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Reference SNP (refSNP) Cluster Report: rs138707146                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
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:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0002/24 (ExAC)
T=0.0006/3 (1000 Genomes)
T=0.0005/7 (GO-ESP)
T=0.0005/62 (TOPMED)
HGVS Names
  • CM000670.2:g.18400641C>T
  • NC_000008.10:g.18258151C>T
  • NC_000008.11:g.18400641C>T
  • NG_012246.1:g.14397C>T
  • NM_000015.2:c.638C>T
  • NP_000006.2:p.Pro213Leu
  • XP_016868427.1:p.Pro213Leu
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 ss342253615 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs138707146 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
ss342253615NHLBI-ESP|ESP2500-chr8-18258151byFreqfwd/BC/Tagtctatgaatacatacctgcagacgtctcaacatcttcatttataaccacatcattttg03/25/1109/05/14134Genomicunknown
ss491410767EXOME_CHIP|nonsyn_126993_chr_8_18258151fwd/BC/Tagtctatgaatacatacctgcagacgtctcaacatcttcatttataaccacatcattttg03/05/1203/05/12137Genomicunknown
ss780867831ILLUMINA|HumanOmni25Exome-8v1_A_exm685687-0_T_R_1922908774fwd/BC/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca05/30/1307/10/15146Genomicunknown
ss783552762ILLUMINA|HumanOmniExpressExome-8v1_A_exm685687-0_T_R_1922908774fwd/BC/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca05/31/1306/19/15146Genomicunknown
ss13288539181000GENOMES|PHASE3_V1_41165002fwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca08/16/1408/16/14142Genomicunknown
ss1689107906EVA_EXAC|EVA_EXAC_4197327fwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca03/04/1503/04/15144Genomicunknown
ss1752722193ILLUMINA|OmniExpressExome-8v1-1_B_exm685687-0_T_R_1922908774fwd/BC/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca05/27/1506/09/15146Genomicunknown
ss1917826211ILLUMINA|HumanExome-12v1-1_B_exm685687-0_T_R_1922908774fwd/BC/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca10/16/1510/16/15147Genomicunknown
ss1946231118ILLUMINA|HumanCoreExome-12v1-0_C_exm685687-0_T_R_1922908774fwd/BC/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca10/29/1510/29/15147Genomicunknown
ss1959092413ILLUMINA|exm685687-0_T_R_1922908774fwd/BC/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca11/13/1511/13/15147Genomicunknown
ss2301164566HUMAN_LONGEVITY|HLI-8-18400641-C-Tfwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca11/18/1611/18/16150Genomicunknown
ss2470822164TOPMED|8_18258151_C/Tfwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca11/20/1611/20/16150Genomicunknown
ss2737016747GNOMAD|exomes_rs138707146fwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca05/17/1705/17/17151Genomicunknown
ss2748005959GNOMAD|coding_rs138707146fwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca05/17/1705/17/17151Genomicunknown
ss2863932617GNOMAD|rs138707146fwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca05/19/1705/19/17151Genomicunknown
ss2985432620AFFY|Axiom_PsorMich_Affx-52287623fwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca05/24/1705/24/17151Genomicunknown
ss3022824460ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685687-0_T_R_1922908774fwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca06/28/1706/28/17151Genomicunknown
ss3555514779TOPMED|TOPMed_freeze_5?chr8:18,400,641fwd/C/Tatgaatacatacctgcagacgtctcaacatcttcatttataaccacatca10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs138707146|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CAGATGTGGC AGCCTCTAGA ATTAATTTCT GGGAAGGATC AGCCTCAGGT GCCTTGCATT
 TTCTGCTTGA CAGAAGAGAG AGGAATCTGG TACCTGGACC AAATCAGGAG AGAGCAGTAT
 ATTACAAACA AAGAATTTCT TAATTCTCAT CTCCTGCCAA AGAAGAAACA CCAAAAAATA
 TACTTATTTA CGCTTGAACC TCGAACAATT GAAGATTTTG AGTCTATGAA TACATACCTG
 CAGACGTCTC
 Y
 AACATCTTCA TTTATAACCA CATCATTTTG TTCCTTGCAG ACCCCAGAAG GGGTTTACTG
 TTTGGTGGGC TTCATCCTCA CCTATAGAAA ATTCAATTAT AAAGACAATA CAGATCTGGT
 CGAGTTTAAA ACTCTCACTG AGGAAGAGGT TGAAGAAGTG CTGAGAAATA TATTTAAGAT
 TTCCTTGGGG AGAAATCTCG TGCCCAAACC TGGTGATGGA TCCCTTACTA TTTAGAATAA
 GGAACAAAAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008
dbSNP Blast Analysis
3D structure mapping
NP_000006  

  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
ss1328853918EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.997699980.00230000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1689107906ExAc_Aggregated_Populations121408AF 0.999802290.00019768
ss342253615ESP_Cohort_Populations 4440GF0.998648640.00135135 1.000000000.999324320.00067568

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0140000

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

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