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Reference SNP (refSNP) Cluster Report: rs7047865                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4063/2035 (1000 Genomes)
T=0.4852/60928 (TOPMED)
HGVS Names
  • CM000671.2:g.76050860T>G
  • NC_000009.11:g.78665776T>G
  • NC_000009.12:g.76050860T>G
  • NG_029445.1:g.165217T>G
  • NM_001190482.1:c.633-17095T>G
  • NM_006200.5:c.633-17095T>G
  • NR_120409.1:n.1171-17095T>G
  • XR_929806.1:n.1214-17095T>G
  • XR_929807.1:n.1214-17095T>G
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 ss280266438 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7047865 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
ss10543427BCM_SSAHASNP|chr9.NT_023935.15_7830308fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct06/29/0310/10/03116Genomicunknown
ss15860944SC_SNP|NT_023935.16_7830308fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct11/17/0311/22/03120Genomicunknown
ss20364057CSHL-HAPMAP|CSHL-HuFF-200402.chr9.NT_023935.16_7830308fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct02/21/0403/04/04120Genomicunknown
ss43875880ABI|hCV2742914byFreqfwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct07/18/0511/03/06126Genomicunknown
ss66785999ILLUMINA|HumanHap300v1.1_rs7047865fwd/TG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct11/09/0611/09/06127Genomicunknown
ss67534245ILLUMINA|HumanHap550v1.1_rs7047865fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct11/14/0611/14/06127Genomicunknown
ss67904477ILLUMINA|HumanHap650Yv1.0_rs7047865fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct11/14/0611/14/06127Genomicunknown
ss70904902ILLUMINA|HumanHap550v3.0__rs7047865rev/TA/Caggagcagaaaattgttctgggattgctggctctcttggtgaagacataaaccagatact04/20/0703/31/08130Genomicunknown
ss71501108ILLUMINA|HumanHap650Yv3.0_rs7047865fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct04/23/0704/23/07127Genomicunknown
ss75783436ILLUMINA|ILMN_Human_1M_rs7047865fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct08/28/0708/29/07129Genomicunknown
ss79243828ILLUMINA|HumanHap300v2.0_rs7047865fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct04/18/0711/18/07130Genomicunknown
ss84605110KRIBB_YJKIM|KHS756256fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct12/04/0712/07/07130Genomicunknown
ss97729963HUMANGENOME_JCVI|1103652100719fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct03/30/0803/30/08130Genomicunknown
ss104623762BGI|BGI_rs7047865fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct06/08/0806/18/09131Genomicunknown
ss1088183941000GENOMES|CEU.trio.12.15.2008_2189595_chr9_77855596fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct12/16/0812/16/08130Genomicunknown
ss1145655661000GENOMES|NA19240_2008_12_16_1977652_chr9_77855596fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct12/18/0812/18/08130Genomicunknown
ss115740026ILLUMINA-UK|NA18507_000070439_NCBI36.1_chr9_77855596fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct01/15/0901/16/09130Genomic99 %
ss122678004ILLUMINA|HumanCNV370v1_C_rs7047865fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct04/14/0904/15/09131Genomicunknown
ss143187058ENSEMBL|ENSSNP3041437byFreqfwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct12/08/0803/07/10131Genomicunknown
ss154400894ILLUMINA|Human610_Quadv1_B_rs7047865-128_T_R_1501838750rev/TA/Caggagcagaaaattgttctgggattgctggctctcttggtgaagacataaaccagatact06/18/0906/20/09131Genomicunknown
ss157600755GMI|GMI_SNP_31760970fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct06/24/0906/25/09131Genomicunknown
ss159576281ILLUMINA|Human660W-Quad_v1_A_rs7047865-128_T_R_1501838750rev/TA/Caggagcagaaaattgttctgggattgctggctctcttggtgaagacataaaccagatact07/06/0907/07/09131Genomicunknown
ss164227046COMPLETE_GENOMICS|NA07022_36_chr9_77855596fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct09/29/0909/29/09132Genomicunknown
ss165200016COMPLETE_GENOMICS|NA19240_36_chr9_77855596fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct09/29/0909/30/09132Genomicunknown
ss166542453COMPLETE_GENOMICS|NA20431_36_chr9_77855596fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct09/30/0909/30/09132Genomicunknown
ss172238098ILLUMINA|HumanCNV370-Quadv3_C_rs7047865-128_T_R_1501838750rev/TA/Caggagcagaaaattgttctgggattgctggctctcttggtgaagacataaaccagatact10/01/0910/04/09132Genomicunknown
ss174219413ILLUMINA|Human1M-Duov3_B_rs7047865-128_T_R_1501838750rev/TA/Caggagcagaaaattgttctgggattgctggctctcttggtgaagacataaaccagatact10/01/0910/04/09132Genomicunknown
ss200461783BUSHMAN|BUSHMAN-chr9-77855595fwd/BG/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct02/16/1003/07/10132Genomicunknown
ss2242730031000GENOMES|pilot_1_YRI_6082686_chr9_77855596fwd/G/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct04/22/1004/22/10132Genomicunknown
ss2348376411000GENOMES|pilot_1_CEU_4442270_chr9_77855596fwd/G/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct05/01/1005/01/10132Genomicunknown
ss2416087511000GENOMES|pilot_1_CHB+JPT_3493828_chr9_77855596fwd/G/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct05/01/1005/01/10132Genomicunknown
ss280266438GMI|GMI_AK_SNP_4586755fwd/G/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct12/16/1012/16/10137Genomicunknown
ss286036461GMI|GMI_NA10851_SNP_2049242fwd/G/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct12/17/1012/17/10138Genomicunknown
ss294293066PJP|SNP_3799424_chr9_77855596fwd/G/Tagtatctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctgctcct01/21/1101/21/11134Genomicunknown
ss410946180ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs7047865rev/TA/Caggagcagaaaattgttctgggattgctggctctcttggtgaagacataaaccagatact06/07/1106/07/11135Genomicunknown
ss483966417ILLUMINA|HumanOmni2.5-4v1_D_kgp7756297-0_B_F_1801144584fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg01/30/1210/28/16137Genomicunknown
ss485807825ILLUMINA|HumanOmni2.5-4v1_B_SNP9-77855596-0_B_F_1619573296fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg01/30/1210/29/16137Genomicunknown
ss536160121ILLUMINA|HumanOmni5-4v1_B_kgp7756297-0_B_F_1801144584fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg06/22/1208/29/15146Genomicunknown
ss561415029TISHKOFF|snp_chr9_78665776fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg11/22/1211/23/12138Genomicunknown
ss655903999SSMP|9_78665776fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg12/14/1202/12/15138Genomicunknown
ss780475659ILLUMINA|HumanOmni25Exome-8v1_A_kgp7756297-0_B_F_1801144584fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg05/30/1307/10/15142Genomicunknown
ss782427291ILLUMINA|HumanOmni2.5-4v1_H_kgp7756297-0_B_F_1801144584fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg05/30/1307/29/15142Genomicunknown
ss825574346ILLUMINA|HumanCNV370v1_C_rs7047865-126_T_R_IFB1136817584:0fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg06/24/1311/21/14144Genomicunknown
ss835966061ILLUMINA|HumanOmni2.5-8v1_A_kgp7756297-0_B_F_1801144584fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg09/18/1307/29/15142Genomicunknown
ss986620490EVA-GONL|EVA-GONL_rs7047865fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg04/23/1404/25/14142Genomicunknown
ss1076341751JMKIDD_LAB|HGDP_WGS_chr9_78665776fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg07/10/1407/11/14142Genomicunknown
ss13341096711000GENOMES|PHASE3_V1_46624396fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg08/16/1408/16/14142Genomicunknown
ss1397557353HAMMER_LAB|HAMMER_LAB_rs7047865fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg09/30/1409/30/14146Genomicunknown
ss1431857165DDI|DDI_rs7047865fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg11/04/1411/05/14144Genomicunknown
ss1583120152EVA_GENOME_DK|EVA_GENOME_DK_snv_rs7047865fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg02/19/1502/20/15144Genomicunknown
ss1596250518EVA_DECODE|EVA_DECODE_9_77855596_427142_rs7047865fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg03/02/1503/03/15144Genomicunknown
ss1622840117EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_9_78665776_25754246fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg03/04/1503/04/15144Genomicunknown
ss1665834150EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_9_78665776_25754246fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg03/04/1503/04/15144Genomicunknown
ss1713113059EVA_SVP|EVA_SVP_807426fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg03/12/1503/12/15144Genomicunknown
ss1806006839HAMMER_LAB|Hsieh_5023225fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg07/15/1507/16/15146Genomicunknown
ss1929935902WEILL_CORNELL_DGM|SNV:chr9:78665776fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg10/16/1510/17/15147Genomicunknown
ss1971227624GENOMED|rs7047865fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg02/16/1602/16/16147Genomicunknown
ss2025683338JJLAB|SNP6185893fwd/BG/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg08/29/1608/30/16149Genomicunknown
ss2153907991USC_VALOUEV|NC_000009.11:g.78665776T>Gfwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg11/17/1611/17/16150Genomicunknown
ss2311688390HUMAN_LONGEVITY|HLI-9-76050860-T-Gfwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg11/18/1611/18/16150Genomicunknown
ss2482064278TOPMED|9_78665776_T/Gfwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg11/20/1611/20/16150Genomicunknown
ss2627309039SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3928060fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg01/06/1701/06/17151Genomicunknown
ss2634872846ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp7756297-0_B_F_180114458fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg02/02/1702/02/17151Genomicunknown
ss2709772068GRF|rs7047865fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg02/13/1702/13/17151Genomicunknown
ss2879393571GNOMAD|rs7047865fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg05/19/1705/19/17151Genomicunknown
ss3005040150SWEGEN|NC_000009.11:g.78665776T>Gfwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg05/30/1705/30/17151Genomicunknown
ss3022933750ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs7047865-138_T_R_2264363634fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg06/28/1706/28/17151Genomicunknown
ss3026623009BIOINF_KMB_FNS_UNIBA|9.76050860T>Gfwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg07/05/1707/05/17151Genomicunknown
ss3348698824CSHL|rs7047865fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg10/02/1710/02/17151Genomicunknown
ss3591829951TOPMED|TOPMed_freeze_5?chr9:76,050,860fwd/G/Tctggtttatgtcttcaccaagagagccagcaatcccagaacaattttctg10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7047865|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 GAAAGAAATA GACCACAAAA ATCAAAATTA TAATTTGATA CAGGTCATTA TTTCTTTCAT
 TCTCTTTATA GATCTTTTCT AGTCTCTTAG CATATACACT CAGTATACAC TTCATATTTC
 ATGCATTACT GAGTTCTAAT TATAAAATTT TCTTTTAATT ATGATGATGT GAAATTATAG
 GAAAATCAGT TCAGGTGTAA GGAGGAGGAA GTTGCTTAGA TTGCATACTA CACATTTTCA
 CAAGCACCAA TCCCAAACCA GAACAACTGG AGCAGAAATT CTTATAACAC CTTGTACGTA
 AACCTTGATT AACTTGTACC ACAATACTTG GTGATTATTT GCATAAGTCT TGCAATGCCC
 CTGTCAGTGG TCTTAGGTTC CATTAATCAG TCAAATTCAT AGAACTCATT AGGCCACAGG
 AGGTAATTAT TCTATCCTTC TAGGATAGAA ACATAATGTG CTAATAGGGT AGTATCTGGT
 TTATGTCTTC ACCAAGAGAG
 K
 CCAGCAATCC CAGAACAATT TTCTGCTCCT CCCCTGTCTC ACTGCCTCCC AAGTGACACC
 ACAGTTGTAA AGAATGAGCC ATATGGTGGA GGGGGATATG ACAGTCATTT TACCTTAAAA
 GCCCCATGCT CATAAGAGCA ATATTTTTTG CAACAGCCTA TGAATATAAC TTCCAAAGCC
 CTGCAAAGAA GGCCACACTC CATTTCTAGG GGTCTAACCT CAGAAGCCCA ATGCTAAGAC
 TTCATCATTT ATCTGTAGTC CTGGTCACAG ATCTCCCAGT TCATGGTAAT TTACCAACCA
 GGGTTCATTT TTACTGTAAG CAGCATTGCT TAGTGTCTGA CATCTCACAT TTCTCAGATA
 TCAGGGAGAC CAGAGCTAGA AAGTTAAACC AAAGTAATTT TTCCAAACAT GAGGAAAAAA
 AGATTTTGTT AATCCTTTAC TCAGAATATT CCCCGCCAAG ACTGTGAGCA CCACACCACA
 GCCCTGCGTT ATTCAGCTTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023935 ABBA01033901
dbSNP Blast Analysis

  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.
SourceG/G
G/T
T/T
HWPG
T
ss115740026YRI 2IG 1.00000000 0.500000000.50000000
ss1334109671EAS 1008AF 0.620999990.37900001
EUR 1006AF 0.370800020.62920004
AFR 1322AF 0.740499970.25950000
AMR 694AF 0.482700020.51730001
SAS 978AF 0.674799980.32519999
ss143187058ENSEMBL_Venter 2IG1.00000000 1.00000000
ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss164227046CEUEuropean 2IG1.00000000 1.00000000
ss165200016YRISub-Saharan African 2IG1.00000000 1.00000000
ss166542453PGP 2IG 1.00000000 0.500000000.50000000
ss200461783BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss224273003pilot_1_YRI_low_coverage_panel 118AF 0.771186410.22881356
ss234837641pilot_1_CEU_low_coverage_panel 120AF 0.416666660.58333331
ss241608751pilot_1_CHB+JPT_low_coverage_panel 120AF 0.516666650.48333332
ss43875880HapMap-CEUEuropean 218IG0.155963300.477064220.366972481.000000000.394495430.60550457
HapMap-HCBAsian 86IG0.302325580.534883740.162790700.583882000.569767420.43023255
HapMap-JPTAsian 170IG0.258823540.541176500.200000000.438578000.529411790.47058824
HapMap-YRISub-Saharan African 220IG0.590909060.336363640.072727270.402784000.759090900.24090908
HAPMAP-ASW 98IG0.387755100.469387770.142857151.000000000.622448980.37755102
HAPMAP-CHBAsian 80IG0.474999990.400000010.125000000.583882000.675000010.32499999
HAPMAP-CHD 170IG0.258823540.635294140.105882350.010028000.576470610.42352942
HAPMAP-GIH 176IG0.500000000.454545470.045454550.200325000.727272750.27272728
HAPMAP-LWK 178IG0.629213510.325842710.044943821.000000000.792134820.20786516
HAPMAP-MEX 98IG0.224489790.428571430.346938790.371093000.438775510.56122446
HAPMAP-MKK 280IG0.521428590.378571420.100000000.371093000.710714280.28928572
HAPMAP-TSI 174IG0.126436780.494252860.379310340.654721000.373563230.62643677
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss97729963J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.482+/-0.0920000ALFRED: 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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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