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Reference SNP (refSNP) Cluster Report: rs63751023                 ** With Uncertain significance allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:130/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:T=0.00007/8 (ExAC)
T=0.0002/1 (1000 Genomes)
T=0.00008/1 (GO-ESP)
T=0.00006/8 (TOPMED)
HGVS Names
  • CM000669.2:g.5987051C>T
  • NC_000007.13:g.6026682C>T
  • NC_000007.14:g.5987051C>T
  • NG_008466.1:g.27056G>A
  • NM_000535.5:c.1714G>A
  • NM_000535.6:c.1714G>A
  • NM_001322003.1:c.1309G>A
  • NM_001322004.1:c.1309G>A
  • NM_001322005.1:c.1309G>A
  • NM_001322006.1:c.1558G>A
  • NM_001322007.1:c.1396G>A
  • NM_001322008.1:c.1396G>A
  • NM_001322009.1:c.1309G>A
  • NM_001322010.1:c.1153G>A
  • NM_001322011.1:c.781G>A
  • NM_001322012.1:c.781G>A
  • NM_001322013.1:c.1141G>A
  • NM_001322014.1:c.1714G>A
  • NM_001322015.1:c.1405G>A
  • NP_000526.1:p.Ala572Thr
  • NP_000526.2:p.Ala572Thr
  • NP_001308932.1:p.Ala437Thr
  • NP_001308933.1:p.Ala437Thr
  • NP_001308934.1:p.Ala437Thr
  • NP_001308935.1:p.Ala520Thr
  • NP_001308936.1:p.Ala466Thr
  • NP_001308937.1:p.Ala466Thr
  • NP_001308938.1:p.Ala437Thr
  • NP_001308939.1:p.Ala385Thr
  • NP_001308940.1:p.Ala261Thr
  • NP_001308941.1:p.Ala261Thr
  • NP_001308942.1:p.Ala381Thr
  • NP_001308943.1:p.Ala572Thr
  • NP_001308944.1:p.Ala469Thr
  • NR_003085.2:n.1796G>A
  • NR_136154.1:n.1801G>A
  • XP_006715807.1:p.Ala261Thr
  • XP_016867831.1:p.Ala261Thr
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 ss342231031 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs63751023 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
ss342231031NHLBI-ESP|ESP2500-chr7-6026682rev/BC/Tcttttttaaaacgctttgtgtttggggttggagattagttggctgaggcaaaactcgaaa03/25/1103/26/11134Genomicunknown
ss538293843MMR_WOODS|PMS2_c.1714G>Afwd/TA/Gtttcgagttttgcctcagccaactaatctccaaccccaaacacaaagcgttttaaaaaag07/31/1210/25/12137Genomicunknown
ss13237110671000GENOMES|PHASE3_V1_35820013rev/C/Tttaaaacgctttgtgtttggggttggagattagttggctgaggcaaaact08/16/1408/16/14142Genomicunknown
ss1688637043EVA_EXAC|EVA_EXAC_3690867rev/C/Tttaaaacgctttgtgtttggggttggagattagttggctgaggcaaaact03/04/1503/04/15144Genomicunknown
ss2460031079TOPMED|7_6026682_C/Trev/C/Tttaaaacgctttgtgtttggggttggagattagttggctgaggcaaaact11/20/1611/20/16150Genomicunknown
ss2736277637GNOMAD|exomes_rs63751023rev/C/Tttaaaacgctttgtgtttggggttggagattagttggctgaggcaaaact05/17/1705/17/17151Genomicunknown
ss2747772754GNOMAD|coding_rs63751023rev/C/Tttaaaacgctttgtgtttggggttggagattagttggctgaggcaaaact05/17/1705/17/17151Genomicunknown
ss2849158999GNOMAD|rs63751023rev/C/Tttaaaacgctttgtgtttggggttggagattagttggctgaggcaaaact05/19/1705/19/17151Genomicunknown
ss3521112807TOPMED|TOPMed_freeze_5?chr7:5,987,051rev/C/Tttaaaacgctttgtgtttggggttggagattagttggctgaggcaaaact10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs63751023|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GGAGGTGGAG AAGGACTCGG GGCACGGCAG CACTTCCGTG GATTCTGAGG GGTTCAGCAT
 CCCAGACACG GGCAGTCACT GCAGCAGCGA GTATGCGGCC AGCTCCCCAG GGGACAGGGG
 CTCGCAGGAA CATGTGGACT CTCAGGAGAA AGCGCCTAAA ACTGACGACT CTTTTTCAGA
 TGTGGACTGC CATTCAAACC AGGAAGATAC CGGATGTAAA TTTCGAGTTT TGCCTCAGCC
 AACTAATCTC
 R
 CAACCCCAAA CACAAAGCGT TTTAAAAAAG AAGAAATTCT TTCCAGTTCT GACATTTGTC
 AAAAGTTAGT AAATACTCAG GACATGTCAG CCTCTCAGGT TGATGTAGCT GTGAAAATTA
 ATAAGAAAGT TGTGCCCCTG GACTTTTCTA TGAGTTCTTT AGCTAAACGA ATAAAGCAGT
 TACATCATGA AGCACAGCAA AGTGAAGGGG AACAGAATTA CAGGAAGTTT AGGGCAAAGA
 TTTGTCCTGG

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

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs63751023 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1323711067EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.000800000.99919999
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1688637043ExAc_Aggregated_Populations121412AF 0.000065890.99993414
ss342231031ESP_Cohort_Populations 4532GF 0.000441310.999558691.000000000.000220650.99977934

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0080000

  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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