/15144Genomicunknown
ss1628008735EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_10978402_31433071fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc03/04/1503/04/15144Genomicunknown
ss1671002768EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_10978402_31433071fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc03/04/1503/04/15144Genomicunknown
ss1690794039EVA_EXAC|EVA_EXAC_6011117fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc03/04/1503/04/15144Genomicunknown
ss1711321162EVA_MGP|EVA_XIMO_436922fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc03/09/1503/09/15144Genomicunknown
ss1713306746EVA_SVP|EVA_SVP_1001113fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc03/12/1503/12/15144Genomicunknown
ss1752045801ILLUMINA|OmniExpressExome-8v1-1_B_exm984033-0_T_F_1922493503fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/27/1506/09/15146Genomicunknown
ss1807119272HAMMER_LAB|Hsieh_6140128fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc07/15/1507/16/15146Genomicunknown
ss1917870846ILLUMINA|HumanExome-12v1-1_B_exm984033-0_T_F_1922493503fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc10/16/1510/16/15147Genomicunknown
ss1932601499WEILL_CORNELL_DGM|SNV:chr12:10978402fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc10/16/1510/17/15147Genomicunknown
ss1946331573ILLUMINA|HumanCoreExome-12v1-0_C_exm984033-0_T_F_1922493503fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc10/29/1510/29/15147Genomicunknown
ss1959413252ILLUMINA|exm984033-0_T_F_1922493503fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc11/13/1511/13/15147Genomicunknown
ss1967522056GENOMED|rs597468fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc02/16/1602/16/16147Genomicunknown
ss2027045181JJLAB|SNP7547736fwd/TA/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc08/29/1608/30/16149Genomicunknown
ss2155368058USC_VALOUEV|NC_000012.11:g.10978402G>Afwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc11/17/1611/17/16150Genomicunknown
ss2187760981HUMAN_LONGEVITY|HLI-12-10825803-G-Afwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc11/18/1611/18/16150Genomicunknown
ss2351397552TOPMED|12_10978402_G/Afwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc11/19/1611/19/16150Genomicunknown
ss2628001315SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4795216fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc01/06/1701/06/17151Genomicunknown
ss2632924729ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp7857778-0_T_F_180300907fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc02/02/1702/02/17151Genomicunknown
ss2699693080GRF|rs597468fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc02/13/1702/13/17151Genomicunknown
ss2739637566GNOMAD|exomes_rs597468fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/17/1705/17/17151Genomicunknown
ss2748814753GNOMAD|coding_rs597468fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/17/1705/17/17151Genomicunknown
ss2907318229GNOMAD|rs597468fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/22/1705/22/17151Genomicunknown
ss2984967945AFFY|Axiom_PsorMich_Affx-6857887fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/24/1705/24/17151Genomicunknown
ss3009201925SWEGEN|NC_000012.11:g.10978402G>Afwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc05/30/1705/30/17151Genomicunknown
ss3021405948ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm984033-0_T_F_1922493503fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc06/28/1706/28/17151Genomicunknown
ss3027327146BIOINF_KMB_FNS_UNIBA|12.10825803G>Afwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc07/05/1707/05/17151Genomicunknown
ss3162899890TOPMED|TOPMed_freeze_5?chr12:10,825,803fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc09/30/1709/30/17151Genomicunknown
ss3349922415CSHL|rs597468fwd/A/Ggagatcccagactgtgtcattcttcttttataatcattaagaatcttcgc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs597468|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CACTGGATTC CTTTCGTGGA ACATCCATCT CTTCCCAAGG TGTCTATGTG ACTCTGAGAT
 TTTTCCTTTT CTCACAGCAC TTCAATTGCT GCAGTACCCT CAAAGAGGCT TGCTTTAGCT
 TGCTGTTTCC TAGAATTAAG ATAAATGAGT GACCCCAGGG ATAGATGGCT GTGGTTGTCA
 TTCCAAACAT AAGCAGCAGT TTGTTTTCTC GCACAGTAAA ACATGATATT TCTATGGCCA
 TGCCTATAAA ATACAAGATA AAGAGGATGA TGAAAGATAT CAAAACTTTC ATTGCCTTCA
 CATGAGCTTC TGTGTTGGAG TCTCTCAATC CTGTCACATT CGATTGCATC TGCCTGTTGT
 GTCTCCAAAG GGAAATGATT AAAAAAATAC ATGTAATTAG GGATAGTGTA AAGAAGAAAA
 TGACTCCCAG ATTTAGCAAA ATCTGTTTAA TAAAGTATTC ACTTTTATAC ATGTTGAGAT
 CCCAGACTGT GTCATTCTTC
 R
 TTTTATAATC ATTAAGAATC TTCGCAATGT ATGCAAAATT AAGTAACGAT GAAATAAGTA
 AGAATACTAT CATGAAGGGA AGAACCATAT TTGTTCTGCT CTTCAACCAG AGAAATATGT
 AGTTGGAAAA ATTTGCTATC TTCAGGAAAT AGAAGATGCT GAGGCTGGTG GCAAACCACA
 TACTTGATTG ATTACCAATT ACCCAAAAGT AACTAATATA TTCAATTAGG TTACCGGAGG
 CATATATATT TGGAGAGAAT ATCTGTATAA ATCCATCTGT AATTATTATC CATATCAGAA
 AAATTCTTGA AATAGCTAAG CCGGTGAGAA TAAAGCCAAT CGTAGATAAC TTATTCTTGG
 CACAGTCAAT GCAGTTTACA AGTCCAATAA ATCCATTCCC CAAAACCCCA AACACTGACT
 CACTAACTAC AACAAAAATG AAGATGCCTT CCACTACACG TAGCATATCT GCTAATTCTT
 AATATTGCTT CTGTTACATC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 ABBA01067807 AC006518 AC016145
dbSNP Blast Analysis
UniGene Cluster ID
533756

  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.
SourceA/A
A/G
G/G
HWPA
G
ss118571523YRI 2IG1.00000000 1.00000000
ss132998068ENSEMBL_Watson 2IG1.00000000 1.00000000
ss1343905084EAS 1008AF 1.00000000
EUR 1006AF 0.996999980.00300000
AFR 1322AF 0.810099960.18990001
AMR 694AF 0.984099980.01590000
SAS 978AF 0.978500010.02150000
ss137578478ENSEMBL_Venter 2IG1.00000000 1.00000000
ENSEMBL_celera 2IG1.00000000 1.00000000
ss167784202CEUEuropean 2IG1.00000000 1.00000000
ss169060593YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss1690794039ExAc_Aggregated_Populations121354AF 0.978451490.02154853
ss170397792PGP 2IG1.00000000 1.00000000
ss203545287BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss225604625pilot_1_YRI_low_coverage_panel 118AF 0.822033880.17796610
ss235821704pilot_1_CEU_low_coverage_panel 120AF 1.00000000
ss23788048AFD_EUR_PANELEuropean 48IG1.00000000 1.00000000
AFD_AFR_PANELAfrican American 46IG0.739130440.26086956 0.751830000.869565190.13043478
AFD_CHN_PANELAsian 48IG1.00000000 1.00000000
ss242401020pilot_1_CHB+JPT_low_coverage_panel 120AF 1.00000000
ss342349898ESP_Cohort_Populations 3996GF0.864864890.124124120.011011010.001000000.926926910.07307307
ss38949704HapMap-CEUEuropean 120IG1.00000000 1.00000000
HapMap-HCBAsian 90IG1.00000000 1.00000000
HapMap-JPTAsian 88IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 224IG0.723214270.232142850.044642860.150222000.839285730.16071428
HAPMAP-ASW 96IG0.708333310.270833340.020833331.000000000.843750000.15625000
HAPMAP-GIH 176IG0.954545440.04545455 1.000000000.977272750.02272727
HAPMAP-LWK 180IG0.600000020.40000001 0.200325000.800000010.20000000
HAPMAP-MEX 100IG0.959999980.04000000 1.000000000.980000020.02000000
HAPMAP-MKK 286IG0.748251740.230769230.020979021.000000000.863636370.13636364
ss491660593CSAgilent 1113GF0.991000000.00900000 1.000000000.995500030.00450000
ss66463480HapMap-CEUEuropean 118IG1.00000000 1.00000000
HapMap-HCBAsian 90IG1.00000000 1.00000000
HapMap-JPTAsian 90IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG0.699999990.283333330.016666670.654721000.841666640.15833333
ss69100731HapMap-CEUEuropean 120IG1.00000000 1.00000000
HapMap-HCBAsian 90IG1.00000000 1.00000000
HapMap-JPTAsian 90IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG0.699999990.266666680.033333341.000000000.833333310.16666667
ss76264689ICMHP 8IG1.00000000 1.00000000
ss769354CEPH 184AF 1.00000000
ss86241890AGI_ASP_populationmultiple 78IG0.871794880.12820514 1.000000000.935897410.06410257
ss97206113J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.042+/-0.1390000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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