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Reference SNP (refSNP) Cluster Report: rs45477599                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:127/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0002/21 (ExAC)
A=0.0006/3 (1000 Genomes)
A=0.0005/6 (GO-ESP)
A=0.0004/53 (TOPMED)
HGVS Names
  • CM000670.2:g.18400073T>A
  • NC_000008.10:g.18257583T>A
  • NC_000008.11:g.18400073T>A
  • NG_012246.1:g.13829T>A
  • NM_000015.2:c.70T>A
  • NP_000006.2:p.Leu24Ile
  • XP_016868427.1:p.Leu24Ile
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 ss70456611 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs45477599 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
ss70456611EGP_SNPS|NAT2-010140fwd/A/Taactctaggaacaaattggacttggaaacataactgacattcttgagcaccagatccggg04/19/0704/19/07127Genomicunknown
ss342253597NHLBI-ESP|ESP2500-chr8-18257583byFreqfwd/A/Taactctaggaacaaattggacttggaaacataactgacattcttgagcaccagatccggg03/25/1109/05/14134Genomicunknown
ss4888833951000GENOMES|20110521_exome_116804_chr8_18257583fwd/A/Taactctaggaacaaattggacttggaaacataactgacattcttgagcaccagatccggg02/10/1202/13/12137Genomicunknown
ss491410750EXOME_CHIP|nonsyn_126976_chr_8_18257583fwd/A/Taactctaggaacaaattggacttggaaacataactgacattcttgagcaccagatccggg03/05/1203/05/12137Genomicunknown
ss780867817ILLUMINA|HumanOmni25Exome-8v1_A_exm685657-0_T_R_1922936148fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat05/30/1307/10/15146Genomicunknown
ss783552748ILLUMINA|HumanOmniExpressExome-8v1_A_exm685657-0_T_R_1922936148fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat05/31/1306/19/15146Genomicunknown
ss13288538891000GENOMES|PHASE3_V1_41164973fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat08/16/1408/16/14142Genomicunknown
ss1594845133EVA_DECODE|EVA_DECODE_8_18301863_223843_rs45477599fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat03/02/1503/03/15144Genomicunknown
ss1689107786EVA_EXAC|EVA_EXAC_4197201fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat03/04/1503/04/15144Genomicunknown
ss1928545812WEILL_CORNELL_DGM|SNV:chr8:18257583fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat10/16/1510/17/15147Genomicunknown
ss2301164520HUMAN_LONGEVITY|HLI-8-18400073-T-Afwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat11/18/1611/18/16150Genomicunknown
ss2470822116TOPMED|8_18257583_T/Afwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat11/20/1611/20/16150Genomicunknown
ss2634717892ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_exm685657-0_T_R_1922936148fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat02/02/1702/02/17151Genomicunknown
ss2711131661ILLUMINA|Consortium-OncoArray_15047405_A_rs45477599-131_T_R_1889508995fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat03/22/1703/22/17151Genomicunknown
ss2737016575GNOMAD|exomes_rs45477599fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat05/17/1705/17/17151Genomicunknown
ss2748005898GNOMAD|coding_rs45477599fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat05/17/1705/17/17151Genomicunknown
ss2863932556GNOMAD|rs45477599fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat05/19/1705/19/17151Genomicunknown
ss2985432605AFFY|Axiom_PsorMich_Affx-31859108fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat05/24/1705/24/17151Genomicunknown
ss3022824440ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685657-0_T_R_1922936148fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat06/28/1706/28/17151Genomicunknown
ss3555514665TOPMED|TOPMed_freeze_5?chr8:18,400,073fwd/A/Ttaggaacaaattggacttggaaacataactgacattcttgagcaccagat10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs45477599|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=151
 GAACTTATGC ATGTAAAAGG GATTCATGCA GTAGAAATAC TAACAAAAGA ATTACTATGA
 CAGATACTTA TAACCATTGT GTTTTTACGT ATTTAAAATA CGTTATACCT ATAATTAGTC
 ACACGAGGAA ATCAAATGCT AAAGTATGAT ATGTTTTTAT GTTTTGTTTT TCTTGCTTAG
 GGGATCATGG ACATTGAAGC ATATTTTGAA AGAATTGGCT ATAAGAACTC TAGGAACAAA
 TTGGACTTGG AAACA
 W
 TAACTGACAT TCTTGAGCAC CAGATCCGGG CTGTTCCCTT TGAGAACCTT AACATGCATT
 GTGGGCAAGC CATGGAGTTG GGCTTAGAGG CTATTTTTGA TCACATTGTA AGAAGAAACC
 GGGGTGGGTG GTGTCTCCAG GTCAATCAAC TTCTGTACTG GGCTCTGACC ACAATCGGTT
 TTCAGACCAC AATGTTAGGA GGGTATTTTT ACATCCCTCC AGTTAACAAA TACAGCACTG
 GCATGGTTCA CCTTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008
dbSNP Blast Analysis
3D structure mapping
NP_000006  

  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.
SourceA/A
A/T
T/T
HWPA
T
ss1328853889EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.002300000.99769998
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1689107786ExAc_Aggregated_Populations121412AF 0.000172960.99982703
ss342253597ESP_Cohort_Populations 4546GF 0.002199740.997800291.000000000.001099870.99890012
ss70456611PDR90-PANEL 176AF 0.005681820.99431819
ENSEMBL_Watson 2IG 1.00000000 1.00000000

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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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