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Reference SNP (refSNP) Cluster Report: rs579327                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1022/512 (1000 Genomes)
T=0.1339/16810 (TOPMED)
HGVS Names
  • CM000664.2:g.233859421C>T
  • NC_000002.11:g.234768067C>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 ss284563310 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs579327 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
ss750828SC_JCM|AC026497.1_57607byFreqfwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga07/27/0004/07/0483Genomicunknown
ss65830510KRIBB_YJKIM|KHS6302byFreqfwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga10/17/0612/16/06127Genomicunknown
ss66110508AFFY|SNP_A-2007106byFreqrev/BC/Ttggtcttatcattctaggcaaatccaaagttt10/27/0608/14/07127Genomicunknown
ss66813897ILLUMINA|HumanHap300v1.1_rs579327fwd/BA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga11/09/0611/09/06127Genomicunknown
ss67422192ILLUMINA|HumanHap550v1.1_rs579327fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga11/14/0611/14/06127Genomicunknown
ss67782431ILLUMINA|HumanHap650Yv1.0_rs579327fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga11/14/0611/14/06127Genomicunknown
ss70847963ILLUMINA|HumanHap550v3.0__rs579327fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga04/20/0703/31/08130Genomicunknown
ss71432853ILLUMINA|HumanHap650Yv3.0_rs579327fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga04/23/0704/23/07127Genomicunknown
ss75849332ILLUMINA|ILMN_Human_1M_rs579327fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga08/28/0708/29/07129Genomicunknown
ss76090026AFFY|AFFY_6_1M_SNP_A-2007106rev/BC/Ttggtcttatcattctaggcaaatccaaagttt08/28/0708/29/07129Genomicunknown
ss79210175ILLUMINA|HumanHap300v2.0_rs579327fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga04/18/0711/18/07130Genomicunknown
ss83488646KRIBB_YJKIM|KHS473577fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga12/04/0712/05/07130Genomicunknown
ss85160917HGSV|Cor19240_SNV_20070510.chr2_234550067byFreqrev/BC/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt11/30/0709/05/14130Genomicunknown
ss103699326BGI|BGI_rs579327rev/BC/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt06/06/0806/18/09131Genomicunknown
ss1118267051000GENOMES|NA19240_2008_12_16_544106_chr2_234432806rev/BC/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt12/17/0812/17/08130Genomicunknown
ss122476779ILLUMINA|HumanCNV370v1_C_rs579327fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga04/14/0904/15/09131Genomicunknown
ss154341898ILLUMINA|Human610_Quadv1_B_rs579327-128_T_F_1501804706fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga06/18/0906/20/09131Genomicunknown
ss159518509ILLUMINA|Human660W-Quad_v1_A_rs579327-128_T_F_1501804706fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga07/06/0907/07/09131Genomicunknown
ss160747338ILLUMINA|HumanOmni1-Quad_v1-0_B_rs579327-128_T_F_1501804706fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga08/04/0910/04/09131Genomicunknown
ss165700541COMPLETE_GENOMICS|NA19240_36_chr2_234432806rev/BC/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt09/29/0909/30/09132Genomicunknown
ss167604488COMPLETE_GENOMICS|NA20431_36_chr2_234432806rev/BC/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt09/30/0909/30/09132Genomicunknown
ss172045321ILLUMINA|HumanCNV370-Quadv3_C_rs579327-128_T_F_1501804706fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga10/01/0910/04/09132Genomicunknown
ss172468112AFFY|GenomeWideSNP_5_SNP_A-2007106rev/BC/Ttggtcttatcattctaggcaaatccaaagttt10/01/0910/02/09132Genomicunknown
ss173931953ILLUMINA|Human1M-Duov3_B_rs579327-128_T_F_1501804706fwd/TA/Gaacgacctcagtagaaactttggatttgcctagaatgataagaccacccttaatatctga10/01/0910/04/09132Genomicunknown
ss2198816001000GENOMES|pilot_1_YRI_1691283_chr2_234432806rev/C/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt04/22/1004/22/10132Genomicunknown
ss2316359541000GENOMES|pilot_1_CEU_1240583_chr2_234432806rev/C/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt05/01/1005/01/10132Genomicunknown
ss2390835301000GENOMES|pilot_1_CHB+JPT_968607_chr2_234432806rev/C/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt05/01/1005/01/10132Genomicunknown
ss284563310GMI|GMI_NA10851_SNP_576081rev/C/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt12/17/1012/17/10138Genomicunknown
ss481161298ILLUMINA|HumanOmni2.5-4v1_B_rs579327-128_T_F_1775056084rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg01/30/1210/28/16137Genomicunknown
ss481183713ILLUMINA|HumanOmniExpress-12v1_C_rs579327-131_T_F_1857753689rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg01/30/1210/27/16137Genomicunknown
ss482171913ILLUMINA|HumanOmni1-Quad_v1-0_C_rs579327-131_T_F_1865512719rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg01/30/1208/28/15146Genomicunknown
ss485375850ILLUMINA|HumanOmni2.5-4v1_D_rs579327-131_T_F_1857753689rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg01/30/1210/28/16137Genomicunknown
ss491333464EXOME_CHIP|.GWAS._49691_chr_2_234768067rev/BC/Ttcagatattaagggtggtcttatcattctaggcaaatccaaagtttctactgaggtcgtt03/05/1203/05/12137Genomicunknown
ss537316068ILLUMINA|HumanOmni5-4v1_B_rs579327-131_T_F_1885470175rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg06/22/1208/28/15146Genomicunknown
ss649966832SSMP|2_234768067rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg12/14/1202/10/15138Genomicunknown
ss778559465ILLUMINA|HumanOmni25Exome-8v1_A_rs579327-131_T_F_1865512719rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg05/30/1307/09/15146Genomicunknown
ss783133509ILLUMINA|HumanOmni2.5-4v1_H_rs579327-131_T_F_1857753689rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg05/30/1307/28/15146Genomicunknown
ss784089908ILLUMINA|HumanOmniExpressExome-8v1_A_rs579327-131_T_F_1885470175rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg05/31/1306/19/15146Genomicunknown
ss825540693ILLUMINA|HumanCNV370v1_C_rs579327-83_T_F_IFB1137410384:0rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg06/24/1311/21/14144Genomicunknown
ss832392435ILLUMINA|HumanOmniExpress-12v1_H_rs579327-131_T_F_1857753689rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg09/17/1306/18/15146Genomicunknown
ss834016314ILLUMINA|HumanOmni2.5-8v1_A_rs579327-131_T_F_1865512719rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg09/18/1307/28/15146Genomicunknown
ss978089424EVA-GONL|EVA-GONL_rs579327rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg04/23/1404/23/14142Genomicunknown
ss1070036945JMKIDD_LAB|HGDP_WGS_chr2_234768067rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg07/10/1407/10/14142Genomicunknown
ss13021378171000GENOMES|PHASE3_V1_13328136rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg08/16/1408/16/14142Genomicunknown
ss1428950417DDI|DDI_rs579327rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg11/04/1411/04/14144Genomicunknown
ss1579373911EVA_GENOME_DK|EVA_GENOME_DK_snv_rs579327rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg02/19/1502/20/15144Genomicunknown
ss1587549574EVA_DECODE|EVA_DECODE_2_234432806_1751497_rs579327rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg03/02/1503/03/15144Genomicunknown
ss1606059383EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_234768067_7344802rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg03/04/1503/04/15144Genomicunknown
ss1649053416EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_234768067_7344802rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg03/04/1503/04/15144Genomicunknown
ss1712540105EVA_SVP|EVA_SVP_234650rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg03/12/1503/12/15144Genomicunknown
ss1752345395ILLUMINA|OmniExpressExome-8v1-1_B_rs579327-131_T_F_1885470175rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg05/27/1506/09/15146Genomicunknown
ss1921337101WEILL_CORNELL_DGM|SNV:chr2:234768067rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg10/16/1510/17/15147Genomicunknown
ss1969055833GENOMED|rs579327rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg02/16/1602/16/16147Genomicunknown
ss2021216899JJLAB|SNP1719454rev/BC/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg08/29/1608/30/16149Genomicunknown
ss2149283045USC_VALOUEV|NC_000002.11:g.234768067C>Trev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg11/17/1611/17/16150Genomicunknown
ss2240167150HUMAN_LONGEVITY|HLI-2-233859421-C-Trev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg11/18/1611/18/16150Genomicunknown
ss2406630828TOPMED|2_234768067_C/Trev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg11/19/1611/19/16150Genomicunknown
ss2625108816SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV1082969rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg01/06/1701/06/17151Genomicunknown
ss2633755663ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs579327-131_T_F_21311rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg02/02/1702/02/17151Genomicunknown
ss2633755664ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs579327-131_T_F_188547017rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg02/02/1702/02/17151Genomicunknown
ss2633755665ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs579327-131_T_F_21302rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg02/02/1702/02/17151Genomicunknown
ss2703935822GRF|rs579327rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg02/13/1702/13/17151Genomicunknown
ss2787720417GNOMAD|rs579327rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg05/17/1705/17/17151Genomicunknown
ss2985204048AFFY|Axiom_PsorMich_Affx-19509907rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg05/24/1705/24/17151Genomicunknown
ss2991559631SWEGEN|NC_000002.11:g.234768067C>Trev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg05/30/1705/30/17151Genomicunknown
ss3024368635BIOINF_KMB_FNS_UNIBA|2.233859421C>Trev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg07/05/1707/05/17151Genomicunknown
ss3341600319TOPMED|TOPMed_freeze_5?chr2:233,859,421rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg10/02/1710/02/17151Genomicunknown
ss3344798994CSHL|rs579327rev/C/Ttattaagggtggtcttatcattctaggcaaatccaaagtttctactgagg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs579327|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AACCTCTAAC CATTTGTCTT CAAGACTGGA TTAGATTGAA GCAGAAAATA ATCAACATAT
 ATGCATCTGT CTTTCGTGGA ACACTCCCTT ATGCGATCAA TAAACACAAG ATAATCCAGG
 ACAAAACAAA GACAGTTGAA ATAAGACTGC CTACACACAC ACACACACAC ACACACACAC
 ACACACAGCA AGCAGCAGGA GAATAAGCAA AGGTATTTAC TAAATCTTTT ATCCCCAAAC
 CATAAGGTCT AATGATCTTA TAGAAATACC TAGATCTAAT TACTTTGATT ATAAATCCTA
 GGGTAACAAA TTCAGCAATG AAAGCTCAAT GAAACTATCA AGAACTCAGT GTTGAGGCTG
 GCTTACCTGG CAGCAGATAT GAAGGATAAA TGGAGTTTGG CAAAGAGGCC CAGTGAGTAT
 ACCTGTTGGC CTGAGAATGC CCTAGAATGC TTCTAAGGGA GAGTCCTTGA AACGACCTCA
 GTAGAAACTT TGGATTTGCC
 R
 TAGAATGATA AGACCACCCT TAATATCTGA ACTGAAAAGA CAAAGCTGAA TATATTGCTA
 CCAACTATGT GTTGTACCTG CTGTACAATA GCAGCTTTAG AATGTTTGGG GCCATTGTCT
 TATTTGGATA AATGGCCCCT GATTTTGCAA AGCCAAGGTA AAAACACATG AGGGGTGCTG
 TGGTTTAAAT GTGTCCCCCA GAAACATGTA TTGGAAATTT AATCTCCAAT GCAACAGAGT
 TGGGAGGTGA GGCCTAATGA GAGGTGATTA GGCCATATGG CAGAGGGAAT GGACTAATGC
 CATTATTATG GAAATGATCA CAGGAGTGGG TTTCTCATAA AAGAATGAGT TTGAAGGCTG
 GGCACAGTGG CTGTAATCCC AGCACTTTGT GAGGCTGAGG TGGGTGGATT ACTTGAGGTC
 AGGAGTTTGA GACCAGCCTG GCCAAACCCA TCTCTACTAA AAATACAAAA AATTAGCTAG
 GTGTGGTGGC ACGCACCAGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000002 AC005538
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs579327 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1302137817EAS 1008AF 0.055600000.94440001
EUR 1006AF 0.163000000.83699995
AFR 1322AF 0.073400000.92659998
AMR 694AF 0.121000000.87900001
SAS 978AF 0.113500000.88650000
ss165700541YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss167604488PGP 2IG 1.00000000 0.500000000.50000000
ss219881600pilot_1_YRI_low_coverage_panel 118AF 0.093220340.90677965
ss231635954pilot_1_CEU_low_coverage_panel 120AF 0.150000010.85000002
ss239083530pilot_1_CHB+JPT_low_coverage_panel 120AF 0.050000000.94999999
ss65830510KHP1 180AF 0.055555560.944444421.000000000.027777780.97222221
ss66110508HapMap-CEUEuropean 118IG0.016949150.271186440.711864410.751830000.152542370.84745765
HapMap-HCBAsian 90IG0.022222220.133333340.844444450.250592000.088888890.91111112
HapMap-JPTAsian 90IG 0.111111110.888888901.000000000.055555560.94444442
HapMap-YRISub-Saharan African 120IG 0.183333340.816666660.751830000.091666670.90833336
ss76090026ICMHP 8IG 0.250000000.75000000 0.125000000.87500000
ss85160917HapMap-CEUEuropean 226IG0.008849560.256637160.734513280.371093000.137168140.86283183
HapMap-HCBAsian 86IG0.023255810.139534890.837209280.273322000.093023260.90697676
HapMap-JPTAsian 172IG0.011627910.104651160.883720930.250592000.063953490.93604654
HapMap-YRISub-Saharan African 226IG 0.194690270.805309710.654721000.097345140.90265489
HAPMAP-ASW 98IG0.040816330.204081640.755102040.250592000.142857150.85714287
HAPMAP-CHBAsian 82IG 0.024390240.975609781.000000000.012195120.98780489
HAPMAP-CHD 166IG 0.120481930.879518091.000000000.060240970.93975902
HAPMAP-GIH 176IG0.011363640.250000000.738636370.583882000.136363640.86363637
HAPMAP-LWK 180IG 0.244444440.755555570.527089000.122222220.87777776
HAPMAP-MEX 100IG 0.259999990.740000010.654721000.130000000.87000000
HAPMAP-MKK 286IG 0.181818190.818181810.654721000.090909090.90909094
HAPMAP-TSI 176IG0.125000000.306818190.568181810.050043000.278409090.72159094
ENSEMBL_Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.184+/-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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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