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Reference SNP (refSNP) Cluster Report: rs367543000                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/149
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (REV)
Allele Origin:C:germline
T:not-tested
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0001/14 (ExAC)
HGVS Names
  • NC_000022.10:g.42524214G>A
  • NC_000022.10:g.42524214G>C
  • NC_000022.10:g.42524214G>T
  • NC_000022.11:g.42128212G>A
  • NC_000022.11:g.42128212G>C
  • NC_000022.11:g.42128212G>T
  • NG_008376.3:g.6780C>A
  • NG_008376.3:g.6780C>G
  • NG_008376.3:g.6780C>T
  • NM_000106.5:c.805C>A
  • NM_000106.5:c.805C>G
  • NM_000106.5:c.805C>T
  • NM_001025161.2:c.652C>A
  • NM_001025161.2:c.652C>G
  • NM_001025161.2:c.652C>T
  • NP_000097.3:p.Arg269=
  • NP_000097.3:p.Arg269Gly
  • NP_000097.3:p.Arg269Ter
  • NP_001020332.2:p.Arg218=
  • NP_001020332.2:p.Arg218Gly
  • NP_001020332.2:p.Arg218Ter
  • NT_187682.1:g.50553G>A
  • NT_187682.1:g.50553G>C
  • NT_187682.1:g.50553G>T
  • NW_004504305.1:g.50539G>A
  • NW_004504305.1:g.50539G>C
  • NW_004504305.1:g.50539G>T
  • NW_009646208.1:g.13778G>A
  • NW_009646208.1:g.13778G>C
  • NW_009646208.1:g.13778G>T
  • NW_014040931.1:g.21801G>A
  • NW_014040931.1:g.21801G>C
  • NW_014040931.1:g.21801G>T
  • NW_015148968.1:g.5953G>A
  • NW_015148968.1:g.5953G>C
  • NW_015148968.1:g.5953G>T
  • XM_005278353.1:c.661C>A
  • XM_005278353.1:c.661C>G
  • XM_005278353.1:c.661C>T
  • XM_005278354.1:c.505C>A
  • XM_005278354.1:c.505C>G
  • XM_005278354.1:c.505C>T
  • XM_011529966.2:c.805C>A
  • XM_011529966.2:c.805C>G
  • XM_011529966.2:c.805C>T
  • XM_011529968.2:c.805C>A
  • XM_011529968.2:c.805C>G
  • XM_011529968.2:c.805C>T
  • XM_011529970.2:c.652C>A
  • XM_011529970.2:c.652C>G
  • XM_011529970.2:c.652C>T
  • XM_011529972.2:c.805C>A
  • XM_011529972.2:c.805C>G
  • XM_011529972.2:c.805C>T
  • XM_011547756.2:c.-1823G>A
  • XM_011547756.2:c.-1823G>C
  • XM_011547756.2:c.-1823G>T
  • XP_005278410.1:p.Arg221=
  • XP_005278410.1:p.Arg221Gly
  • XP_005278410.1:p.Arg221Ter
  • XP_005278411.1:p.Arg169=
  • XP_005278411.1:p.Arg169Gly
  • XP_005278411.1:p.Arg169Ter
  • XP_011528268.1:p.Arg269=
  • XP_011528268.1:p.Arg269Gly
  • XP_011528268.1:p.Arg269Ter
  • XP_011528270.1:p.Arg269=
  • XP_011528270.1:p.Arg269Gly
  • XP_011528270.1:p.Arg269Ter
  • XP_011528272.1:p.Arg218=
  • XP_011528272.1:p.Arg218Gly
  • XP_011528272.1:p.Arg218Ter
  • XP_011528274.1:p.Arg269=
  • XP_011528274.1:p.Arg269Gly
  • XP_011528274.1:p.Arg269Ter
  • XR_001755560.1:n.-1658G>A
  • XR_001755560.1:n.-1658G>C
  • XR_001755560.1:n.-1658G>T
  • XR_001755562.1:n.-1658G>A
  • XR_001755562.1:n.-1658G>C
  • XR_001755562.1:n.-1658G>T
  • XR_001755563.1:n.-1658G>A
  • XR_001755563.1:n.-1658G>C
  • XR_001755563.1:n.-1658G>T
  • XR_001755566.1:n.-650G>A
  • XR_001755566.1:n.-650G>C
  • XR_001755566.1:n.-650G>T
  • XR_001756649.1:n.-1659G>A
  • XR_001756649.1:n.-1659G>C
  • XR_001756649.1:n.-1659G>T
  • XR_001756650.1:n.-1659G>A
  • XR_001756650.1:n.-1659G>C
  • XR_001756650.1:n.-1659G>T
  • XR_001756654.1:n.-1659G>A
  • XR_001756654.1:n.-1659G>C
  • XR_001756654.1:n.-1659G>T
  • XR_001756655.1:n.-1659G>A
  • XR_001756655.1:n.-1659G>C
  • XR_001756655.1:n.-1659G>T
  • XR_001756656.1:n.-652G>A
  • XR_001756656.1:n.-652G>C
  • XR_001756656.1:n.-652G>T
  • XR_001756694.1:n.-1659G>A
  • XR_001756694.1:n.-1659G>C
  • XR_001756694.1:n.-1659G>T
  • XR_001756695.1:n.-1659G>A
  • XR_001756695.1:n.-1659G>C
  • XR_001756695.1:n.-1659G>T
  • XR_001756696.1:n.-1659G>A
  • XR_001756696.1:n.-1659G>C
  • XR_001756696.1:n.-1659G>T
  • XR_001756698.1:n.-128G>A
  • XR_001756698.1:n.-128G>C
  • XR_001756698.1:n.-128G>T
  • XR_001756840.1:n.-1659G>A
  • XR_001756840.1:n.-1659G>C
  • XR_001756840.1:n.-1659G>T
  • XR_001756954.1:n.-1659G>A
  • XR_001756954.1:n.-1659G>C
  • XR_001756954.1:n.-1659G>T
  • XR_001756957.1:n.-1691G>A
  • XR_001756957.1:n.-1691G>C
  • XR_001756957.1:n.-1691G>T
  • XR_001756959.1:n.-1997G>A
  • XR_001756959.1:n.-1997G>C
  • XR_001756959.1:n.-1997G>T
  • XR_001756961.1:n.-651G>A
  • XR_001756961.1:n.-651G>C
  • XR_001756961.1:n.-651G>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 ss748770724 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs367543000 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
ss748770724GSFL-UDRUGS|2D6_2579C>Tfwd/BC/Taggatgacctgggacccagcccagccccccgagacctgactgaggccttcctggcagaga03/28/1303/28/13137Genomicunknown
ss1694379224EVA_EXAC|EXAC_0.3.22:g42524214g>arev/A/Ggccaggaaggcctcagtcaggtctcggggggctgggctgggtcccaggtc03/04/1503/04/15144Genomicunknown
ss1694379225EVA_EXAC|EXAC_0.3.22:g42524214g>trev/G/Tgccaggaaggcctcagtcaggtctcggggggctgggctgggtcccaggtc03/04/1503/04/15144Genomicunknown
ss1694379226EVA_EXAC|EXAC_0.3.22:g42524214g>crev/C/Ggccaggaaggcctcagtcaggtctcggggggctgggctgggtcccaggtc03/04/1503/04/15144Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs367543000|allelePos=51|totalLen=101|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=144
 ATGAGCTGCT AACTGAGCAC AGGATGACCT GGGACCCAGC CCAGCCCCCC
 N
 GAGACCTGAC TGAGGCCTTC CTGGCAGAGA TGGAGAAGGT GAGAGTGGCT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
124030

  Population Diversity (Alleles in RefSNP orientation) Note: rs367543000 allele is reverse to the genome back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
C
G
T
ss1694379224ExAc_Aggregated_Populations121186AF 0.99988449 0.00011552
ss1694379225ExAc_Aggregated_Populations121175AF 0.000024760.99997526
ss1694379226ExAc_Aggregated_Populations121173AF 0.999991770.00000825

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0130000

  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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