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Reference SNP (refSNP) Cluster Report: rs1143634                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.1964/23848 (ExAC)
A=0.1328/665 (1000 Genomes)
A=0.2042/2656 (GO-ESP)
A=0.1820/22858 (TOPMED)
HGVS Names
  • CM000664.2:g.112832813G>A
  • NC_000002.11:g.113590390G>A
  • NC_000002.12:g.112832813G>A
  • NG_008851.1:g.8967C>T
  • NM_000576.2:c.315C>T
  • NP_000567.1:p.Phe105=
  • XP_016859477.1:p.Phe74=
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 ss284412481 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1143634 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
ss1556760UUGC|IL1B_snp12byFreqfwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac09/13/0004/07/0486Genomicunknown
ss3182224HGBASE|SNP000063407fwd/BC/Ttccacatttcagaacctatcttcttgacacatgggataacgaggcttatg07/09/0110/10/0398Genomicunknown
ss4916298WIPGA|WI-44339fwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac07/12/0210/10/03108cDNAunknown
ss5111337PGA-UW-FHCRC|IL1B-005277byFreqfwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac09/05/0204/07/04108Genomicunknown
ss5586652SNP500CANCER|IL1B-02byFreqfwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac09/26/0204/07/04113Genomicunknown
ss16229749CGAP-GAI|1467600fwd/BC/Tcttcatctttgaagaagaacctatcttcttgacacatgggataacgaggcttatgtgcac11/18/0311/22/03126cDNAunknown
ss24276021PERLEGEN|afd1298223byFreqrev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca08/10/0409/13/04123Genomicunknown
ss48407299APPLERA_GI|hCV9546517byFreqrev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca09/28/0511/03/06126Genomicunknown
ss52069020SI_EXO|NT_022135.14_2298133byFreqrev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca03/29/0608/14/07127Genomicunknown
ss52087347PGA-UW-FHCRC|IL1B_005277byFreqfwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac04/28/0608/14/07127Genomicunknown
ss66930342ILLUMINA|HumanHap550v1.1_rs1143634fwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac11/14/0611/14/06127Genomicunknown
ss67088160ILLUMINA|HumanHap650Yv1.0_rs1143634fwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac11/14/0611/14/06127Genomicunknown
ss68105802ILLUMINA|HumanHap250Sv1.0_rs1143634fwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac12/06/0612/07/06127Genomicunknown
ss68824637PERLEGEN|PGP01298223byFreqrev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca01/30/0708/14/07127Genomicunknown
ss69367188PHARMGKB_PARC|PS204930_PA135246008_5277byFreqfwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac03/22/0708/14/07127Genomicunknown
ss70528325ILLUMINA|HumanHap550v3.0__rs1143634rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca04/20/0703/30/08130Genomicunknown
ss71058603ILLUMINA|HumanHap650Yv3.0_rs1143634fwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac04/23/0704/23/07127Genomicunknown
ss75606395ILLUMINA|ILMN_Human_1M_rs1143634fwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac08/28/0708/29/07129Genomicunknown
ss76775615AFFY|AFFY_6_1M_SNP_A-8637035rev/TA/Gcgttatcccatgtgtcaagaagataggttctg08/28/0708/30/07129Genomicunknown
ss76878394CGM_KYOTO|1015642rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca09/12/0709/12/07129cDNAunknown
ss83687693KRIBB_YJKIM|KHS519607fwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac12/04/0712/05/07130Genomicunknown
ss104807662DIMIGEN_LGM-FO-UNAM|IL1B-001-VAR300508.1byFreqfwd/BC/Ttgtgctccacatttcagaacctatcttcttgacacatgggataacgaggcttatgtgcac07/09/0803/07/10130GenomicC100 %
ss1097858521000GENOMES|CEU.trio.12.15.2008_445225_chr2_113306861rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca12/16/0812/16/08130Genomicunknown
ss152984113ILLUMINA|Human610_Quadv1_B_rs1143634-128_T_R_1502090929rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca06/18/0906/19/09131Genomicunknown
ss159174519ILLUMINA|Human660W-Quad_v1_A_rs1143634-128_T_R_1502090929rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca07/06/0907/06/09131Genomicunknown
ss159702634SEATTLESEQ|IL1B-113306861rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca07/10/0907/10/09131Genomicunknown
ss159977720ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1143634-128_T_R_1502090929rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca08/04/0910/01/09131Genomicunknown
ss171248960ILLUMINA|Human1M-Duov3_B_rs1143634-128_T_R_1502090929rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca10/01/0910/01/09132Genomicunknown
ss200889941BUSHMAN|BUSHMAN-chr2-113306860byFreqrev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca02/16/1009/05/14132Genomicunknown
ss205675994BCM-HGSC-SUB|BCM_CMT_1011-317010rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca03/15/1003/16/10132Genomicunknown
ss2194387621000GENOMES|pilot_1_YRI_1248445_chr2_113306861rev/A/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca04/22/1004/22/10132Genomicunknown
ss2313105961000GENOMES|pilot_1_CEU_915225_chr2_113306861rev/A/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca05/01/1005/01/10132Genomicunknown
ss2388318581000GENOMES|pilot_1_CHB+JPT_716935_chr2_113306861rev/A/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca05/01/1005/01/10132Genomicunknown
ss244272407ILLUMINA|CVDSNP55v1_A_rs1143634rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca06/10/1006/10/10132Genomicunknown
ss284412481GMI|GMI_NA10851_SNP_425252rev/A/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca12/17/1012/17/10138Genomicunknown
ss342075197NHLBI-ESP|ESP2500-chr2-113590390byFreqrev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca03/25/1109/05/14134Genomicunknown
ss479519354ILLUMINA|HumanOmni2.5-4v1_B_rs1143634-128_T_R_1617356576rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga01/30/1210/28/16137Genomicunknown
ss479523202ILLUMINA|HumanOmniExpress-12v1_C_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga01/30/1210/27/16137Genomicunknown
ss479976666ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga01/30/1208/28/15146Genomicunknown
ss484558814ILLUMINA|HumanOmni2.5-4v1_D_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga01/30/1210/28/16137Genomicunknown
ss4898294161000GENOMES|20110521_exome_348190_chr2_113590390rev/TA/Ggtgcacataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtggagcaca02/10/1202/21/12137Genomicunknown
ss491789900CLINSEQ_SNP|SNV-chr2-113306861byFreqrev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga03/06/1209/05/14137Genomicunknown
ss536694224ILLUMINA|HumanOmni5-4v1_B_rs1143634-131_T_R_1908672602rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga06/22/1208/28/15146Genomicunknown
ss555794634TISHKOFF|snp_chr2_113590390rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga11/22/1211/23/12138Genomicunknown
ss649414449SSMP|2_113590390rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga12/14/1202/10/15138Genomicunknown
ss778758282ILLUMINA|HumanOmni25Exome-8v1_A_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga05/30/1307/09/15142Genomicunknown
ss782726070ILLUMINA|HumanOmni2.5-4v1_H_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga05/30/1307/28/15142Genomicunknown
ss783693456ILLUMINA|HumanOmniExpressExome-8v1_A_rs1143634-131_T_R_1908672602rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga05/31/1306/19/15142Genomicunknown
ss831977736ILLUMINA|HumanOmniExpress-12v1_H_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga09/17/1306/18/15144Genomicunknown
ss832687047ILLUMINA|Human660W-Quad_v1_C_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga09/18/1307/02/15142Genomicunknown
ss833277736ILLUMINA|Human660W-Quad_v1_H_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga09/18/1307/02/15142Genomicunknown
ss834218016ILLUMINA|HumanOmni2.5-8v1_A_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga09/18/1307/28/15142Genomicunknown
ss974443436JMKIDD_LAB|KhoeSan_Exomes_chr2_113590390rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga03/06/1403/06/14142Genomicunknown
ss977224282EVA-GONL|EVA-GONL_rs1143634rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga04/23/1404/23/14142Genomicunknown
ss1067440268JMKIDD_LAB|HGDP_exomes_chr2_113590390rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga07/09/1407/09/14142Genomicunknown
ss1069395033JMKIDD_LAB|HGDP_WGS_chr2_113590390rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga07/10/1407/10/14142Genomicunknown
ss12987955311000GENOMES|PHASE3_V1_9843506rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga08/16/1408/16/14142Genomicunknown
ss1397301759HAMMER_LAB|HAMMER_LAB_rs1143634rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga09/30/1409/30/14146Genomicunknown
ss1428693691DDI|DDI_rs1143634rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga11/04/1411/04/14144Genomicunknown
ss1579032118EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1143634rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga02/19/1502/20/15144Genomicunknown
ss1584020464EVA_FINRISK|EVA_FINRISK_rs1143634rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga02/27/1502/27/15144Genomicunknown
ss1586648223EVA_DECODE|EVA_DECODE_2_113306861_850130_rs1143634rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga03/02/1503/02/15144Genomicunknown
ss1604296558EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_113590390_5402830rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga03/04/1503/04/15144Genomicunknown
ss1647290591EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_113590390_5402830rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga03/04/1503/04/15144Genomicunknown
ss1686475993EVA_EXAC|EVA_EXAC_1356208rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga03/04/1503/04/15144Genomicunknown
ss1710976749EVA_MGP|EVA_XIMO_93366rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga03/09/1503/09/15144Genomicunknown
ss1712481499EVA_SVP|EVA_SVP_176051rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga03/12/1503/12/15144Genomicunknown
ss1752305609ILLUMINA|OmniExpressExome-8v1-1_B_rs1143634-131_T_R_1908672602rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga05/27/1506/09/15146Genomicunknown
ss1797296005HAMMER_LAB|Hsieh_1037572rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga07/15/1507/15/15146Genomicunknown
ss1920470606WEILL_CORNELL_DGM|SNV:chr2:113590390rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga10/16/1510/16/15147Genomicunknown
ss1958449160ILLUMINA|2:113590390-G-A-0_T_F_2304287319rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga11/13/1511/13/15147Genomicunknown
ss1968856247GENOMED|rs1143634rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga02/16/1602/16/16147Genomicunknown
ss2020764430JJLAB|SNP1266985rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga08/29/1608/30/16149Genomicunknown
ss2094806981ILLUMINA|Immuno_BeadChip_11419691_B_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga09/27/1609/27/16150Genomicunknown
ss2095099986ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs1143634-131_T_R_1852854335rev/TA/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga09/27/1609/27/16150Genomicunknown
ss2148820658USC_VALOUEV|NC_000002.11:g.113590390G>Arev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga11/17/1611/17/16150Genomicunknown
ss2233293385HUMAN_LONGEVITY|HLI-2-112832813-G-Arev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga11/18/1611/18/16150Genomicunknown
ss2399525300TOPMED|2_113590390_G/Arev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga11/19/1611/19/16150Genomicunknown
ss2633658473ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1143634-131_T_R_19086726rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga02/02/1702/02/17151Genomicunknown
ss2635093978ILLUMINA|Cancer_BeadChip_11459870_A_rs1143634-128_T_R_1617356576rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga02/02/1702/02/17151Genomicunknown
ss2703430465GRF|rs1143634rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga02/13/1702/13/17151Genomicunknown
ss2732926212GNOMAD|exomes_rs1143634rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga05/17/1705/17/17151Genomicunknown
ss2746760561GNOMAD|coding_rs1143634rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga05/17/1705/17/17151Genomicunknown
ss2778132690GNOMAD|rs1143634rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga05/17/1705/17/17151Genomicunknown
ss2990197784SWEGEN|NC_000002.11:g.113590390G>Arev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga05/30/1705/30/17151Genomicunknown
ss3022005471ILLUMINA|MEGA_Consortium_v2_15070954_A2_2:113590390-G-A-0_T_F_2304287319rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga06/28/1706/28/17151Genomicunknown
ss3024143821BIOINF_KMB_FNS_UNIBA|2.112832813G>Arev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga07/05/1707/05/17151Genomicunknown
ss3319508434TOPMED|TOPMed_freeze_5?chr2:112,832,813rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga10/02/1710/02/17151Genomicunknown
ss3344412083CSHL|rs1143634rev/A/Gcataagcctcgttatcccatgtgtcaagaagataggttctgaaatgtgga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1143634|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CCAGCCAACT CAATTCCCCC AGAGCCAAAG CCCTTTAAAG GTAGAAGGCC CAGCGGGGAG
 ACAAAACAAA GAAGGCTGGA AACCAAAGCA ATCATCTCTT TAGTGGAAAC TATTCTTAAA
 GAAGATCTTG ATGGCTACTG ACATTTGCAA CTCCCTCACT CTTTCTCAGG GGCCTTTCAC
 TTACATTGTC ACCAGAGGTT CGTAACCTCC CTGTGGGCTA GTGTTATGAC CATCACCATT
 TTACCTAAGT AGCTCTGTTG CTCGGCCACA GTGAGCAGTA ATAGACCTGA AGCTGGAACC
 CATGTCTAAT AGTGTCAGGT CCAGTGTTCT TAGCCACCCC ACTCCCAGCT TCATCCCTAC
 TGGTGTTGTC ATCAGACTTT GACCGTATAT GCTCAGGTGT CCTCCAAGAA ATCAAATTTT
 GCCGCCTCGC CTCACGAGGC CTGCCCTTCT GATTTTATAC CTAAACAACA TGTGCTCCAC
 ATTTCAGAAC CTATCTTCTT
 Y
 GACACATGGG ATAACGAGGC TTATGTGCAC GATGCACCTG TACGATCACT GAACTGCACG
 CTCCGGGACT CACAGCAAAA AAGCTTGGTG ATGTCTGGTC CATATGAACT GAAAGCTCTC
 CACCTCCAGG GACAGGATAT GGAGCAACAA GGTAAATGGA AACATCCTGG TTTCCCTGCC
 TGGCCTCCTG GCAGCTTGCT AATTCTCCAT GTTTTAAACA AAGTAGAAAG TTAATTTAAG
 GCAAATGATC AACACAAGTG AAAAAAAATA TTAAAAAGGA ATATACAAAC TTTGGTCCTA
 GAAATGGCAC ATTTGATTGC ACTGGCCAGT GCATTTGTTA ACAGGAGTGT GACCCTGAGA
 AATTAGACGG CTCAAGCACT CCCAGGACCA TGTCCACCCA AGTCTCTTGG GCATAGTGCA
 ATGTCAATTC TTCCACAATA TGGGGTCATT TGATGGACAT GGCCTAACTG CCTGTGGGTT
 CTCTCTTCCT GTTGTTGAGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X04500 BM556327
dbSNP Blast Analysis
UniGene Cluster ID
126256

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1143634 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC
C/C
C/T
T
T/T
HWPC
T
ss104807662MXC-SNC-PNC-POP300508.1 554IG 0.815884470.14801444 0.036101080.001000000.889891680.11010830
MST-NSD-PNC-POP300508.1 264IG 0.696969690.25000000 0.053030300.099721000.821969690.17803030
HCH-NSD-PNC-POP300508.1 30IG 1.00000000 1.00000000
MZH-NSD-PNC-POP300508.1 40IG 0.949999990.05000000 1.000000000.975000020.02500000
MST-NSD-AGP-POP300508.1 48GF 0.791666690.16666667 0.041666670.250592000.875000000.12500000
MST-NSD-CHP-POP300508.1 82GF 0.780487780.19512194 0.024390240.583882000.878048780.12195122
MST-NSD-PHL-POP300508.1 70GF 0.571428600.37142858 0.057142861.000000000.757142840.24285714
ss1298795531EAS 1008AF 0.977199970.02280000
EUR 1006AF 0.752500000.24750000
AFR 1322AF 0.877500060.12250000
AMR 694AF 0.874599990.12540001
SAS 978AF 0.852800010.14719999
ss1556760NIH90Global 168IG 0.738095220.23809524 0.023809521.000000000.857142870.14285715
ss1686475993ExAc_Aggregated_Populations121412AF 0.803569670.19643034
ss200889941BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
BANTU 2IG 1.00000000 0.500000000.50000000
ss219438762pilot_1_YRI_low_coverage_panel 118AF 0.915254240.08474576
ss231310596pilot_1_CEU_low_coverage_panel 120AF 0.741666670.25833333
ss238831858pilot_1_CHB+JPT_low_coverage_panel 120AF 0.958333310.04166667
ss24276021AFD_EUR_PANELEuropean 48IG 0.583333310.25000000 0.166666670.099721000.708333310.29166666
AFD_AFR_PANELAfrican American 46IG 0.826086940.13043478 0.043478260.150222000.891304370.10869565
AFD_CHN_PANELAsian 48IG 0.958333310.04166667 1.000000000.979166690.02083333
ss342075197ESP_Cohort_Populations 4552GF 0.645869970.31326890 0.040861160.583882000.802504420.19749561
ss48407299AGI_ASP populationmultiple 76IG 0.578947370.42105263 0.317310000.789473710.21052632
ss491789900CSAgilent 1322GF 0.553446530.37662339 0.069930070.751830000.741758230.25824177
ss5111337PGA-AFRICAN-PANELAfrican American 48IG 0.791666690.16666667 0.041666670.250592000.875000000.12500000
PGA-EUROPEAN-PANELEuropean 40IG 0.649999980.20000000 0.150000010.050043000.750000000.25000000
CEPH 184AF 0.730000020.27000001
CHMJAsian 74IG0.98648649 0.01351351 0.986486490.01351351
ss52069020HapMap-CEUEuropean 226IG 0.637168170.30973452 0.053097340.527089000.792035400.20796460
HapMap-HCBAsian 86IG 0.976744170.02325581 1.000000000.988372090.01162791
HapMap-JPTAsian 170IG 0.882352950.11764706 1.000000000.941176470.05882353
HapMap-YRISub-Saharan African 226IG 0.840707960.13274336 0.026548670.025056000.907079640.09292036
HAPMAP-ASW 98IG 0.795918350.20408164 0.751830000.897959170.10204082
HAPMAP-CHBAsian 82IG 0.926829280.07317073 1.000000000.963414610.03658536
HAPMAP-CHD 170IG 0.964705880.03529412 1.000000000.982352910.01764706
HAPMAP-GIH 176IG 0.704545440.22727273 0.068181820.050043000.818181810.18181819
HAPMAP-LWK 180IG 0.744444430.25555557 0.527089000.872222240.12777779
HAPMAP-MEX 100IG 0.759999990.23999999 0.654721000.880000000.12000000
HAPMAP-MKK 286IG 0.671328660.27972028 0.048951050.317310000.811188820.18881118
HAPMAP-TSI 176IG 0.579545440.36363637 0.056818181.000000000.761363630.23863636
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss52087347HSP_GENO_PANEL 120IG 0.783333360.20000000 0.016666671.000000000.883333330.11666667
YRI_GENO_PANELSub-Saharan African 120IG 0.816666660.16666667 0.016666670.583882000.899999980.10000000
AAM_GENO_PANELAfrican American 124IG 0.758064510.22580644 0.016129031.000000000.870967750.12903225
CEU_GENO_PANELEuropean 120IG 0.566666660.36666667 0.066666671.000000000.750000000.25000000
CHB_GENO_PANELAsian 90IG 0.977777780.02222222 1.000000000.988888860.01111111
JPT_GENO_PANELAsian 90IG 0.866666670.13333334 1.000000000.933333340.06666667
ss5586652P1 202AF 0.703000010.21799999 0.079000010.004998000.812000040.18799999
CAUC1 62AF 0.547999980.25800002 0.193999990.025056000.676999990.32300001
AFR1 48AF 0.750000000.20800000 0.042000000.438578000.853999970.14600001
HISP1 46AF 0.695999980.26099998 0.043000000.751830000.825999980.17399999
PAC1 46AF 0.870000000.13000000 0.751830000.934999940.06500000
ss69367188PA135246010 946AF 0.797040160.20295984

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.316+/-0.2410000ALFRED: 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
byClusterbyFreqbySubmitterWith1000GenomeData
Validated by: PERLEGEN
UNKNOWNYESYES

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