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Reference SNP (refSNP) Cluster Report: rs147819758                 ** With untested allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:A:unknown
G:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With untested allele [ClinVar]
MAF/MinorAlleleCount:A=0.0204/77 (1000 Genomes)
A=0.0227/2850 (TOPMED)
HGVS Names
  • CM000685.2:g.18608991G>A
  • NC_000023.10:g.18627111G>A
  • NC_000023.11:g.18608991G>A
  • NG_008475.1:g.188387G>A
  • NM_001037343.1:c.2046+79G>A
  • NM_001323289.1:c.2046+79G>A
  • NM_003159.2:c.2046+79G>A
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 ss341340922 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs147819758 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
ss3413409221000GENOMES|20100804_snps_92626_chrX_18627111fwd/TA/Gtgcctagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggcttata03/23/1103/23/11134Genomicunknown
ss538296833CHWRETT|CDKL5: c.2046+79G>Afwd/TA/Gtgcctagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggcttata08/08/1208/08/12137Genomicunknown
ss566785239TISHKOFF|snp_chrX_18627111fwd/TA/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc11/22/1211/23/12138Genomicunknown
ss678454408WARNICH_LAB|exom_X_18627111fwd/TA/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc01/18/1301/18/13138Genomicunknown
ss1082815216JMKIDD_LAB|HGDP_WGS_chrX_18627111fwd/TA/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc07/10/1407/12/14142Genomicunknown
ss15536869771000GENOMES|PHASE3_chrX_460801byFreqfwd/TA/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc08/16/1408/07/15144Genomicunknown
ss1583339770EVA_GENOME_DK|EVA_GENOME_DK_snv_rs147819758fwd/TA/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc02/19/1502/20/15144Genomicunknown
ss1640415969EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_18627111_45113858fwd/A/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc03/04/1503/04/15144Genomicunknown
ss1683410002EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_18627111_45113858fwd/A/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc03/04/1503/04/15144Genomicunknown
ss1711578187EVA_MGP|EVA_XIMO_693947fwd/TA/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc03/09/1503/09/15144Genomicunknown
ss1939182651WEILL_CORNELL_DGM|SNV:chrX:18627111fwd/TA/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc10/16/1510/19/15147Genomicunknown
ss2316004582HUMAN_LONGEVITY|HLI-X-18608991-G-Afwd/A/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc11/18/1611/18/16150Genomicunknown
ss2976934973GNOMAD|rs147819758fwd/A/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc05/23/1705/23/17151Genomicunknown
ss3019694957SWEGEN|NC_000023.10:g.18627111G>Afwd/A/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc05/30/1705/30/17151Genomicunknown
ss3606386651TOPMED|TOPMed_freeze_5?chrX:18,608,991fwd/A/Gagcttttaaaatgtattaatacccatctcccacaaataagttgaagtggc10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs147819758|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CATTTGTTCA ACATCATTAC TGCCTAGCTT TTAAAATGTA TTAATACCCA
 R
 TCTCCCACAA ATAAGTTGAA GTGGCTTATA AAGTAAGTAG TTTTCCTTGT

  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.
SourceHWPA
G
ss1553686977EAS 1008AF 1.00000000
EUR 1006AF 0.004000000.99599999
AFR 1322AF 0.051400000.94859999
AMR 694AF 0.007200000.99279994
SAS 978AF 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.040+/-0.1360000

  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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