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Reference SNP (refSNP) Cluster Report: rs370169077                 ** With Uncertain significance allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:138/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:G:germline
T:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:A=0.00007/9 (ExAC)
T=0.00008/1 (GO-ESP)
T=0.00004/5 (TOPMED)
HGVS Names
  • CM000679.2:g.7221555G>A
  • CM000679.2:g.7221555G>T
  • NC_000017.10:g.7124874G>A
  • NC_000017.10:g.7124874G>T
  • NC_000017.11:g.7221555G>A
  • NC_000017.11:g.7221555G>T
  • NG_007975.1:g.6722G>A
  • NG_007975.1:g.6722G>T
  • NG_008391.2:g.3496C>A
  • NG_008391.2:g.3496C>T
  • NM_000018.3:c.495G>A
  • NM_000018.3:c.495G>T
  • NM_001033859.2:c.429G>A
  • NM_001033859.2:c.429G>T
  • NM_001270447.1:c.564G>A
  • NM_001270447.1:c.564G>T
  • NM_001270448.1:c.267G>A
  • NM_001270448.1:c.267G>T
  • NM_001321074.1:c.-2706C>A
  • NM_001321074.1:c.-2706C>T
  • NM_001365.4:c.-2706C>A
  • NM_001365.4:c.-2706C>T
  • NP_000009.1:p.Glu165=
  • NP_000009.1:p.Glu165Asp
  • NP_001029031.1:p.Glu143=
  • NP_001029031.1:p.Glu143Asp
  • NP_001257376.1:p.Glu188=
  • NP_001257376.1:p.Glu188Asp
  • NP_001257377.1:p.Glu89=
  • NP_001257377.1:p.Glu89Asp
  • NR_135527.1:n.-1505C>A
  • NR_135527.1:n.-1505C>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 ss713354512 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs370169077 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
ss713354512NHLBI-ESP|ESP6500SI-chr17-7124874fwd/BG/Tgcttcccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcgtgggc02/20/1302/20/13138Genomicunknown
ss947846745EGL|SCV000109747fwd/BG/Tgcttcccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcgtgggc01/23/1401/23/14138Genomicunknown
ss1635234089EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_17_7124874_39384211fwd/G/Tccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcg03/04/1503/04/15144Genomicunknown
ss1678228122EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_17_7124874_39384211fwd/G/Tccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcg03/04/1503/04/15144Genomicunknown
ss1692563580EVA_EXAC|EXAC_0.3.17:g7124874g>afwd/A/Gccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcg03/04/1503/04/15144Genomicunknown
ss1692563581EVA_EXAC|EXAC_0.3.17:g7124874g>tfwd/G/Tccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcg03/04/1503/04/15144Genomicunknown
ss1696936664EVA_DECODE|EVA_DECODE_17_7065598_62667_rs370169077fwd/BG/Tccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcg03/02/1503/04/15144Genomicunknown
ss2742385583GNOMAD|exomes_rs370169077fwd/A/G/Tccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcg05/17/1705/17/17151Genomicunknown
ss2749672637GNOMAD|coding_rs370169077fwd/A/Gccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcg05/17/1705/17/17151Genomicunknown
ss2947395416GNOMAD|rs370169077fwd/A/Gccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcg05/23/1705/23/17151Genomicunknown
ss3015151820SWEGEN|NC_000017.10:g.7124874G>Tfwd/G/Tccctccagtacgcccgtttggtggaatcgtgggcatgcatgaccttggcg05/30/1705/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs370169077|allelePos=101|totalLen=201|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 ACTGCCCTGT TGCCCACACT CTCCTGTTAA GGTCAGGTCC CCCTGCAGCC AGTGACAACC
 CCAGATTCCT GCTTCCCCTC CAGTACGCCC GTTTGGTGGA
 D
 ATCGTGGGCA TGCATGACCT TGGCGTGGGC ATTACCCTGG GGGCCCATCA GAGCATCGGT
 TTCAAAGGCA TCCTGCTCTT TGGCACAAAG GCCCAGAAAG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
3D structure mapping
NP_000009  NP_001029031  

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPA
G
T
ss1692563580ExAc_Aggregated_Populations121404AF 0.000074130.99992585
ss1692563581ExAc_Aggregated_Populations121403AF 0.999934080.00006590

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0120000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqUNKNOWNUNKNOWNUNKNOWN