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Reference SNP (refSNP) Cluster Report: rs146619916                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
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:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0001/16 (ExAC)
C=0.0002/2 (GO-ESP)
C=0.0001/14 (TOPMED)
HGVS Names
  • CM000672.2:g.93076616T>C
  • NC_000010.10:g.94836373T>C
  • NC_000010.11:g.93076616T>C
  • NG_008067.1:g.8142T>C
  • NM_000783.3:c.1072T>C
  • NM_057157.2:c.865T>C
  • NP_000774.2:p.Cys358Arg
  • NP_476498.1:p.Cys289Arg
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 ss342303782 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs146619916 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
ss342303782NHLBI-ESP|ESP2500-chr10-94836373fwd/BC/Tgaaattttggaacaacttaaatacatcggggtgttattaaggagacccttcgactgaatc03/25/1103/26/11134Genomicunknown
ss491438322EXOME_CHIP|nonsyn_154548_chr_10_94836373fwd/BC/Tgaaattttggaacaacttaaatacatcggggtgttattaaggagacccttcgactgaatc03/05/1203/05/12137Genomicunknown
ss491629485CLINSEQ_SNP|SNV-chr10-94826363fwd/BC/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact03/06/1203/12/12137Genomicunknown
ss780888770ILLUMINA|HumanOmni25Exome-8v1_A_exm842420-0_T_R_1920967013fwd/BC/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact05/30/1307/10/15146Genomicunknown
ss783575007ILLUMINA|HumanOmniExpressExome-8v1_A_exm842420-0_T_R_1920967013fwd/BC/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact05/31/1306/18/15146Genomicunknown
ss1690002468EVA_EXAC|EVA_EXAC_5160665fwd/C/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact03/04/1503/04/15144Genomicunknown
ss1751987490ILLUMINA|OmniExpressExome-8v1-1_B_exm842420-0_T_R_1920967013fwd/BC/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact05/27/1506/09/15146Genomicunknown
ss1917849564ILLUMINA|HumanExome-12v1-1_B_exm842420-0_T_R_1920967013fwd/BC/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact10/16/1510/16/15147Genomicunknown
ss1946289279ILLUMINA|HumanCoreExome-12v1-0_C_exm842420-0_T_R_1920967013fwd/BC/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact10/29/1510/29/15147Genomicunknown
ss1959283797ILLUMINA|exm842420-0_T_R_1920967013fwd/BC/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact11/13/1511/13/15147Genomicunknown
ss2177052210HUMAN_LONGEVITY|HLI-10-93076616-T-Cfwd/C/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact11/18/1611/18/16150Genomicunknown
ss2738406570GNOMAD|exomes_rs146619916fwd/C/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact05/17/1705/17/17151Genomicunknown
ss2748437499GNOMAD|coding_rs146619916fwd/C/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact05/17/1705/17/17151Genomicunknown
ss2891997274GNOMAD|rs146619916fwd/C/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact05/19/1705/19/17151Genomicunknown
ss2984919515AFFY|Axiom_PsorMich_Affx-52134967fwd/C/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact05/24/1705/24/17151Genomicunknown
ss3021263694ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm842420-0_T_R_1920967013fwd/C/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact06/28/1706/28/17151Genomicunknown
ss3127216879TOPMED|TOPMed_freeze_5?chr10:93,076,616fwd/C/Ttttggaacaacttaaatacatcggggtgttattaaggagacccttcgact09/29/1709/29/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs146619916|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GTAAATAGAT AGTGGATTTG GGCAGGCAAA TGGCCATTAG CTGCTGTTTC CCCCTCCCAG
 TCTCTCCCAT CATGGGGCCC TTTGGGTTTA GTCTCCACTT AAGCCCTGTT TACGTCTGCT
 GGGCTGATTT TATTGGAGCA CAAAATAACT GTTCACCTCT GTATGACTGT TTTGATAGGG
 TTTACTTTGC AAGAGCAATC AAGACAACAA GTTGGACATG GAAATTTTGG AACAACTTAA
 ATACATCGGG
 Y
 GTGTTATTAA GGAGACCCTT CGACTGAATC CCCCAGTTCC AGGAGGGTTT CGGGTTGCTC
 TGAAGACTTT TGAATTAAAT GTAAGTTAAA ATTCTCTTCT TTCTCCCTTT TGTTGTGGTT
 TAAAAACTCC TCTTTCTTCC CTATGCTGTG GCTGCAATTC TTATGCTTTT GATAATTGTT
 CTGCCCTATA TGGAGATATG TTTCAGCAAC CTGGATCCAC CTCTCTCTTT CTACCTCTCC
 CTTGCTTTTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000010
dbSNP Blast Analysis
3D structure mapping
NP_000774  NP_476498  

  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
ss1690002468ExAc_Aggregated_Populations121412AF 0.000131780.99986821
ss342303782ESP_Cohort_Populations 4550GF 0.000439560.999560421.000000000.000219780.99978024
ss491629485CSAgilent 1323GF 0.002000000.998000031.000000000.001000000.99900001

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0110000

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

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