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Reference SNP (refSNP) Cluster Report: rs74597329                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.3750/3 (ExAC)
G=0.3686/1846 (1000 Genomes)
G=0.4028/50579 (TOPMED)
HGVS Names
  • CM000681.2:g.39248515T>A
  • CM000681.2:g.39248515T>G
  • NC_000019.10:g.39248515T>A
  • NC_000019.10:g.39248515T>G
  • NC_000019.9:g.39739155T>G
  • NG_042193.1:g.1457A>C
  • NG_042193.1:g.1457A>T
  • NG_055295.1:g.5342A>C
  • NG_055295.1:g.5342A>T
  • NM_001276254.2:c.65C=
  • NM_001276254.2:c.65C>A
  • NM_001276254.2:c.65C>T
  • NP_001263183.2:p.Ala22=
  • NP_001263183.2:p.Ala22Glu
  • NP_001263183.2:p.Ala22Val
  • NR_074079.1:n.342A>C
  • NR_074079.1:n.342A>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 ss137673722 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs74597329 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
ss137673722ENSEMBL|ENSSNP11445456fwd/BG/Tagtgcgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggacccacagcc05/15/0905/16/09131Genomicunknown
ss13631504251000GENOMES|PHASE3_V1_76873343fwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca08/16/1408/16/14142Genomicunknown
ss1578638583EVA_GENOME_DK|EVA_GENOME_DK_snv_rs74597329fwd/BG/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca02/19/1502/20/15144Genomicunknown
ss1693589560EVA_EXAC|EVA_EXAC_9022809fwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca03/04/1503/04/15144Genomicunknown
ss1698349558EVA_DECODE|EVA_DECODE_19_44430995_290363_rs74597329fwd/BG/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca03/02/1503/05/15144Genomicunknown
ss1937789877WEILL_CORNELL_DGM|SNV:chr19:39739155fwd/BG/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca10/16/1510/19/15147Genomicunknown
ss2029674036JJLAB|SNP10176591fwd/BG/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca08/29/1608/31/16149Genomicunknown
ss2158214110USC_VALOUEV|NC_000019.9:g.39739155T>Gfwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca11/17/1611/17/16150Genomicunknown
ss2391450971TOPMED|19_39739155_T/Gfwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca11/19/1611/19/16150Genomicunknown
ss2702824669GRF|rs74597329fwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca02/13/1702/13/17151Genomicunknown
ss2743976098GNOMAD|exomes_rs771163515fwd/A/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca05/17/1705/17/17151Genomicunknown
ss2750182054GNOMAD|coding_rs771163515fwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca05/17/1705/17/17151Genomicunknown
ss2962824192GNOMAD|rs771163515fwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca05/23/1705/23/17151Genomicunknown
ss3017465694SWEGEN|NC_000019.9:g.39739155T>Gfwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca05/30/1705/30/17151Genomicunknown
ss3293195609TOPMED|TOPMed_freeze_5?chr19:39,248,515fwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca10/02/1710/02/17151Genomicunknown
ss3352301436CSHL|rs74597329fwd/G/Tgagagcaggcagcgccggggggcctctgcgatcaccgtgcacaggaccca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs74597329|allelePos=102|totalLen=203|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 TGGGCGGTGA CTTACGTAGC GGTCCCTCAG CGCCTTGGCA GCCGCCAGCG TCCGGGGCTC
 CAGCGAGCGG TAGTGCGAGA GCAGGCAGCG CCGGGGGGCC T
 D
 CTGCGATCAC CGTGCACAGG ACCCACAGCC CCGCGGCCAC TGCGGCCCAG ACACTCGGCC
 GCATCTCTGC TTCTGCAGCA GGCGAGAGAC GTCAGGGAAG C

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

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

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
HWPG
T
ss1363150425EAS 1008AF 0.080400000.91960001
EUR 1006AF 0.312099990.68790001
AFR 1322AF 0.706499990.29350001
AMR 694AF 0.403499990.59650004
SAS 978AF 0.242300000.75769997
ss137673722ENSEMBL_Watson 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.469+/-0.1210000

  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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