NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs113663584                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:132/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:T=0.0006/70 (ExAC)
T=0.0004/2 (1000 Genomes)
T=0.0006/8 (GO-ESP)
T=0.0008/96 (TOPMED)
HGVS Names
  • CM000671.2:g.95449903C>T
  • NC_000009.11:g.98212185C>T
  • NC_000009.12:g.95449903C>T
  • NG_007664.1:g.72063G>A
  • NM_000264.3:c.3487G>A
  • NM_000264.4:c.3487G>A
  • NM_001083602.1:c.3289G>A
  • NM_001083602.2:c.3289G>A
  • NM_001083603.1:c.3484G>A
  • NM_001083603.2:c.3484G>A
  • NM_001083604.1:c.3034G>A
  • NM_001083604.2:c.3034G>A
  • NM_001083605.1:c.3034G>A
  • NM_001083605.2:c.3034G>A
  • NM_001083606.1:c.3034G>A
  • NM_001083606.2:c.3034G>A
  • NM_001083607.1:c.3034G>A
  • NM_001083607.2:c.3034G>A
  • NM_001354918.1:c.3331G>A
  • NP_000255.2:p.Gly1163Ser
  • NP_001077071.1:p.Gly1097Ser
  • NP_001077072.1:p.Gly1162Ser
  • NP_001077073.1:p.Gly1012Ser
  • NP_001077074.1:p.Gly1012Ser
  • NP_001077075.1:p.Gly1012Ser
  • NP_001077076.1:p.Gly1012Ser
  • NP_001341847.1:p.Gly1111Ser
  • NR_149061.1:n.3509G>A
  • XP_005252159.1:p.Gly1012Ser
  • XP_005252160.1:p.Gly883Ser
  • XR_242599.1:n.3841-580G>A
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 ss342277418 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs113663584 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
ss181339817CANCER-GENOME|58520fwd/BC/Tcgggaagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcacagcaaa12/04/0912/04/09132Genomicunknown
ss342277418NHLBI-ESP|ESP2500-chr9-98212185byFreqfwd/BC/Tcgggaagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcacagcaaa03/25/1109/05/14134Genomicunknown
ss4611976081000GENOMES|20101123_snps_7364838_chr9_98212185fwd/C/Tcgggaagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcacagcaaa07/20/1107/20/11135Genomicunknown
ss4909807761000GENOMES|20110521_exome_488574_chr9_98212185fwd/BC/Tcgggaagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcacagcaaa02/10/1202/21/12137Genomicunknown
ss491424839EXOME_CHIP|nonsyn_141065_chr_9_98212185fwd/BC/Tcgggaagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcacagcaaa03/05/1203/05/12137Genomicunknown
ss491939138CLINSEQ_SNP|SNV-chr9-97252006byFreqfwd/BC/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca03/06/1209/05/14137Genomicunknown
ss780878372ILLUMINA|HumanOmni25Exome-8v1_A_exm763943-0_B_F_1922421787fwd/BC/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca05/30/1307/10/15146Genomicunknown
ss783563935ILLUMINA|HumanOmniExpressExome-8v1_A_exm763943-0_B_F_1922421787fwd/BC/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca05/31/1306/19/15146Genomicunknown
ss784304698CLINSEQ_CLINVAR|SCV000043449rev/TA/Gtttgctgtgctggcgatcctcaccatcctcgcgttctcaatgggctggttttgcttcccg06/03/1306/03/13137Genomicunknown
ss13346610351000GENOMES|PHASE3_V1_47199283fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca08/16/1408/16/14142Genomicunknown
ss1596403988EVA_DECODE|EVA_DECODE_9_97252006_580619_rs113663584fwd/BC/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca03/02/1503/03/15144Genomicunknown
ss1623135382EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_9_98212185_26079060fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca03/04/1503/04/15144Genomicunknown
ss1666129415EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_9_98212185_26079060fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca03/04/1503/04/15144Genomicunknown
ss1689561584EVA_EXAC|EVA_EXAC_4686776fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca03/04/1503/04/15144Genomicunknown
ss1711230173EVA_MGP|EVA_XIMO_345933fwd/BC/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca03/09/1503/09/15144Genomicunknown
ss1752790490ILLUMINA|OmniExpressExome-8v1-1_B_exm763943-0_B_F_1922421787fwd/BC/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca05/27/1506/09/15146Genomicunknown
ss1917838074ILLUMINA|HumanExome-12v1-1_B_exm763943-0_B_F_1922421787fwd/BC/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca10/16/1510/16/15147Genomicunknown
ss1946262948ILLUMINA|HumanCoreExome-12v1-0_C_exm763943-0_B_F_1922421787fwd/BC/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca10/29/1510/29/15147Genomicunknown
ss1959198155ILLUMINA|exm763943-0_B_F_1922421787fwd/BC/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca11/13/1511/13/15147Genomicunknown
ss2312795278HUMAN_LONGEVITY|HLI-9-95449903-C-Tfwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca11/18/1611/18/16150Genomicunknown
ss2483248146TOPMED|9_98212185_C/Tfwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca11/20/1611/20/16150Genomicunknown
ss2737724570GNOMAD|exomes_rs113663584fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca05/17/1705/17/17151Genomicunknown
ss2748223405GNOMAD|coding_rs113663584fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca05/17/1705/17/17151Genomicunknown
ss2880960730GNOMAD|rs113663584fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca05/19/1705/19/17151Genomicunknown
ss2985466983AFFY|Axiom_PsorMich_Affx-52298881fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca05/24/1705/24/17151Genomicunknown
ss2986113278AFFY|Axiom_Smokesc1_Affx-52298881fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca05/24/1705/24/17151Genomicunknown
ss3005267407SWEGEN|NC_000009.11:g.98212185C>Tfwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca05/30/1705/30/17151Genomicunknown
ss3022945043ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm763943-0_B_F_1922421787fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca06/28/1706/28/17151Genomicunknown
ss3595430198TOPMED|TOPMed_freeze_5?chr9:95,449,903fwd/C/Tagcaaaaccagcccattgagaacgcgaggatggtgaggatcgccagcaca10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs113663584|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 ACCAAACCGA ACCCGCCCTC TAGCCCTCAA AGCCAGTACA CCGAAGAGGA AAACAGACAT
 GACTCTGAGA TGTTTACTGA AGAACCACCA GCAAGTGGGG AGGCACCTAA GTATCGAAGT
 GAAGAGCGGC ACAGGAAACA CAGCATTCAG CCGGCCTACA CGTGGGACAT CCCCGTGTCA
 CTACTGACCT CAGGATATGG TCCAAAGAAA GACAAAAGCA CGGGAAGCAA AACCAGCCCA
 TTGAGAACGC
 Y
 GAGGATGGTG AGGATCGCCA GCACAGCAAA GAAATACCTG GGAGATCAAG AGGAAACGGG
 AACACGCGCT GTGACAGGGT GGATCGCGCC ACCCTCCGTG TGCCCGACAC AGCAGCATGG
 CAACGCCAGA AATGAACAAA ACCCACCCCA CTGAAAAGGC TGTTATCCAA CCGCAGTTCA
 CATTCAACAC AAGGTGAGTT TTTGCTTTTT GTTTCTTTAC CTTATGACTT TGAGGACTAC
 ATTCCACAAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000009.9
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.
SourceC/C
C/T
T/T
HWPC
T
ss1334661035EAS 1008AF 1.00000000
EUR 1006AF 0.999000010.00100000
AFR 1322AF 1.00000000
AMR 694AF 0.998599950.00140000
SAS 978AF 1.00000000
ss1689561584ExAc_Aggregated_Populations121412AF 0.999423440.00057655
ss342277418ESP_Cohort_Populations 4552GF0.999121250.00087873 1.000000000.999560650.00043937
ss491939138CSAgilent 1321GF0.995000000.00500000 1.000000000.997500000.00250000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0240000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement