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: rs11591147                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
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 Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:T=0.0222/689 (ExAC)
T=0.0064/32 (1000 Genomes)
T=0.0098/127 (GO-ESP)
T=0.0097/1219 (TOPMED)
HGVS Names
  • CM000663.2:g.55039974G>T
  • NC_000001.10:g.55505647G>A
  • NC_000001.10:g.55505647G>T
  • NC_000001.11:g.55039974G>T
  • NG_009061.1:g.5428G>A
  • NG_009061.1:g.5428G>T
  • NM_174936.3:c.137G>A
  • NM_174936.3:c.137G>T
  • NP_777596.2:p.Arg46His
  • NP_777596.2:p.Arg46Leu
  • NR_110451.1:n.-248G>A
  • NR_110451.1:n.-248G>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 ss44113225 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11591147 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
ss16462206CSHL-HAPMAP|CSHL-HuAA-200402.chr1.NT_032977.6_17068718fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc02/17/0403/04/04120Genomicunknown
ss20609873SSAHASNP|WGSA-200403-chr1.chr1.NT_032977.6_17068718fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc03/18/0403/18/04121Genomicunknown
ss35032046PGA-UW-FHCRC|PCSK9-002430fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc01/19/0503/21/07125Genomicunknown
ss44113225ABI|hCV2018188byFreqfwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc07/18/0509/05/14126Genomicunknown
ss74887152ILLUMINA|ILMN_Human_1M_rs11591147fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc08/28/0708/29/07129Genomicunknown
ss107937127RSG_UW|PCSK9-002431byFreqfwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc12/08/0809/05/14130Genomicunknown
ss119692964KRIBB_YJKIM|KHS1810546fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc02/04/0902/05/09131Genomicunknown
ss159983554ILLUMINA|HumanOmni1-Quad_v1-0_B_rs11591147-128_B_F_1513885913fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc08/04/0910/01/09131Genomicunknown
ss161260637ENSEMBL|ENSSNP235901fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc09/24/0909/24/09131Genomicunknown
ss171321036ILLUMINA|Human1M-Duov3_B_rs11591147-128_B_F_1513885913fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc10/01/0910/01/09132Genomicunknown
ss181341911PAGE_STUDY|PAGE_WHI_rs11591147rev/TA/Cggtgcttcggccaggccgtcctcctcggaagcaaggctagcaccagctcctcgtagtcgc12/04/0912/04/09132Genomicunknown
ss181834396PAGE_STUDY|PAGE_CALiCo_rs11591147fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc12/14/0912/23/10132Genomicunknown
ss181835878PAGE_STUDY|PAGE_EAGLE_rs11591147fwd/BG/Tactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc12/14/0912/23/10132Genomicunknown
ss244273307ILLUMINA|CVDSNP55v1_A_rs11591147fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc06/10/1006/10/10132Genomicunknown
ss290490008OMIM-CURATED-RECORDS|15206fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc01/19/1101/19/11133Genomicunknown
ss3286142981000GENOMES|20100804_snps_257834_chr1_55505647fwd/G/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc03/22/1103/22/11134Genomicunknown
ss341966456NHLBI-ESP|ESP2500-chr1-55505647byFreqfwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc03/25/1109/05/14134Genomicunknown
ss410893731ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs11591147fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc06/07/1106/07/11135Genomicunknown
ss469414598PAGE_STUDY|PAGE_MEC_Y1_rs11591147fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa09/26/1109/26/11137Genomicunknown
ss479534473ILLUMINA|HumanOmni2.5-4v1_B_rs11591147-128_B_F_1731864260fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa01/30/1210/28/16137Genomicunknown
ss479538342ILLUMINA|HumanOmniExpress-12v1_C_rs11591147-131_B_F_1857278824fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa01/30/1210/27/16137Genomicunknown
ss480000048ILLUMINA|HumanOmni1-Quad_v1-0_C_rs11591147-131_B_F_1857278824fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa01/30/1208/28/15146Genomicunknown
ss484566121ILLUMINA|HumanOmni2.5-4v1_D_rs11591147-131_B_F_1857278824fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa01/30/1210/27/16137Genomicunknown
ss4897450011000GENOMES|20110521_exome_306477_chr1_55505647fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc02/10/1202/21/12137Genomicunknown
ss491294403EXOME_CHIP|nonsyn_10630_chr_1_55505647fwd/BG/Tgcgactacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaagcacc03/05/1203/05/12137Genomicunknown
ss536701236ILLUMINA|HumanOmni5-4v1_B_rs11591147-131_B_F_1885467675fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa06/22/1208/28/15146Genomicunknown
ss778759802ILLUMINA|HumanOmni25Exome-8v1_A_rs11591147-131_B_F_1857278824fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/30/1307/09/15146Genomicunknown
ss782729801ILLUMINA|HumanOmni2.5-4v1_H_rs11591147-131_B_F_1857278824fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/30/1307/28/15146Genomicunknown
ss783544554ILLUMINA|HumanOmniExpressExome-8v1_A_exm62588-0_B_F_1921344525fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/31/1306/18/15146Genomicunknown
ss783697037ILLUMINA|HumanOmniExpressExome-8v1_A_rs11591147-131_B_F_1885467675fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/31/1306/18/15146Genomicunknown
ss831981544ILLUMINA|HumanOmniExpress-12v1_H_rs11591147-131_B_F_1857278824fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa09/17/1306/18/15146Genomicunknown
ss834219551ILLUMINA|HumanOmni2.5-8v1_A_rs11591147-131_B_F_1857278824fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa09/18/1307/28/15146Genomicunknown
ss975160890EVA-GONL|EVA-GONL_rs11591147fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa04/23/1404/23/14142Genomicunknown
ss12908952771000GENOMES|PHASE3_V1_1622140fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa08/16/1408/16/14142Genomicunknown
ss1584527211EVA_DECODE|EVA_DECODE_1_55278235_397954_rs11591147fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa03/02/1503/02/15144Genomicunknown
ss1600174611EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_1_55505647_877793fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa03/04/1503/04/15144Genomicunknown
ss1643168644EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_1_55505647_877793fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa03/04/1503/04/15144Genomicunknown
ss1685564958EVA_EXAC|EVA_EXAC_373103fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa03/04/1503/04/15144Genomicunknown
ss1710906296EVA_MGP|EVA_XIMO_23048fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa03/09/1503/09/15144Genomicunknown
ss1751925280ILLUMINA|OmniExpressExome-8v1-1_B_exm62588-0_B_F_1921344525fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/27/1506/09/15146Genomicunknown
ss1751925281ILLUMINA|OmniExpressExome-8v1-1_B_rs11591147-131_B_F_1885467675fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/27/1506/09/15146Genomicunknown
ss1917729168ILLUMINA|HumanExome-12v1-1_B_exm62588-0_B_F_1921344525fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa10/16/1510/16/15147Genomicunknown
ss1945995572ILLUMINA|HumanCoreExome-12v1-0_C_exm62588-0_B_F_1921344525fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa10/29/1510/29/15147Genomicunknown
ss1958273502ILLUMINA|exm62588-0_B_F_1921344525fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa11/13/1511/13/15147Genomicunknown
ss2019700442JJLAB|SNP202997fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa08/29/1608/30/16149Genomicunknown
ss2094783055ILLUMINA|Immuno_BeadChip_11419691_B_rs11591147-131_B_F_1857278824fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa09/27/1609/27/16150Genomicunknown
ss2094958758ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs11591147-131_B_F_1857278824fwd/BG/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa09/27/1609/27/16150Genomicunknown
ss2147714777USC_VALOUEV|NC_000001.10:g.55505647G>Tfwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa11/17/1611/17/16150Genomicunknown
ss2162510260HUMAN_LONGEVITY|HLI-1-55039974-G-A,Tfwd/A/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa11/18/1611/18/16150Genomicunknown
ss2324750619TOPMED|1_55505647_G/Tfwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa11/19/1611/19/16150Genomicunknown
ss2632515443ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs11591147-131_B_F_1885467fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa02/02/1702/02/17151Genomicunknown
ss2632515444ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs11591147-131_B_F_213fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa02/02/1702/02/17151Genomicunknown
ss2710672127ILLUMINA|Consortium-OncoArray_15047405_A_rs11591147-131_B_F_1885467675fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa03/22/1703/22/17151Genomicunknown
ss2731524802GNOMAD|exomes_rs11591147fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/17/1705/17/17151Genomicunknown
ss2746339741GNOMAD|coding_rs11591147fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/17/1705/17/17151Genomicunknown
ss2755160424GNOMAD|rs11591147fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/17/1705/17/17151Genomicunknown
ss2984859989AFFY|Axiom_PsorMich_Affx-11716015fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/24/1705/24/17151Genomicunknown
ss2985508556AFFY|Axiom_Smokesc1_Affx-11716015fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/24/1705/24/17151Genomicunknown
ss2986818862SWEGEN|NC_000001.10:g.55505647G>Tfwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa05/30/1705/30/17151Genomicunknown
ss3021088277ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm62588-0_B_F_1921344525fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa06/28/1706/28/17151Genomicunknown
ss3076672698TOPMED|TOPMed_freeze_5?chr1:55,039,974fwd/G/Ttacgaggagctggtgctagccttgcttccgaggaggacggcctggccgaa09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11591147|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 TCCCAGCTCC CAGCCAGGAT TCCGCGCGCC CCTTCACGCG CCCTGCTCCT GAACTTCAGC
 TCCTGCACAG TCCTCCCCAC CGCAAGGCTC AAGGCGCCGC CGGCGTGGAC CGCGCACGGC
 CTCTAGGTCT CCTCGCCAGG ACAGCAACCT CTCCCCTGGC CCTCATGGGC ACCGTCAGCT
 CCAGGCGGTC CTGGTGGCCG CTGCCACTGC TGCTGCTGCT GCTGCTGCTC CTGGGTCCCG
 CGGGCGCCCG TGCGCAGGAG GACGAGGACG GCGACTACGA GGAGCTGGTG CTAGCCTTGC
 D
 TTCCGAGGAG GACGGCCTGG CCGAAGCACC CGAGCACGGA ACCACAGCCA CCTTCCACCG
 CTGCGCCAAG GTGCGGGTGT AGGGGTGGGA GGCCGGGGCG AACCCGCAGC CGGGACGGTG
 CGGTGCTGTT TCCTCTCGGG CCTCAGTTTC CCCCCATGTA AGAGAGGAAG TGGAGTGCAG
 GTCGCCGAGG GCTCTTCGCT TGGCACGATC TTGAGGACTG CAGGCAAGGC GGCGGGGGAG
 GACGGGTAGT GGGGAGCACG GTGGAGAGCG GGGACGGCCG GCTCTTTGGG GACTTGCTGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_032977
dbSNP Blast Analysis
UniGene Cluster ID
18844
3D structure mapping
NP_777596  
OMIM
607786.0006

  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
G/T
T/T
HWPG
T
ss107937127ABECASIS_CLINICAL_PANEL 736AF 0.964673940.03532609
ss1290895277EAS 1008AF 1.00000000
EUR 1006AF 0.979099990.02090000
AFR 1322AF 1.00000000
AMR 694AF 0.984099980.01590000
SAS 978AF 1.00000000
ss161260637ENSEMBL_celera 2IG 1.00000000 0.500000000.50000000
ss1685564958ExAc_Aggregated_Populations119636AF 0.991139770.00886021
ss341966456ESP_Cohort_Populations 3630GF0.979614320.019834710.000550960.099721000.989531700.01046832
ss35032046PGA-AFRICAN-PANELAfrican American 48IG1.00000000 1.00000000
AD-PANELAfrican American 48IG1.00000000 1.00000000
ED-PANELEuropean 46IG0.956521750.04347826 1.000000000.978260870.02173913
ss44113225HapMap-CEUEuropean 218IG0.944954160.05504587 1.000000000.972477080.02752294
HapMap-HCBAsian 88IG1.00000000 1.00000000
HapMap-JPTAsian 86IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
HAPMAP-CHD 170IG0.964705880.03529412 1.000000000.982352910.01764706
HAPMAP-GIH 174IG0.988505720.01149425 1.000000000.994252860.00574713
HAPMAP-LWK 174IG0.988505720.01149425 1.000000000.994252860.00574713
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.043+/-0.1410000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNYES

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