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Reference SNP (refSNP) Cluster Report: rs371443644                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:138/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:T=0.00007/9 (ExAC)
T=0.00006/7 (TOPMED)
HGVS Names
  • CM000678.2:g.56865414C>T
  • NC_000016.10:g.56865414C>T
  • NC_000016.9:g.56899326C>T
  • NG_009386.1:g.5208C>T
  • NM_000339.2:c.179C>T
  • NM_001126107.1:c.179C>T
  • NM_001126108.1:c.179C>T
  • NP_000330.2:p.Thr60Met
  • NP_001119579.1:p.Thr60Met
  • NP_001119580.1:p.Thr60Met
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 ss1399966755 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs371443644 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
ss660695544SSMP|16_56899326fwd/BC/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag12/14/1202/14/15138Genomicunknown
ss1399966755OMIM-CURATED-RECORDS|SCV000120641fwd/BC/Tccttctgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgagcacta10/14/1407/27/16147Genomicunknown
ss1692312186EVA_EXAC|EXAC_0.3.16:g56899326c>tfwd/C/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag03/04/1503/04/15144Genomicunknown
ss2212440017HUMAN_LONGEVITY|HLI-16-56865414-C-Tfwd/C/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag11/18/1611/18/16150Genomicunknown
ss2742000594GNOMAD|exomes_rs371443644fwd/C/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag05/17/1705/17/17151Genomicunknown
ss2749547679GNOMAD|coding_rs371443644fwd/C/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag05/17/1705/17/17151Genomicunknown
ss2943405936GNOMAD|rs371443644fwd/C/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag05/23/1705/23/17151Genomicunknown
ss2985069603AFFY|Axiom_PsorMich_Affx-80253965fwd/C/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag05/24/1705/24/17151Genomicunknown
ss2985705550AFFY|Axiom_Smokesc1_Affx-80253965fwd/C/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag05/24/1705/24/17151Genomicunknown
ss3021709492ILLUMINA|MEGA_Consortium_v2_15070954_A2_16:56899326-C-T-0_T_R_2304267016fwd/C/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag06/28/1706/28/17151Genomicunknown
ss3247430512TOPMED|TOPMed_freeze_5?chr16:56,865,414fwd/C/Ttgcatgcgcacctttggctacaacagatcgatgtggtgcccacatatgag10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs371443644|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CCACCTGACC CACAGCAGCA CCTTCTGCAT GCGCACCTTT GGCTACAACA
 Y
 GATCGATGTG GTGCCCACAT ATGAGCACTA TGCCAACAGC ACCCAGCCTG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
263800

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1692312186ExAc_Aggregated_Populations121410AF 0.999925850.00007413

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0090000

  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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