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Reference SNP (refSNP) Cluster Report: rs191864898                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:135/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (FWD)
Allele Origin:G:germline
T:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:T=0.0034/13 (1000 Genomes)
T=0.0059/745 (TOPMED)
HGVS Names
  • CM000685.2:g.18425467G>T
  • NC_000023.10:g.18443587G>T
  • NC_000023.11:g.18425467G>T
  • NG_008475.1:g.4863G>T
  • NM_003159.2:c.-391G>T
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 ss466349623 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs191864898 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
ss4663496231000GENOMES|20101123_snps_12516853_chrX_18443587fwd/G/Tcaagcgcttcctcctcattggctcctaccaaagggggcggggtaaaggcgggatcgggca07/20/1107/20/11135Genomicunknown
ss1493129818CLINVAR|SCV000192600fwd/BG/Tcaagcgcttcctcctcattggctcctaccaaagggggcggggtaaaggcgggatcgggca12/05/1412/05/14142Genomicunknown
ss15536834041000GENOMES|PHASE3_chrX_457228byFreqfwd/BG/Tgcttcctcctcattggctcctaccaaagggggcggggtaaaggcgggatc08/16/1408/07/15144Genomicunknown
ss1640414277EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18443587_45111981fwd/G/Tgcttcctcctcattggctcctaccaaagggggcggggtaaaggcgggatc03/04/1503/04/15144Genomicunknown
ss1683408310EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18443587_45111981fwd/G/Tgcttcctcctcattggctcctaccaaagggggcggggtaaaggcgggatc03/04/1503/04/15144Genomicunknown
ss2315997345HUMAN_LONGEVITY|HLI-X-18425467-G-Tfwd/G/Tgcttcctcctcattggctcctaccaaagggggcggggtaaaggcgggatc11/18/1611/18/16150Genomicunknown
ss2976925314GNOMAD|rs191864898fwd/G/Tgcttcctcctcattggctcctaccaaagggggcggggtaaaggcgggatc05/23/1705/23/17151Genomicunknown
ss3019693677SWEGEN|NC_000023.10:g.18443587G>Tfwd/G/Tgcttcctcctcattggctcctaccaaagggggcggggtaaaggcgggatc05/30/1705/30/17151Genomicunknown
ss3606363336TOPMED|TOPMed_freeze_5?chrX:18,425,467fwd/G/Tgcttcctcctcattggctcctaccaaagggggcggggtaaaggcgggatc10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs191864898|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 GCCCCTCTCA GCCTCTCCAG CCCAGGTTGC TAGGGCTTGG CGGGGCAACC AAACCTGGCG
 TGCCAGGAGG CGCGGCGCGC GCGTGAGCGC GCAGGCGAGC TTGTATAAGG AACCAGCGTT
 CTTCGGCTTC GGAGACTCGA GCACGAGCGG CGCGAGCCCG AACCCCAGGA CAAGCGCTTC
 CTCCTCATTG GCTCCTACCA
 K
 AAGGGGGCGG GGTAAAGGCG GGATCGGGCA AAACCTGAGG TGCTTTCCCA TTGGTCCGAA
 CGGGCCGGCT GGGGCGGGGC AGTTAGCAAA ATAGGCTGCG CGTTCGCTTC TGCTAGAGGG
 CGGGGCCGGA GGTTTCGATT AGTTGTCTCT GCCGCTGGGG AAGGTAAAGC GGCGACGGCG
 TCCTCAGGAG CTGTGGGGTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000023
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPG
T
ss1553683404EAS 1008AF 1.00000000
EUR 1006AF 0.993000030.00700000
AFR 1322AF 0.999199990.00080000
AMR 694AF 0.992799940.00720000
SAS 978AF 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.007+/-0.0580000

  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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