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Reference SNP (refSNP) Cluster Report: rs199476103                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:136/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:A:germline
G:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:C=0.0005/5 (ExAC)
C=0.0014/174 (TOPMED)
HGVS Names
  • CM000671.2:g.35657948T>C
  • NC_000009.11:g.35657945T>C
  • NC_000009.12:g.35657948T>C
  • NG_017041.1:g.5071A>G
  • NG_033120.1:g.4659T>C
  • NM_001195200.1:c.-432T>C
  • NM_001195201.1:c.-432T>C
  • NM_001195217.1:c.-432T>C
  • NM_174923.2:c.-432T>C
  • NR_003051.3:n.71A>G
  • XR_242498.1:n.-334T>C
  • XR_929218.2:n.-334T>C
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 ss509667281 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs199476103 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
ss509667281GENEREVIEWS|NG_017041.1:g.5071A>Gfwd/TA/Ggactctgttcctcccctttccgcctaggggaagtccccggacctcgggcagagagtgcca04/10/1204/10/12136Genomicunknown
ss986526491EVA-GONL|EVA-GONL_rs199476103rev/BC/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca04/23/1404/25/14142Genomicunknown
ss1596164696EVA_DECODE|EVA_DECODE_9_35647945_341317_rs199476103rev/BC/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca03/02/1503/03/15144Genomicunknown
ss1622678908EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_9_35657945_25573504rev/C/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca03/04/1503/04/15144Genomicunknown
ss1665672941EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_9_35657945_25573504rev/C/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca03/04/1503/04/15144Genomicunknown
ss1689475993EVA_EXAC|EXAC_0.3.9:g35657945t>crev/C/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca03/04/1503/04/15144Genomicunknown
ss2311071187HUMAN_LONGEVITY|HLI-9-35657948-T-Crev/C/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca11/18/1611/18/16150Genomicunknown
ss2481209634TOPMED|9_35657945_T/Crev/C/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca11/20/1611/20/16150Genomicunknown
ss2748180206GNOMAD|coding_rs199476103rev/C/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca05/17/1705/17/17151Genomicunknown
ss2877732781GNOMAD|rs199476103rev/C/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca05/19/1705/19/17151Genomicunknown
ss3004710777SWEGEN|NC_000009.11:g.35657945T>Crev/C/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca05/30/1705/30/17151Genomicunknown
ss3587357380TOPMED|TOPMed_freeze_5?chr9:35,657,948-01rev/C/Tctctctgcccgaggtccggggacttcccctaggcggaaaggggaggaaca10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs199476103|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 ATCCTAGGCT ACACACTGAG GACTCTGTTC CTCCCCTTTC CGCCTAGGGG
 R
 AAGTCCCCGG ACCTCGGGCA GAGAGTGCCA CGTGCATACG CACGTAGACA

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
157660.0001

  Population Diversity (Alleles in RefSNP orientation) Note: rs199476103 allele is reverse to the genome back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
ss1689475993ExAc_Aggregated_Populations 14904AF 0.999664550.00033548

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0220000

  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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