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Reference SNP (refSNP) Cluster Report: rs4668356                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0878/10658 (ExAC)
C=0.1583/793 (1000 Genomes)
C=0.1828/2378 (GO-ESP)
C=0.1523/19130 (TOPMED)
HGVS Names
  • CM000664.2:g.170965956C>G
  • CM000664.2:g.170965956C>T
  • NC_000002.11:g.171822466C>T
  • NC_000002.12:g.170965956C>G
  • NC_000002.12:g.170965956C>T
  • NM_001201428.1:c.981C>G
  • NM_001201428.1:c.981C>T
  • NM_015530.4:c.1185C>G
  • NM_015530.4:c.1185C>T
  • NP_001188357.1:p.Ser327=
  • NP_056345.3:p.Ser395=
  • XP_005246507.1:p.Ser407=
  • XP_005246508.1:p.Ser351=
  • XP_005246509.1:p.Ser327=
  • XP_005246510.1:p.Ser327=
  • XP_006712471.1:p.Ser327=
  • XR_923571.2:n.-1955C>G
  • XR_923571.2:n.-1955C>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 ss276787007 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4668356 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
ss6427701WI_SSAHASNP|NT_005332.11_8334389fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac02/12/0310/25/06111Genomicunknown
ss11482849WI_SSAHASNP|chr2.NT_005403.13_21981804fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac07/03/0310/10/03116Genomicunknown
ss20096731CSHL-HAPMAP|CSHL-HuFF-200402.chr2.NT_005403.14_22031883fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac02/21/0403/04/04120Genomicunknown
ss21568724SSAHASNP|WGSA-200403-chr2.chr2.NT_005403.14_22031883fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac03/20/0403/20/04121Genomicunknown
ss28504551MGC_GENOME_DIFF|BC007770x37551287-C22031883Tfwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac08/25/0408/25/04126cDNAunknown
ss44348544ABI|hCV25631965byFreqfwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac07/18/0511/03/06126Genomicunknown
ss48406814APPLERA_GI|hCV25631965byFreqrev/TA/Ggtctgcctttgcagtagttgtggcagggtcgagggtgcgttgctggtgggcgggagggaa09/28/0511/03/06126Genomicunknown
ss65743028ILLUMINA|Human1-rs4668356fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac10/10/0610/10/06127Genomicunknown
ss66842676ILLUMINA|HumanHap300v1.1_rs4668356fwd/TC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac11/09/0611/09/06127Genomicunknown
ss67355961ILLUMINA|HumanHap550v1.1_rs4668356fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac11/14/0611/14/06127Genomicunknown
ss67745038ILLUMINA|HumanHap650Yv1.0_rs4668356fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac11/14/0611/14/06127Genomicunknown
ss70814520ILLUMINA|HumanHap550v3.0__rs4668356rev/TA/Ggtctgcctttgcagtagttgtggcagggtcgagggtgcgttgctggtgggcgggagggaa04/20/0703/30/08130Genomicunknown
ss71395218ILLUMINA|HumanHap650Yv3.0_rs4668356fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac04/23/0704/23/07127Genomicunknown
ss75905828ILLUMINA|ILMN_Human_1M_rs4668356fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac08/28/0708/29/07129Genomicunknown
ss78462300HGSV|Cor12878_SNV_20070510.chr2_171647973fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac10/17/0710/19/07129Genomicunknown
ss79188671ILLUMINA|HumanHap300v2.0_rs4668356fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac04/18/0711/18/07130Genomicunknown
ss83498843HGSV|Cor18555_SNV_20070510.chr2_171647973fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac11/27/0712/05/07130Genomicunknown
ss83802063HGSV|Cor18956_SNV_20070510.chr2_171647973fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac11/30/0712/05/07130Genomicunknown
ss84310377KRIBB_YJKIM|KHS681367fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac12/04/0712/07/07130Genomicunknown
ss91439330BCMHGSC_JDW|JWB-1342191fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac02/26/0803/01/08129Genomicunknown
ss96448115HUMANGENOME_JCVI|1103658287748fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac03/26/0803/26/08130Genomicunknown
ss106139165BGI|BGI_rs4668356fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac09/13/0806/18/09130Genomicunknown
ss1102628241000GENOMES|CEU.trio.12.15.2008_522126_chr2_171530712fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac12/17/0812/17/08130Genomicunknown
ss117973116ILLUMINA-UK|NA18507_000211397_NCBI36.1_chr2_171530712fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac01/19/0901/20/09130Genomic99 %
ss122348972ILLUMINA|HumanCNV370v1_C_rs4668356fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac04/14/0904/15/09131Genomicunknown
ss136065971ENSEMBL|ENSSNP1660614fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac12/08/0810/15/09131Genomicunknown
ss138577196ENSEMBL|ENSSNP12157625fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac05/15/0905/18/09131Genomicunknown
ss154306034ILLUMINA|Human610_Quadv1_B_rs4668356-128_T_R_1501781477rev/TA/Ggtctgcctttgcagtagttgtggcagggtcgagggtgcgttgctggtgggcgggagggaa06/18/0906/20/09131Genomicunknown
ss157981937GMI|GMI_SNP_124505156fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac06/24/0906/25/09131Genomicunknown
ss159482826ILLUMINA|Human660W-Quad_v1_A_rs4668356-128_T_R_1501781477rev/TA/Ggtctgcctttgcagtagttgtggcagggtcgagggtgcgttgctggtgggcgggagggaa07/06/0907/07/09131Genomicunknown
ss159703108SEATTLESEQ|GORASP2-171530712fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac07/10/0907/10/09131Genomicunknown
ss165607304COMPLETE_GENOMICS|NA07022_36_chr2_171530712fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac09/29/0909/30/09132Genomicunknown
ss167412954COMPLETE_GENOMICS|NA20431_36_chr2_171530712fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac09/30/0909/30/09132Genomicunknown
ss171852932ILLUMINA|HumanCNV370-Quadv3_C_rs4668356-128_T_R_1501781477rev/TA/Ggtctgcctttgcagtagttgtggcagggtcgagggtgcgttgctggtgggcgggagggaa10/01/0910/04/09132Genomicunknown
ss173773816ILLUMINA|Human1M-Duov3_B_rs4668356-128_T_R_1501781477rev/TA/Ggtctgcctttgcagtagttgtggcagggtcgagggtgcgttgctggtgggcgggagggaa10/01/0910/04/09132Genomicunknown
ss201369313BUSHMAN|BUSHMAN-chr2-171530711byFreqfwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac02/16/1009/05/14132Genomicunknown
ss205856116BCM-HGSC-SUB|BCM_CMT_1011-434446fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac03/15/1003/16/10132Genomicunknown
ss2110423411000GENOMES|YRI.trio.3.2010_209818_chr2_171530712fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac03/29/1003/29/10132Genomicunknown
ss2196532551000GENOMES|pilot_1_YRI_1462938_chr2_171530712fwd/C/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac04/22/1004/22/10132Genomicunknown
ss2314681531000GENOMES|pilot_1_CEU_1072782_chr2_171530712fwd/C/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac05/01/1005/01/10132Genomicunknown
ss2389570731000GENOMES|pilot_1_CHB+JPT_842150_chr2_171530712fwd/C/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac05/01/1005/01/10132Genomicunknown
ss253678168BL|SNP178356_2_171530712fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac08/18/1008/18/10134Genomicunknown
ss276787007GMI|GMI_AK_SNP_1107216fwd/C/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac12/16/1012/16/10137Genomicunknown
ss292424537PJP|SNP_1930895_chr2_171530712fwd/C/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac01/21/1101/21/11134Genomicunknown
ss342086334NHLBI-ESP|ESP2500-chr2-171822466byFreqfwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac03/25/1109/05/14134Genomicunknown
ss4898409571000GENOMES|20110521_exome_353908_chr2_171822466fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac02/10/1202/21/12137Genomicunknown
ss491327047EXOME_CHIP|.GWAS._43274_chr_2_171822466fwd/BC/Tttccctcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaaggcagac03/05/1203/05/12137Genomicunknown
ss491794669CLINSEQ_SNP|SNV-chr2-171530712byFreqfwd/C/G/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/06/1209/05/14137Genomicunknown
ss537255687ILLUMINA|HumanOmni5-4v1_B_rs4668356-131_T_R_1885472134fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg06/22/1208/28/15146Genomicunknown
ss556034831TISHKOFF|snp_chr2_171822466fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg11/22/1211/23/12138Genomicunknown
ss649687488SSMP|2_171822466fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg12/14/1202/10/15138Genomicunknown
ss780685193ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs4668356-131_T_R_1990492426fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg05/30/1307/09/15146Genomicunknown
ss783358674ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs4668356-131_T_R_1990492426fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg05/31/1306/19/15146Genomicunknown
ss825519189ILLUMINA|HumanCNV370v1_C_rs4668356-126_T_R_IFB1137686859:0fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg06/24/1311/21/14144Genomicunknown
ss1067442506JMKIDD_LAB|HGDP_exomes_chr2_171822466fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg07/09/1407/09/14142Genomicunknown
ss1069703221JMKIDD_LAB|HGDP_WGS_chr2_171822466fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg07/10/1407/10/14142Genomicunknown
ss13004153521000GENOMES|PHASE3_V1_11530655fwd/C/Gtcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg08/16/1408/16/14142Genomicunknown
ss13004153531000GENOMES|PHASE3_V1_11530656fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg08/16/1408/16/14142Genomicunknown
ss1428820632DDI|DDI_rs4668356fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg11/04/1411/04/14144Genomicunknown
ss1579197147EVA_GENOME_DK|EVA_GENOME_DK_snv_rs4668356fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg02/19/1502/20/15144Genomicunknown
ss1587079505EVA_DECODE|EVA_DECODE_2_171530712_1281421_rs4668356fwd/C/Gtcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/02/1503/03/15144Genomicunknown
ss1587079506EVA_DECODE|EVA_DECODE_2_171530712_1281422_rs4668356fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/02/1503/03/15144Genomicunknown
ss1605140663EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_171822466_6331138fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/04/1503/04/15144Genomicunknown
ss1605140664EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_171822466_6331139fwd/C/Gtcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/04/1503/04/15144Genomicunknown
ss1648134696EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_171822466_6331138fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/04/1503/04/15144Genomicunknown
ss1648134697EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_171822466_6331139fwd/C/Gtcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/04/1503/04/15144Genomicunknown
ss1686594418EVA_EXAC|EVA_EXAC_1483578fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/04/1503/04/15144Genomicunknown
ss1686594419EVA_EXAC|EVA_EXAC_1483579fwd/C/Gtcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/04/1503/04/15144Genomicunknown
ss1710986974EVA_MGP|EVA_XIMO_103513fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/09/1503/09/15144Genomicunknown
ss1710986975EVA_MGP|EVA_XIMO_103514fwd/C/Gtcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/09/1503/09/15144Genomicunknown
ss1712509370EVA_SVP|EVA_SVP_203922fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg03/12/1503/12/15144Genomicunknown
ss1752323557ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs4668356-131_T_R_1990492426fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg05/27/1506/09/15146Genomicunknown
ss1797911157HAMMER_LAB|Hsieh_1215736fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg07/15/1507/15/15146Genomicunknown
ss1917756053ILLUMINA|HumanExome-12v1-1_B_exm-rs4668356-131_T_R_1990492426fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg10/16/1510/16/15147Genomicunknown
ss1920894281WEILL_CORNELL_DGM|SNV:chr2:171822466fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg10/16/1510/16/15147Genomicunknown
ss1946058351ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs4668356-131_T_R_1990492426fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg10/29/1510/29/15147Genomicunknown
ss1958478979ILLUMINA|exm-rs4668356-131_T_R_1990492426fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg11/13/1511/13/15147Genomicunknown
ss1968952537GENOMED|rs4668356fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg02/16/1602/16/16147Genomicunknown
ss2020982162JJLAB|SNP1484717fwd/BC/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg08/29/1608/30/16149Genomicunknown
ss2149047518USC_VALOUEV|NC_000002.11:g.171822466C>Tfwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg11/17/1611/17/16150Genomicunknown
ss2236551281HUMAN_LONGEVITY|HLI-2-170965956-C-G,Tfwd/C/G/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg11/18/1611/18/16150Genomicunknown
ss2402965912TOPMED|2_171822466_C/Tfwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg11/19/1611/19/16150Genomicunknown
ss2624995320SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV936426fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg01/06/1701/06/17151Genomicunknown
ss2633704766ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs4668356-131_T_R_18854721fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg02/02/1702/02/17151Genomicunknown
ss2633704767ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs4668356-131_T_R_2130fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg02/02/1702/02/17151Genomicunknown
ss2703685528GRF|rs4668356fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg02/13/1702/13/17151Genomicunknown
ss2733110125GNOMAD|exomes_rs4668356fwd/C/G/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg05/17/1705/17/17151Genomicunknown
ss2746815329GNOMAD|coding_rs4668356fwd/C/G/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg05/17/1705/17/17151Genomicunknown
ss2782781992GNOMAD|rs4668356fwd/C/G/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg05/17/1705/17/17151Genomicunknown
ss2985191636AFFY|Axiom_PsorMich_Affx-18473159fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg05/24/1705/24/17151Genomicunknown
ss2990860077SWEGEN|NC_000002.11:g.171822466C>Tfwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg05/30/1705/30/17151Genomicunknown
ss2990860078SWEGEN|NC_000002.11:g.171822466C>Gfwd/C/Gtcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg05/30/1705/30/17151Genomicunknown
ss3024251484BIOINF_KMB_FNS_UNIBA|2.170965956C>Tfwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg07/05/1707/05/17151Genomicunknown
ss3330185252TOPMED|TOPMed_freeze_5?chr2:170,965,956-01fwd/C/Gtcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg10/02/1710/02/17151Genomicunknown
ss3330185253TOPMED|TOPMed_freeze_5?chr2:170,965,956-02fwd/C/Ttcccgcccaccagcaacgcaccctcgaccctgccacaactactgcaaagg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4668356|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 ATCCAGTGTA GCTGTGTCAC CTGCTGGGTG GGCTGCTATC TCTTCTGACT GGAAGGATCC
 TATCTATCTT TCTTCCCTGA GCCAGTTTCC CCCAGTGCTG GGCCAGGTTA CATGGAGCCT
 AGAAGTTGAG AACCTATTCC TTCAGGCAGC TGCGATTGTA GGGAATAGTT AACCCTGCCA
 GGGCCTCTAT CTGGAAATCA GCCAAGGTTG TGATTTGTGT TACCTCCTCA ACTTCAGTTT
 CCTTAATGAA ATGTAAATAA AAATAGCCCT TTGACAATGC CTGCTGTCCT TTCAGTGCTG
 GGAGGATGTA TGATCTATGC CGTTTTTGTC CTAGGTCTGC CACCTCTTCC TTCCATGCCT
 CCCCGAAACT TACCTGGCAT TGCACCTCTC CCCCTGCCAT CCGAGTTCCT CCCGTCATTC
 CCCTTGGTTC CAGAGAGCTC TTCTGCAGCA AGCTCAGGAG AGCTGCTGTC TTCCCTCCCG
 CCCACCAGCA ACGCACCCTC
 B
 GACCCTGCCA CAACTACTGC AAAGGCAGAC GCTGCCTCCT CACTCACTGT GGATGTGACG
 CCCCCCACTG CCAAGGCCCC CACCACCGTT GAGGACAGAG TCGGCGACTC CACCCCAGTC
 AGCGAGAAGC CTGTTTCTGC GGCTGTGGAT GCCAATGCTT CTGAGTCACC TTAACTTTGA
 ACCATTCTTT GGAATTGGCG TGGTATATTT AACCACGGGA GCGTGTCTGG AAACGCAAAC
 TATCATTAAT TTCATACTAG TTTGTACCGT ATCTGTAGGC ATCCTGTAAA TAATTCCAAG
 GGGAAAACTA AACGAGGACG TGGGTTGTAT CCTGCCAGGT TGAGTGGGGC TCACACGCTA
 GGGTGAGATG TCAGAAAGCG CTTGTATTTT AAACAACCAA AAAGAATTGT AAGGGTGGCT
 TGCTGCCAGG CTTGCACTGC CGTTCCTGGG GGTGTGCATC TTCGGGAAAG GTGGTGGCGG
 GGCGTCCACT AGGTTTCCTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005403 ABBA01014921 BC007770
dbSNP Blast Analysis
UniGene Cluster ID
431317

  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
G/T
T/T
HWPC
G
T
ss117973116YRI 2IG 1.00000000 0.50000000 0.50000000
ss136065971ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 2IG 1.00000000 1.00000000
ss138577196ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss165607304CEUEuropean 2IG 1.00000000 1.00000000
ss167412954PGP 2IG 1.00000000 1.00000000
ss1686594418ExAc_Aggregated_Populations121135AF 0.08812482 0.91187519
ss1686594419ExAc_Aggregated_Populations 10952AF 0.974707840.02529218
ss201369313BUSHMAN_POP 6IG 1.00000000 0.50000000 0.50000000
ss219653255pilot_1_YRI_low_coverage_panel 118AF 0.52542371 0.47457626
ss231468153pilot_1_CEU_low_coverage_panel 120AF 0.07500000 0.92500001
ss238957073pilot_1_CHB+JPT_low_coverage_panel 120AF 1.00000000
ss342086334ESP_Cohort_Populations 4524GF0.072502210.26746243 0.660035370.001000000.20623343 0.79376656
ss44348544HapMap-CEUEuropean 224IG0.008928570.10714286 0.883928600.371093000.06250000 0.93750000
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 88IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 222IG0.189189200.59459460 0.216216220.050043000.48648649 0.51351351
HAPMAP-ASW 96IG0.187500000.50000000 0.312500001.000000000.43750000 0.56250000
HAPMAP-GIH 176IG 0.02272727 0.977272751.000000000.01136364 0.98863637
HAPMAP-LWK 178IG0.179775280.42696628 0.393258420.342782000.39325842 0.60674155
HAPMAP-MEX 100IG0.040000000.25999999 0.699999990.583882000.17000000 0.82999998
HAPMAP-MKK 278IG0.079136690.45323741 0.467625890.438578000.30575541 0.69424462
HAPMAP-TSI 176IG0.011363640.13636364 0.852272750.527089000.07954545 0.92045456
ss48406814AGI_ASP populationmultiple 70IG0.028571430.11428571 0.857142870.150222000.08571429 0.91428572
ss491794669CSAgilent 1322GF0.005994010.143856140.004995010.845154821.000000000.077922080.002497500.91958040
ss96448115J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.164+/-0.2360000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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