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Reference SNP (refSNP) Cluster Report: rs306549                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.1777/890 (1000 Genomes)
C=0.1906/23938 (TOPMED)
HGVS Names
  • CM000671.2:g.132594789C>A
  • CM000671.2:g.132594789C>G
  • NC_000009.11:g.135470176C>G
  • NC_000009.12:g.132594789C>A
  • NC_000009.12:g.132594789C>G
  • NM_001322340.1:c.*77G>C
  • NM_001322340.1:c.*77G>T
  • NM_001322341.1:c.*77G>C
  • NM_001322341.1:c.*77G>T
  • NM_001322342.1:c.*77G>C
  • NM_001322342.1:c.*77G>T
  • NM_001322343.1:c.*77G>C
  • NM_001322343.1:c.*77G>T
  • NM_022779.8:c.*77G>C
  • NM_022779.8:c.*77G>T
  • NR_136309.1:n.2648G>C
  • NR_136309.1:n.2648G>T
  • XR_001746366.1:n.2680G>C
  • XR_001746366.1:n.2680G>T
  • XR_246600.1:n.2756G>C
  • XR_246600.4:n.2762G>C
  • XR_246600.4:n.2762G>T
  • XR_929836.2:n.2705G>C
  • XR_929836.2:n.2705G>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 ss280423739 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs306549 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
ss394479KWOK|OVLP-000621-227015rev/BC/Gtggattgatgtccagttcttgtcagaggagcttgtgaaaaataactgcgcctttgcctga06/30/0010/10/0379Genomic99 %
ss477727SC_JCM|AL160165.3_92522byFreqrev/BC/Gtggattgatgtccagttcttgtcagaggagcttgtgaaaaataactgcgcctttgcctga07/12/0004/07/0480Genomicunknown
ss949857KWOK|OVLP-000804-396731fwd/TC/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca09/01/0010/10/0386Genomic99 %
ss950820KWOK|OVLP-000804-402216fwd/TC/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca09/01/0010/10/0386Genomic99 %
ss1584484KWOK|OVLP-000925-189225fwd/TC/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca10/04/0010/10/0387Genomic99 %
ss1585006KWOK|OVLP-000925-193127fwd/TC/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca10/04/0010/10/0387Genomic99 %
ss6867653WI_SSAHASNP|NT_035014.2_636931fwd/TC/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca02/12/0310/10/03111Genomicunknown
ss10495441BCM_SSAHASNP|chr9.NT_035014.3_2247116fwd/TC/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca06/29/0310/10/03116Genomicunknown
ss14355860WI_SSAHASNP|chr9.NT_035014.3_2247116fwd/TC/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca11/05/0311/22/03119Genomicunknown
ss15864149SC_SNP|NT_035014.3_2247116fwd/TC/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca11/17/0311/22/03120Genomicunknown
ss22801840SSAHASNP|WGSA-200403-chr9.chr9.NT_035014.3_2247116fwd/TC/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca03/21/0403/21/04121Genomicunknown
ss65734043ILLUMINA|Human1-rs306549fwd/?C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca10/10/0610/10/06127Genomicunknown
ss66148298AFFY|SNP_A-2124365byFreqfwd/TC/Gagttatttttcacaagctcctctgacaagaac10/27/0608/14/07127Genomicunknown
ss76173941AFFY|AFFY_6_1M_SNP_A-2124365fwd/C/Gagttatttttcacaagctcctctgacaagaac08/28/0708/30/07130Genomicunknown
ss76886165SI_EXO|NT_035014.4_2247116byFreqfwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca09/20/0709/05/14129Genomicunknown
ss81415707KRIBB_YJKIM|KHS41892fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca11/30/0711/30/07130Genomicunknown
ss83746041HGSV|Cor19240_SNV_20070510.chr9_132499730fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca11/30/0712/05/07130Genomicunknown
ss94180712BCMHGSC_JDW|JWB-2656471fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca02/26/0803/06/08129Genomicunknown
ss97754304HUMANGENOME_JCVI|1103652197320fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca03/30/0803/30/08130Genomicunknown
ss105706134BGI|BGI_rs306549fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca09/10/0806/18/09130Genomicunknown
ss1091129841000GENOMES|CEU.trio.12.15.2008_2264732_chr9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca12/16/0812/16/08130Genomicunknown
ss1151514961000GENOMES|NA19240_2008_12_16_2047252_chr9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca12/19/0812/19/08130Genomicunknown
ss115810102ILLUMINA-UK|NA18507_000140432_NCBI36.1_chr9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca01/15/0901/16/09130Genomic99 %
ss134218034ENSEMBL|ENSSNP2942263fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca12/08/0810/15/09131Genomicunknown
ss144392509ENSEMBL|ENSSNP13729236fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca06/05/0906/06/09131Genomicunknown
ss158031229GMI|GMI_SNP_32334609fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca06/24/0906/25/09131Genomicunknown
ss165874154COMPLETE_GENOMICS|NA19240_36_chr9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca09/29/0909/30/09132Genomicunknown
ss167014841COMPLETE_GENOMICS|NA20431_36_chr9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca09/30/0909/30/09132Genomicunknown
ss168927021ILLUMINA|Human1M-Duov3_B_GA007908-0_T_F_1533430711fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca10/01/0910/01/09132Genomicunknown
ss172712239AFFY|GenomeWideSNP_5_SNP_A-2124365fwd/C/Gagttatttttcacaagctcctctgacaagaac10/01/0910/02/09132Genomicunknown
ss200959871BUSHMAN|BUSHMAN-chr9-134459996fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca02/16/1003/07/10132Genomicunknown
ss206641299BCM-HGSC-SUB|BCM_CMT_1011-1812271fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca03/15/1003/18/10132Genomicunknown
ss2244861721000GENOMES|pilot_1_YRI_6295855_chr9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca04/22/1004/22/10132Genomicunknown
ss2349940611000GENOMES|pilot_1_CEU_4598690_chr9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca05/01/1005/01/10132Genomicunknown
ss2417389441000GENOMES|pilot_1_CHB+JPT_3624021_chr9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca05/01/1005/01/10132Genomicunknown
ss254606456BL|SNP125980_9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca08/19/1008/19/10134Genomicunknown
ss280423739GMI|GMI_AK_SNP_4744056fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca12/16/1012/16/10137Genomicunknown
ss286103592GMI|GMI_NA10851_SNP_2116373fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca12/17/1012/17/10138Genomicunknown
ss294383855PJP|SNP_3890213_chr9_134459997fwd/C/Gtcaggcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatcaatcca01/21/1101/21/11134Genomicunknown
ss491945113CLINSEQ_SNP|SNV-chr9-134459997byFreqfwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca03/06/1209/05/14137Genomicunknown
ss535677691ILLUMINA|HumanOmni5-4v1_B_kgp5046469-0_T_F_1802628742fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca06/22/1208/29/15146Genomicunknown
ss561676119TISHKOFF|snp_chr9_135470176fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca11/22/1211/23/12138Genomicunknown
ss656172323SSMP|9_135470176fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca12/14/1202/12/15138Genomicunknown
ss987046573EVA-GONL|EVA-GONL_rs306549fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca04/23/1404/25/14142Genomicunknown
ss1067508510JMKIDD_LAB|HGDP_exomes_chr9_135470176fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca07/09/1407/09/14142Genomicunknown
ss1076656115JMKIDD_LAB|HGDP_WGS_chr9_135470176fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca07/10/1407/11/14142Genomicunknown
ss13357161391000GENOMES|PHASE3_V1_48298504fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca08/16/1408/16/14142Genomicunknown
ss1431978995DDI|DDI_rs306549fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca11/04/1411/05/14144Genomicunknown
ss1583282641EVA_GENOME_DK|EVA_GENOME_DK_snv_rs306549fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca02/19/1502/20/15144Genomicunknown
ss1584065334EVA_FINRISK|EVA_FINRISK_rs306549fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca02/27/1502/27/15144Genomicunknown
ss1596693168EVA_DECODE|EVA_DECODE_9_134459997_869801_rs306549fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca03/02/1503/03/15144Genomicunknown
ss1623702383EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_9_135470176_26702702fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca03/04/1503/04/15144Genomicunknown
ss1666696416EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_9_135470176_26702702fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca03/04/1503/04/15144Genomicunknown
ss1711240716EVA_MGP|EVA_XIMO_356476fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca03/09/1503/09/15144Genomicunknown
ss1713145833EVA_SVP|EVA_SVP_840200fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca03/12/1503/12/15144Genomicunknown
ss1806189514HAMMER_LAB|Hsieh_5206714fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca07/15/1507/16/15146Genomicunknown
ss1930360061WEILL_CORNELL_DGM|SNV:chr9:135470176fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca10/16/1510/17/15147Genomicunknown
ss1971321521GENOMED|rs306549fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca02/16/1602/16/16147Genomicunknown
ss2025903765JJLAB|SNP6406320fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca08/29/1608/30/16149Genomicunknown
ss2154138605USC_VALOUEV|NC_000009.11:g.135470176C>Gfwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca11/17/1611/17/16150Genomicunknown
ss2314980658HUMAN_LONGEVITY|HLI-9-132594789-C-Gfwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca11/18/1611/18/16150Genomicunknown
ss2485510650TOPMED|9_135470176_C/Gfwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca11/20/1611/20/16150Genomicunknown
ss2627419937SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4065335fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca01/06/1701/06/17151Genomicunknown
ss2710023952GRF|rs306549fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca02/13/1702/13/17151Genomicunknown
ss2883961841GNOMAD|rs306549fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca05/19/1705/19/17151Genomicunknown
ss3005700025SWEGEN|NC_000009.11:g.135470176C>Gfwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca05/30/1705/30/17151Genomicunknown
ss3026733669BIOINF_KMB_FNS_UNIBA|9.132594789C>Gfwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca07/05/1707/05/17151Genomicunknown
ss3348886124CSHL|rs306549fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca10/02/1710/02/17151Genomicunknown
ss3602299076TOPMED|TOPMed_freeze_5?chr9:132,594,789-01fwd/A/Ccaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca10/07/1710/07/17151Genomicunknown
ss3602299077TOPMED|TOPMed_freeze_5?chr9:132,594,789-02fwd/C/Gcaaaggcgcagttatttttcacaagctcctctgacaagaactggacatca10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs306549|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 CTGAGAACAC ATTCGTATTT TTTGACCCAG ACCAAAAACT TTTGGTCCTT TTTAACGGTA
 CATTCCTACA TTAAGAAAAT AATTAGTGAT AAATATATTC TCTTTTTGTA CAAATTCAAT
 TCCAGTTTTT AACACCCTAA TTCACAAAAT TCATGCCAAT GTATGCGCTG ATAGGCTGAA
 GCCAAGCTGT GAAACTTCAG AACACAGTTA AGGGCAGCAA TCAAGCCCGT TCCAGGCTGA
 CGCGCAGGGC GTTCTTACAT CACATCCCGG GGTGCCAGCT CAACCCCGGC ACGTCAGCAC
 CTGGGTGAAG GGAGTGCCGG GCACTGATGG GATCAATACA AGACACAGAC CCCTTCCGTC
 GGGAGCTGGC TAGTCTCTAC AGTGCCCCAC ACCACTGATT TCTATCAGGC TCCAGGGCCT
 CCCATGGAGG AGAAGGGCTG TGGCCCCTCT GATTCTTGGG GACGTGGTAT TCAGGCAAAG
 GCGCAGTTAT TTTTCACAAG
 V
 CTCCTCTGAC AAGAACTGGA CATCAATCCA CTGCCACCCG GGGCTTCCAG GTTCCACTCG
 AAGACCCAGA GAGATTTTAA ACTTTCTGGG AAGTCTTGCT GTCCCGCTGT ACACCTTTTT
 GGGTTTTTCT CCATTTTAAT GTTTTCCCAC GGCCAAAGCA GGGTGTCGGC TGCAGACTGT
 GCTGCAGGGG CCGGCCACCA GGCTCTCCAG GTGCGTTTTG CTTTTTGACC TTGGCGATGT
 CGGCCTCCAT GCCGCTTGAG TATTCCGAAC GTAGGATTTC AGCGAGGCTG TGTTTACTCT
 GGGTCTTCTT ATGAAGGTCA GGCCTGAAGA ACAGTAACAG CAGAGAGGGA AAAGAAACTT
 TATTATTTTT CTTTCCCATT TGGAAAGAGG CTGATAGCAG CTGGTTCTGA GACTGTGAAG
 CTGACATTTT TGTATTAACA GAAGTACAAT CCCTTCAATA GTACTTGTTT TGATATTCGA
 TGCACCAGAA GATTAGATAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_035014.4 ABBA01032484 AC015488 AL160165.5 AL160165.6 AL354735.10 AL354735.9
dbSNP Blast Analysis
UniGene Cluster ID
495410

  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/G
G/G
HWPC
G
ss115810102YRI 2IG 1.00000000 1.00000000
ss1335716139EAS 1008AF 0.298599990.70140004
EUR 1006AF 0.227600010.77240002
AFR 1322AF 0.061300000.93870002
AMR 694AF 0.159899990.84010005
SAS 978AF 0.171800000.82820004
ss134218034ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss144392509ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss165874154YRISub-Saharan African 2IG 1.00000000 1.00000000
ss167014841PGP 2IG 1.00000000 1.00000000
ss224486172pilot_1_YRI_low_coverage_panel 118AF 0.042372880.95762712
ss234994061pilot_1_CEU_low_coverage_panel 120AF 0.291666660.70833331
ss241738944pilot_1_CHB+JPT_low_coverage_panel 120AF 0.333333340.66666669
ss477727CEPH 184AF 0.160000000.83999997
ss491945113CSAgilent 593GF0.054000000.367000010.579000001.000000000.237500000.76249999
ss66148298HapMap-CEUEuropean 118IG0.084745760.457627120.457627120.654721000.313559320.68644071
HapMap-HCBAsian 90IG0.044444450.400000010.555555580.583882000.244444440.75555557
HapMap-JPTAsian 90IG0.155555560.533333360.311111120.583882000.422222230.57777780
HapMap-YRISub-Saharan African 120IG0.016666670.050000000.933333340.004998000.041666670.95833331
ss76173941ICMHP 6IG 1.00000000 1.00000000
ss76886165HapMap-CEUEuropean 226IG0.070796460.371681420.557522121.000000000.256637160.74336284
HapMap-HCBAsian 86IG0.046511630.395348850.558139560.654721000.244186040.75581396
HapMap-JPTAsian 172IG0.127906980.581395330.290697660.099721000.418604640.58139533
HapMap-YRISub-Saharan African 224IG0.008928570.107142860.883928600.371093000.062500000.93750000
HAPMAP-ASW 98IG 0.265306120.734693880.654721000.132653060.86734694
HAPMAP-CHBAsian 82IG0.097560970.365853670.536585390.583882000.280487810.71951222
HAPMAP-CHD 164IG0.024390240.329268310.646341440.527089000.189024390.81097561
HAPMAP-GIH 174IG0.034482760.275862070.689655181.000000000.172413800.82758623
HAPMAP-LWK 174IG 0.114942530.885057451.000000000.057471260.94252872
HAPMAP-MEX 100IG0.060000000.300000010.639999990.527089000.209999990.79000002
HAPMAP-MKK 286IG 0.167832170.832167800.751830000.083916080.91608393
HAPMAP-TSI 174IG0.022988510.310344820.666666690.583882000.178160920.82183909
ss97754304J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.292+/-0.2460000

  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: ILLUMINA
DoubleHit found by:  NCBI
UNKNOWNUNKNOWNUNKNOWN

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