NCBI
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained.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: rs34382179                 ** With Likely benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely benign allele [ClinVar]
MAF/MinorAlleleCount:C=0.0064/32 (1000 Genomes)
C=0.0076/949 (TOPMED)
HGVS Names
  • CM000672.2:g.87926326T>C
  • NC_000010.10:g.89686083T>C
  • NC_000010.11:g.87926326T>C
  • NG_007466.2:g.67888T>C
  • NM_000314.4:c.209+769T>C
  • NM_000314.6:c.209+769T>C
  • NM_001304717.2:c.728+769T>C
  • NM_001304718.1:c.-541-4720T>C
  • NW_013171807.1:g.142118T>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 ss38349766 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs34382179 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
ss38349766EGP_SNPS|PTEN-064823fwd/BC/Tggaaaaatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagtactgag07/07/0507/07/05126Genomicunknown
ss3362892601000GENOMES|20100804_snps_7932801_chr10_89686083fwd/C/Tggaaaaatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagtactgag03/22/1103/22/11134Genomicunknown
ss562115162TISHKOFF|snp_chr10_89686083fwd/BC/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta11/22/1211/23/12138Genomicunknown
ss13384386881000GENOMES|PHASE3_V1_51133393fwd/C/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta08/16/1408/16/14142Genomicunknown
ss1625094254EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_89686083_28233300fwd/C/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta03/04/1503/04/15144Genomicunknown
ss1668088287EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_89686083_28233300fwd/C/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta03/04/1503/04/15144Genomicunknown
ss1806500712HAMMER_LAB|Hsieh_5519163fwd/BC/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta07/15/1507/16/15146Genomicunknown
ss1931122653WEILL_CORNELL_DGM|SNV:chr10:89686083fwd/BC/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta10/16/1510/17/15147Genomicunknown
ss2176766599HUMAN_LONGEVITY|HLI-10-87926326-T-Cfwd/C/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta11/18/1611/18/16150Genomicunknown
ss2339870044TOPMED|10_89686083_T/Cfwd/C/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta11/19/1611/19/16150Genomicunknown
ss2891605580GNOMAD|rs34382179fwd/C/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta05/19/1705/19/17151Genomicunknown
ss3126315678TOPMED|TOPMed_freeze_5?chr10:87,926,326fwd/C/Taatttatctgtaatttagtgatcttctagtgtgataaaacgtcagaagta09/29/1709/29/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs34382179|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TGACCTTATC TTTAACTTTT TGTTTTTCTT TTGACTTTGG GAGTAGAGAT GTGAAAAGGT
 AAAAAGGAAG GAAGGAAGAG AAAACTTAAC TCTTTTTGCC CATGAAGACT GTTTTTCCTT
 CTCAAAATAT TGACTATTTT CTGATTTGTA AAAATCGGCA CATAAAACGT GTTATTTTTT
 ACTTGACTTT TATCTTTCCC ATGTGATATC TATAAATTAT AGATAGGAAA AATTTATCTG
 TAATTTAGTG ATCTT
 Y
 CTAGTGTGAT AAAACGTCAG AAGTACTGAG AGTGGAGTGG ACATTGATAT TGTTACTCTC
 AGTAAGTTTT CACTGATTTT TCTCAGAGTC ATGAAGGAAC AAACGTTTGT TAAGTCCTTA
 TCACTTATTA GATAACACAA AACATGTTGG GGGGGTGTGT ACAGAGGTGA GTAAGATGTA
 GCTCCCATTC TCAAGTCGCT TACATTCTAA TGTAAAAGGT AGACAAAGCA TTACAGAAGA
 AGTAACTCTG CTATA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000010
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/T
T/T
HWPC
T
ss1338438688EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.024200000.97579998
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss38349766EGP_YORUB-PANELSub-Saharan African 22IG0.090909090.909090941.000000000.045454550.95454544
EGP_HISP-PANELHispanic 44IG 1.00000000 1.00000000
EGP_CEPH-PANELEuropean 44IG 1.00000000 1.00000000
EGP_AD-PANELAfrican American 30IG 1.00000000 1.00000000
EGP_ASIAN-PANELAsian 48IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.013+/-0.0790000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES