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dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs9286791                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
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=0.3454/1730 (1000 Genomes)
C=0.3499/43941 (TOPMED)
HGVS Names
  • CM000663.2:g.3816902C>G
  • CM000663.2:g.3816902C>T
  • NC_000001.10:g.3733466C>T
  • NC_000001.11:g.3816902C>G
  • NC_000001.11:g.3816902C>T
  • NG_046726.1:g.45332G>A
  • NG_046726.1:g.45332G>C
  • NM_014704.3:c.2572-532G>A
  • NM_014704.3:c.2572-532G>C
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 ss275691461 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9286791 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
ss12992574SC_SNP|NT_004321.15_1040240fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac10/22/0310/31/03119Genomicunknown
ss13757760BCM_SSAHASNP|chr1.NT_004321.15_1040240byFreqfwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac11/05/0310/25/06119Genomicunknown
ss17360787CSHL-HAPMAP|CSHL-HuCC-200402.chr1.NT_004321.15_1040240fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac02/19/0403/04/04120Genomicunknown
ss19135319CSHL-HAPMAP|CSHL-HuDD-200402.chr1.NT_004321.15_1040240fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac02/20/0403/04/04120Genomicunknown
ss20557202SSAHASNP|WGSA-200403-chr1.chr1.NT_004321.15_1040240fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac03/18/0403/18/04121Genomicunknown
ss24243565PERLEGEN|afd0981461byFreqfwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac08/10/0409/13/04123Genomicunknown
ss41163254ABI|hCV30392701fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac07/16/0507/17/05126Genomicunknown
ss85623391HGSV|Cor19129_SNV_20070510.chr1_3756623fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac12/06/0712/09/07130Genomicunknown
ss87174407BCMHGSC_JDW|JWB-0002813fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac02/26/0802/26/08129Genomicunknown
ss97915489HUMANGENOME_JCVI|1103675006478fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac03/30/0803/30/08130Genomicunknown
ss105114936BGI|BGI_rs9286791fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac08/06/0806/16/09131Genomicunknown
ss1079490431000GENOMES|CEU.trio.12.15.2008_3324_chr1_3723326fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac12/15/0812/15/08130Genomicunknown
ss1099674961000GENOMES|NA19240_2008_12_16_3741_chr1_3723326fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac12/17/0812/17/08130Genomicunknown
ss137763585ENSEMBL|ENSSNP11476292fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac05/15/0905/16/09131Genomicunknown
ss138971473ENSEMBL|ENSSNP215299fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac12/08/0810/16/09131Genomicunknown
ss163004864COMPLETE_GENOMICS|NA19240_36_chr1_3723326fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac09/29/0909/29/09132Genomicunknown
ss163738141COMPLETE_GENOMICS|NA07022_36_chr1_3723326fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac09/28/0909/29/09132Genomicunknown
ss197925081BUSHMAN|BUSHMAN-chr1-3723325fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac02/16/1003/05/10132Genomicunknown
ss205188558BCM-HGSC-SUB|BCM_CMT_1011-74279fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac03/15/1003/15/10132Genomicunknown
ss2182032781000GENOMES|pilot_1_YRI_12961_chr1_3723326fwd/C/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac04/22/1004/22/10132Genomicunknown
ss2304041631000GENOMES|pilot_1_CEU_8792_chr1_3723326fwd/C/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac05/01/1005/01/10132Genomicunknown
ss2381230441000GENOMES|pilot_1_CHB+JPT_8121_chr1_3723326fwd/C/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac05/01/1005/01/10132Genomicunknown
ss252880422BL|SNP4509_1_3723326fwd/BC/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac08/18/1008/18/10134Genomicunknown
ss275691461GMI|GMI_AK_SNP_11622fwd/C/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac12/16/1012/16/10137Genomicunknown
ss290498325PJP|SNP_4683_chr1_3723326fwd/C/Tactgcctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatggggac01/21/1101/21/11134Genomicunknown
ss553734710TISHKOFF|snp_chr1_3733466fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg11/22/1211/22/12138Genomicunknown
ss647536499SSMP|1_3733466fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg12/14/1202/09/15138Genomicunknown
ss974796497EVA-GONL|EVA-GONL_rs9286791fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg04/23/1404/23/14142Genomicunknown
ss1067627326JMKIDD_LAB|HGDP_WGS_chr1_3733466fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg07/10/1407/10/14142Genomicunknown
ss12894518341000GENOMES|PHASE3_V1_120577fwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg08/16/1408/16/14142Genomicunknown
ss1425693024DDI|DDI_rs9286791fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg11/04/1411/04/14144Genomicunknown
ss1573860157EVA_GENOME_DK|EVA_GENOME_DK_snv_rs9286791fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg02/19/1502/19/15144Genomicunknown
ss1584155277EVA_DECODE|EVA_DECODE_1_3723326_26016_rs9286791fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg03/02/1503/02/15144Genomicunknown
ss1599427443EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_3733466_53688fwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg03/04/1503/04/15144Genomicunknown
ss1642421476EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_3733466_53688fwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg03/04/1503/04/15144Genomicunknown
ss1793785143HAMMER_LAB|Hsieh_12159fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg07/15/1507/15/15146Genomicunknown
ss1917992031WEILL_CORNELL_DGM|SNV:chr1:3733466fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg10/16/1510/16/15147Genomicunknown
ss1966671387GENOMED|rs9286791fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg02/16/1602/16/16147Genomicunknown
ss2019512168JJLAB|SNP14723fwd/BC/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg08/29/1608/30/16149Genomicunknown
ss2147502547USC_VALOUEV|NC_000001.10:g.3733466C>Tfwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg11/17/1611/17/16150Genomicunknown
ss2159574951HUMAN_LONGEVITY|HLI-1-3816902-C-Tfwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg11/18/1611/18/16150Genomicunknown
ss2624271842SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV9145fwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg01/06/1701/06/17151Genomicunknown
ss2697396580GRF|rs9286791fwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg02/13/1702/13/17151Genomicunknown
ss2750972730GNOMAD|rs9286791fwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg05/17/1705/17/17151Genomicunknown
ss2986201387SWEGEN|NC_000001.10:g.3733466C>Tfwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg05/30/1705/30/17151Genomicunknown
ss3023519705BIOINF_KMB_FNS_UNIBA|1.3816902C>Tfwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg07/05/1707/05/17151Genomicunknown
ss3343288970CSHL|rs9286791fwd/C/Tctgggcagccagcttctttcctttagaccagctgtgggaccgtctgcatg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9286791|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 CAGGCGAGAC GGACCTGGCA CGCTACCTGA GACCCAAAAG GACTCGCTGT GTAAGCTGAA
 AACGAGGGCG GCCGCTCCAG CAAGAGCCGC AGAAGAACGG CTCCCTCACC TGGGCACCTC
 CCTTCGGATA TGTTATGATA GCCTCTGCAG TCTGTGCAGG GTACAACTCA GGAAGCAAGA
 AGTCCTGTCA CCAGGCAAGC CTGCATCTCG CATCCCCACC CAGCCACACA GGGCCCTTGG
 TGTCAGTGAC TCTGAGCACA GCAGAGCGTG CACGCAAATG CAAGGGTGAG AAGCAGAGCG
 CCCGCGTGAT TACGTTCCAG GCCAGAAGAC AGAACGCGCC AGGCACCGCG GGCTCCCCGC
 CAGCCTGCTG CCCACGGTTC CTCGTGGGGT TCCCACTCTC TTCATCCCTG CTCTTCCTGA
 GCCACGCCAC ATGCACTTGC CCTGCAGAAT GTGGGGCTTA TGCAGGCCTG ACTGCCTGGG
 CAGCCAGCTT CTTTCCTTTA
 B
 GACCAGCTGT GGGACCGTCT GCATGGGGAC AGGGAGCTCA TCTCGTCCTC CTGTTGGATA
 TAAACGCGGG ATCGCTGGTT CCCTGAGTCT TCTGGACATT CGAGTTGTTC CTGGTTCCTT
 CCCTTCTATT TAAACAACAC TCACGAGGCT GGGCGCGGTG GCTCACGCCT GTAATCCCAA
 CACTTTGGGA GGCAGAGGTG GGTGGATCAC CTGAGGTCAG GATTTTGAGA CCAGCCTGGC
 CAGCTTGGTG AAACCCCGTC TCTACTAAAA ACACAAAATT AGCTGGGTGT GGTGGCGCAT
 CTCGTGTCCC CAACAGCTAA TCCCAGCTAC TCAGGAGGCT GAGGCAGGAG AATTGCTTGA
 ACGTGAGAGG CGGAGGTTGC AGTGAGCCGA GATCACATCA GTGCACTCCA GCCCGGGCAA
 CAGGGTGAGA CTCCATCTCA AAAACAAACA ACGCTTCCCA GGGACACTGC TCCAGCCGCT
 CTCCCATTCT CTGGTGGACC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004321 ABBA01073650
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.
SourceC/C
C/T
T/T
HWPC
T
ss1289451834EAS 1008AF 0.426599980.57339996
EUR 1006AF 0.458299990.54170001
AFR 1322AF 0.091500000.90850002
AMR 694AF 0.540300010.45969999
SAS 978AF 0.350699990.64929998
ss13757760HapMap-CEUEuropean 108IG0.203703700.481481490.314814811.000000000.444444450.55555558
HapMap-HCBAsian 82IG0.219512190.414634140.365853670.342782000.426829280.57317072
HapMap-JPTAsian 86IG0.279069780.441860470.279069780.479500000.500000000.50000000
HapMap-YRISub-Saharan African 106IG 0.075471700.924528301.000000000.037735850.96226418
ss137763585ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss138971473ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 4IG 1.00000000 1.00000000
ss163004864YRISub-Saharan African 2IG 1.00000000 1.00000000
ss163738141CEUEuropean 2IG 1.00000000 1.00000000
ss218203278pilot_1_YRI_low_coverage_panel 118AF 0.059322030.94067794
ss230404163pilot_1_CEU_low_coverage_panel 120AF 0.483333320.51666665
ss238123044pilot_1_CHB+JPT_low_coverage_panel 120AF 0.474999990.52499998
ss24243565AFD_EUR_PANELEuropean 48IG0.208333330.541666690.250000000.751830000.479166660.52083331
AFD_AFR_PANELAfrican American 42IG 0.190476190.809523821.000000000.095238100.90476191
AFD_CHN_PANELAsian 48IG0.083333340.708333310.208333330.050043000.437500000.56250000
ss97915489J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.452+/-0.1470000

  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