NCBI
dbSNP
Attention: This page will be retired!
This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained.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.
Spacer gif

Spacer gif
Reference SNP (refSNP) Cluster Report: rs71651692                 ** With Likely benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely benign allele [ClinVar]
MAF/MinorAlleleCount:T=0.0008/98 (ExAC)
T=0.0002/1 (1000 Genomes)
T=0.0006/8 (GO-ESP)
T=0.0006/72 (TOPMED)
HGVS Names
  • CM000663.2:g.154569474C>A
  • CM000663.2:g.154569474C>T
  • NC_000001.10:g.154541950C>T
  • NC_000001.11:g.154569474C>A
  • NC_000001.11:g.154569474C>T
  • NG_008027.1:g.6694C>A
  • NG_008027.1:g.6694C>T
  • NM_000748.2:c.77C>A
  • NM_000748.2:c.77C>T
  • NP_000739.1:p.Thr26Lys
  • NP_000739.1:p.Thr26Met
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 ss99307538 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs71651692 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
ss99307538SHGC|2932fwd/BC/Ttgcctttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggagcatct04/17/0804/17/08130Genomicunknown
ss141045453RWHITE|CHRNB2_5825fwd/BC/Ttgcctttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggagcatct05/22/0905/22/09131Genomicunknown
ss161151680PERLEGEN|IVD00719714fwd/BC/Ttgcctttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggagcatct09/11/0909/11/09131Genomicunknown
ss341996688NHLBI-ESP|ESP2500-chr1-154541950byFreqfwd/BC/Ttgcctttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggagcatct03/25/1109/05/14134Genomicunknown
ss491235419GSK-GENETICS|chr1_152808574fwd/BC/Ttgcctttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggagcatct03/02/1203/02/12137Genomicunknown
ss491302328EXOME_CHIP|nonsyn_18555_chr_1_154541950fwd/BC/Ttgcctttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggagcatct03/05/1203/05/12137Genomicunknown
ss491605068CLINSEQ_SNP|SNV-chr1-152808574fwd/BC/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag03/06/1203/12/12137Genomicunknown
ss780693649ILLUMINA|HumanOmni25Exome-8v1_A_exm104520-0_T_R_1921582192fwd/BC/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag05/30/1307/09/15146Genomicunknown
ss783367515ILLUMINA|HumanOmniExpressExome-8v1_A_exm104520-0_T_R_1921582192fwd/BC/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag05/31/1306/18/15146Genomicunknown
ss975682531EVA-GONL|EVA-GONL_rs71651692fwd/BC/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag04/23/1404/23/14142Genomicunknown
ss12929253341000GENOMES|PHASE3_V1_3735901fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag08/16/1408/16/14142Genomicunknown
ss1601213834EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_154541950_2021058fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag03/04/1503/04/15144Genomicunknown
ss1644207867EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_154541950_2021058fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag03/04/1503/04/15144Genomicunknown
ss1685805517EVA_EXAC|EVA_EXAC_634309fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag03/04/1503/04/15144Genomicunknown
ss1751872195ILLUMINA|OmniExpressExome-8v1-1_B_exm104520-0_T_R_1921582192fwd/BC/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag05/27/1506/09/15146Genomicunknown
ss1917735339ILLUMINA|HumanExome-12v1-1_B_exm104520-0_T_R_1921582192fwd/BC/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag10/16/1510/16/15147Genomicunknown
ss1946009534ILLUMINA|HumanCoreExome-12v1-0_C_exm104520-0_T_R_1921582192fwd/BC/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag10/29/1510/29/15147Genomicunknown
ss1958317555ILLUMINA|exm104520-0_T_R_1921582192fwd/BC/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag11/13/1511/13/15147Genomicunknown
ss2166540600HUMAN_LONGEVITY|HLI-1-154569474-C-Tfwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag11/18/1611/18/16150Genomicunknown
ss2731892845GNOMAD|exomes_rs71651692fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag05/17/1705/17/17151Genomicunknown
ss2746450826GNOMAD|coding_rs71651692fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag05/17/1705/17/17151Genomicunknown
ss2761315150GNOMAD|rs71651692fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag05/17/1705/17/17151Genomicunknown
ss2984879298AFFY|Axiom_PsorMich_Affx-5391220fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag05/24/1705/24/17151Genomicunknown
ss2985525048AFFY|Axiom_Smokesc1_Affx-5391220fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag05/24/1705/24/17151Genomicunknown
ss2987752025SWEGEN|NC_000001.10:g.154541950C>Tfwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag05/30/1705/30/17151Genomicunknown
ss3021136251ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm104520-0_T_R_1921582192fwd/C/Tttcccctgcccaggggtgtggggtaggatacagaggagcggctggtggag06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs71651692|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 CTTTGGGGGA AGAGCAGGTC TCCATGAATC CTTGCAGAGT GGGTTCTTAG TCTCAAGTCA
 TCTCTGTGGA GCTGTGTAGA CTCTTTGGTC AGTGGTCTCA GAGAGGGGCT TTTCTATGAA
 GACATTAATC TGGGGCCTCC CTGGGGTTAA TCTAAGCATT TTGCAGTATC CTTAGGGATG
 TAGGGAGATA CTGGTTGGGC CTGGATTGTC CCATTTGCCT GGGGAGGGTG GGATGCTGGG
 TGGGCTCTCC TTGCCTGCTT ACTTTCGTCC TGCCTTTCCC CTGCCCAGGG GTGTGGGGTA
 H
 GGATACAGAG GAGCGGCTGG TGGAGCATCT CNTGGATCCT TCCCGCTACA ACAAGCTTAT
 CCGCCCAGCC ACCAATGGCT CTGAGCTGGT GACAGTACAG CTTATGGTGT CACTGGCCCA
 GCTCATCAGT GTGGTGAGTA GAGGTCCCAG GCTCTCTGCC CAGCTACTGA AATCAGCCCC
 GCCAAAATGT GTTAATGCTT GTGTGCTTCC TCCCCTGGTG TTTCCAAGGC TTGGGGAGGT
 GTGAGAGGGA CCCTGGGTGG TGGCANTGAC CCCACAGGCT TAGGGGCCTT CTCGGCAGCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NM_000748.1
dbSNP Blast Analysis
3D structure mapping
NP_000739  

  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
ss1292925334EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 0.998999950.00100000
ss161151680PGI_05_PANEL 858GF0.997668980.00233100 1.000000000.998834490.00116550
ss1685805517ExAc_Aggregated_Populations121412AF 0.999184610.00081541
ss341996688ESP_Cohort_Populations 4540GF0.999118920.00088106 1.000000000.999559460.00044053
ss491605068CSAgilent 1289GF0.996999980.00300000 1.000000000.998499990.00150000
ss99307538P24 48AF 0.980000020.02000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.002+/-0.0280000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN