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Reference SNP (refSNP) Cluster Report: rs78682427                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.00009/11 (ExAC)
T=0.0002/2 (GO-ESP)
T=0.0001/14 (TOPMED)
HGVS Names
  • CM000670.2:g.42736490C>T
  • NC_000008.10:g.42591633C>T
  • NC_000008.11:g.42736490C>T
  • NM_000749.3:c.1249C>T
  • NM_000749.4:c.1249C>T
  • NM_001347717.1:c.1027C>T
  • NP_000740.1:p.Gln417Ter
  • NP_001334646.1:p.Gln343Ter
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 ss491413092 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs78682427 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
ss161151691PERLEGEN|IVD00719911fwd/BC/Taaggcatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagttcttg09/11/0909/11/09131Genomicunknown
ss491413092EXOME_CHIP|stopgl_129318_chr_8_42591633fwd/BC/Taaggcatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagttcttg03/05/1203/05/12137Genomicunknown
ss491924637CLINSEQ_SNP|SNV-chr8-42710790fwd/BC/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt03/06/1203/13/12137Genomicunknown
ss507877749GOLDSTEINLAB|8_42710790_Tfwd/BC/Taaggcatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagttcttg04/06/1204/06/12137Genomicunknown
ss712842203NHLBI-ESP|ESP6500SI-chr8-42591633fwd/BC/Taaggcatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagttcttg02/20/1302/20/13138Genomicunknown
ss780869697ILLUMINA|HumanOmni25Exome-8v1_A_exm698966-0_T_R_1922988348fwd/BC/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt05/30/1307/10/15146Genomicunknown
ss783554727ILLUMINA|HumanOmniExpressExome-8v1_A_exm698966-0_T_R_1922988348fwd/BC/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt05/31/1306/19/15146Genomicunknown
ss1620494849EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_42591633_23192527fwd/C/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt03/04/1503/04/15144Genomicunknown
ss1663488882EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_42591633_23192527fwd/C/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt03/04/1503/04/15144Genomicunknown
ss1689184789EVA_EXAC|EVA_EXAC_4279940fwd/C/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt03/04/1503/04/15144Genomicunknown
ss1752732684ILLUMINA|OmniExpressExome-8v1-1_B_exm698966-0_T_R_1922988348fwd/BC/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt05/27/1506/09/15146Genomicunknown
ss1917828274ILLUMINA|HumanExome-12v1-1_B_exm698966-0_T_R_1922988348fwd/BC/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt10/16/1510/16/15147Genomicunknown
ss1946235867ILLUMINA|HumanCoreExome-12v1-0_C_exm698966-0_T_R_1922988348fwd/BC/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt10/29/1510/29/15147Genomicunknown
ss1946235868ILLUMINA|HumanCoreExome-12v1-0_C_newrs78682427-1_B_F_2113438018fwd/BC/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt10/29/1510/29/15147Genomicunknown
ss1959106940ILLUMINA|exm698966-0_T_R_1922988348fwd/BC/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt11/13/1511/13/15147Genomicunknown
ss1959106941ILLUMINA|newrs78682427-1_B_F_2113438018fwd/BC/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt11/13/1511/13/15147Genomicunknown
ss2302697927HUMAN_LONGEVITY|HLI-8-42736490-C-Tfwd/C/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt11/18/1611/18/16150Genomicunknown
ss2737136644GNOMAD|exomes_rs78682427fwd/C/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt05/17/1705/17/17151Genomicunknown
ss2748042536GNOMAD|coding_rs78682427fwd/C/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt05/17/1705/17/17151Genomicunknown
ss2865989275GNOMAD|rs78682427fwd/C/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt05/19/1705/19/17151Genomicunknown
ss2986081537AFFY|Axiom_Smokesc1_Affx-52289322fwd/C/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt05/24/1705/24/17151Genomicunknown
ss3022841323ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm698966-0_T_R_1922988348fwd/C/Tatctttttctcttttgcaggtagtaaagactggaaatttgtagctcaagt06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs78682427|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GCTGCTTCTT TTGGGCACAA TTAGCGAAGT CCCTGAAAGA ACCTGAGCCT GTAGTGTGGT
 TGGGACATTA GATGCATTTT GAAAACTTAA GTAAATGCTA TAAATCTGAA TGTTACTCTT
 TTTTAATCCC TTGAGATGAA TACAGAACAG TTGCTCAGTG TCTTGAGTGA AAGGCATCTT
 TTTCTCTTTT GCAGGTAGTA
 Y
 AAGACTGGAA ATTTGTAGCT CAAGTTCTTG ACCGAATCTT CCTGTGGCTC TTTCTGATAG
 TGTCAGTAAC AGGCTCGGTT CTGATTTTTA CCCCTGCTTT GAAGATGTGG CTACATAGTT
 ACCATTAGGA ATTTAAAAGA CATAAGACTA AATTACACCT TAGACCTGAC ATCTGGCTAT
 CACACAGACA GAATCCAAAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008.9
dbSNP Blast Analysis
3D structure mapping
NP_000740  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss161151691PGI_05_PANEL 858GF0.997668980.00233100 1.000000000.998834490.00116550
ss1689184789ExAc_Aggregated_Populations121410AF 0.999909400.00009060
ss491924637CSAgilent 1323GF0.998000030.00200000 1.000000000.999000010.00100000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0100000

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