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Reference SNP (refSNP) Cluster Report: rs143992148                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
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:T
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:C=0.0002/20 (ExAC)
C=0.0005/5 (GO-ESP)
C=0.0003/34 (TOPMED)
HGVS Names
  • CM000685.2:g.18604355T>C
  • NC_000023.10:g.18622475T>C
  • NC_000023.11:g.18604355T>C
  • NG_008475.1:g.183751T>C
  • NM_001037343.1:c.1431T>C
  • NM_001323289.1:c.1431T>C
  • NM_003159.2:c.1431T>C
  • NP_001032420.1:p.Ser477=
  • NP_001310218.1:p.Ser477=
  • NP_003150.1:p.Ser477=
  • XP_005274641.1:p.Ser477=
  • XP_005274642.1:p.Ser460=
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 ss342550467 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs143992148 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
ss342550467NHLBI-ESP|ESP2500-chrX-18622475byFreqfwd/BC/Ttagctatattgacacaattccccagtcctcaggagtccctcctacaggaccaaggccaaa03/25/1109/05/14134Genomicunknown
ss1457616954CLINVAR|SCV000167643fwd/BC/Ttagctatattgacacaattccccagtcctcaggagtccctcctacaggaccaaggccaaa11/23/1411/23/14142Genomicunknown
ss1640415931EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18622475_45113814fwd/C/Tatattgacacaattccccagtcctcaggagtccctcctacaggaccaagg03/04/1503/04/15144Genomicunknown
ss1683409964EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18622475_45113814fwd/C/Tatattgacacaattccccagtcctcaggagtccctcctacaggaccaagg03/04/1503/04/15144Genomicunknown
ss1694468598EVA_EXAC|EVA_EXAC_9966526fwd/C/Tatattgacacaattccccagtcctcaggagtccctcctacaggaccaagg03/04/1503/04/15144Genomicunknown
ss2316004446HUMAN_LONGEVITY|HLI-X-18604355-T-Cfwd/C/Tatattgacacaattccccagtcctcaggagtccctcctacaggaccaagg11/18/1611/18/16150Genomicunknown
ss2486496173TOPMED|X_18622475_T/Cfwd/C/Tatattgacacaattccccagtcctcaggagtccctcctacaggaccaagg11/20/1611/20/16150Genomicunknown
ss2745323526GNOMAD|exomes_rs143992148fwd/C/Tatattgacacaattccccagtcctcaggagtccctcctacaggaccaagg05/17/1705/17/17151Genomicunknown
ss2746082262GNOMAD|coding_rs143992148fwd/C/Tatattgacacaattccccagtcctcaggagtccctcctacaggaccaagg05/17/1705/17/17151Genomicunknown
ss2976934772GNOMAD|rs143992148fwd/C/Tatattgacacaattccccagtcctcaggagtccctcctacaggaccaagg05/23/1705/23/17151Genomicunknown
ss3606386151TOPMED|TOPMed_freeze_5?chrX:18,604,355fwd/C/Tatattgacacaattccccagtcctcaggagtccctcctacaggaccaagg10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs143992148|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GCAAAGATCT CACCAACAAC AACATACCAC ACCTTCTTAG CCCAAAAGAA GCCAAGTCAA
 AAACAGAGTT TGATTTTAAT ATTGACCCAA AGCCTTCAGA AGGCCCAGGG ACAAAGTACC
 TCAAGTCAAA CAGCAGATCT CAGCAGAACC GCCACTCATT CATGGAAAGC TCTCAAAGCA
 AAGCTGGGAC ACTGCAGCCC AATGAAAAGC AGAGTCGGCA TAGCTATATT GACACAATTC
 CCCAGTCCTC
 Y
 AGGAGTCCCT CCTACAGGAC CAAGGCCAAA AGCCATGGGG CACTGAGTGA CTCCAAGTCT
 GTGAGCAACC TTTCTGAAGC CAGGGCCCAA ATTGCGGAGC CCAGTACCAG TAGGTACTTC
 CCATCTAGCT GCTTAGACTT GAATTCTCCC ACCAGCCCAA CCCCCACCAG ACACAGTGAC
 ACGAGAACTT TGCTCAGCCC TTCTGGAAGA AATAACCGAA ATGAGGGAAC GCTGGACTCA
 CGTCGAACCA

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

  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
ss1694468598ExAc_Aggregated_Populations121412AF 0.000230620.99976939
ss342550467ESP_Cohort_Populations 4548GF0.000439750.000439750.999120470.001000000.000659630.99934036

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0150000

  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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