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Reference SNP (refSNP) Cluster Report: rs41269549                 ** With Uncertain significance allele **
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/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:A=0.0023/273 (ExAC)
A=0.0012/6 (1000 Genomes)
A=0.0026/34 (GO-ESP)
A=0.0019/236 (TOPMED)
HGVS Names
  • CM000666.2:g.5731590G>A
  • NC_000004.11:g.5733317G>A
  • NC_000004.12:g.5731590G>A
  • NG_008843.1:g.25394G>A
  • NM_001306090.1:c.550G>A
  • NM_001306092.1:c.550G>A
  • NM_153717.2:c.550G>A
  • NP_001293019.1:p.Asp184Asn
  • NP_001293021.1:p.Asp184Asn
  • NP_714928.1:p.Asp184Asn
  • XP_005248009.1:p.Asp184Asn
  • XP_006713928.1:p.Asp184Asn
  • XP_006713929.1:p.Asp184Asn
  • XP_011511721.1:p.Asp184Asn
  • XP_016863372.1:p.Asp184Asn
  • XR_001741164.1:n.730G>A
  • XR_001741165.1:n.730G>A
  • XR_001741166.1:n.730G>A
  • XR_001741167.1:n.730G>A
  • XR_001741168.1:n.730G>A
  • XR_001741169.1:n.731G>A
  • XR_001741170.1:n.732G>A
  • XR_427473.3:n.730G>A
  • XR_427475.3:n.730G>A
  • XR_427476.3:n.730G>A
  • XR_924920.2:n.730G>A
  • XR_924921.2:n.730G>A
  • XR_924922.2:n.730G>A
  • XR_924924.2:n.730G>A
  • XR_924925.2:n.730G>A
  • XR_924926.2:n.730G>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 ss52054954 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41269549 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
ss52054954SI_EXO|NT_006051.17_1820762fwd/TA/Gtcctcatccagcgtccactcggccaccagcatgacaggtttctcagccgcaccttcctcc03/29/0603/29/06127Genomicunknown
ss342159009NHLBI-ESP|ESP2500-chr4-5733317byFreqfwd/TA/Gtcctcatccagcgtccactcggccaccagcatgacaggtttctcagccgcaccttcctcc03/25/1109/05/14134Genomicunknown
ss4887815621000GENOMES|20110521_exome_66588_chr4_5733317fwd/TA/Gtcctcatccagcgtccactcggccaccagcatgacaggtttctcagccgcaccttcctcc02/10/1202/13/12137Genomicunknown
ss491353117EXOME_CHIP|nonsyn_69344_chr_4_5733317fwd/TA/Gtcctcatccagcgtccactcggccaccagcatgacaggtttctcagccgcaccttcctcc03/05/1203/05/12137Genomicunknown
ss491850878CLINSEQ_SNP|SNV-chr4-5784218byFreqfwd/TA/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt03/06/1209/05/14137Genomicunknown
ss780826741ILLUMINA|HumanOmni25Exome-8v1_A_exm385823-0_B_R_1923130930fwd/TA/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt05/30/1307/09/15146Genomicunknown
ss783509496ILLUMINA|HumanOmniExpressExome-8v1_A_exm385823-0_B_R_1923130930fwd/TA/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt05/31/1306/19/15146Genomicunknown
ss979710942EVA-GONL|EVA-GONL_rs41269549fwd/TA/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt04/23/1404/24/14142Genomicunknown
ss13082363031000GENOMES|PHASE3_V1_19679366fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt08/16/1408/16/14142Genomicunknown
ss1609307446EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_4_5733317_10906104fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt03/04/1503/04/15144Genomicunknown
ss1652301479EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_4_5733317_10906104fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt03/04/1503/04/15144Genomicunknown
ss1687413452EVA_EXAC|EVA_EXAC_2367244fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt03/04/1503/04/15144Genomicunknown
ss1711051354EVA_MGP|EVA_XIMO_167114fwd/TA/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt03/09/1503/09/15144Genomicunknown
ss1752526112ILLUMINA|OmniExpressExome-8v1-1_B_exm385823-0_B_R_1923130930fwd/TA/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt05/27/1506/09/15146Genomicunknown
ss1917778178ILLUMINA|HumanExome-12v1-1_B_exm385823-0_B_R_1923130930fwd/TA/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt10/16/1510/16/15147Genomicunknown
ss1946108920ILLUMINA|HumanCoreExome-12v1-0_C_exm385823-0_B_R_1923130930fwd/TA/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt10/29/1510/29/15147Genomicunknown
ss1958655526ILLUMINA|exm385823-0_B_R_1923130930fwd/TA/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt11/13/1511/13/15147Genomicunknown
ss2150155291USC_VALOUEV|NC_000004.11:g.5733317G>Afwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt11/17/1611/17/16150Genomicunknown
ss2260083438HUMAN_LONGEVITY|HLI-4-5731590-G-Afwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt11/18/1611/18/16150Genomicunknown
ss2427517590TOPMED|4_5733317_G/Afwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt11/20/1611/20/16150Genomicunknown
ss2734382737GNOMAD|exomes_rs41269549fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt05/17/1705/17/17151Genomicunknown
ss2747198992GNOMAD|coding_rs41269549fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt05/17/1705/17/17151Genomicunknown
ss2805102987GNOMAD|rs41269549fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt05/18/1705/18/17151Genomicunknown
ss2985284385AFFY|Axiom_PsorMich_Affx-24696133fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt05/24/1705/24/17151Genomicunknown
ss2994056594SWEGEN|NC_000004.11:g.5733317G>Afwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt05/30/1705/30/17151Genomicunknown
ss3022341853ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm385823-0_B_R_1923130930fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt06/28/1706/28/17151Genomicunknown
ss3419143202TOPMED|TOPMed_freeze_5?chr4:5,731,590fwd/A/Gatccagcgtccactcggccaccagcatgacaggtttctcagccgcacctt10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs41269549|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TGGTGCAGAG GGGCTGGCCT TGTGAGGACA AGTGAACTGT GATTCGGGCC TCTGGGCTGT
 CGATGTGGCA GAACCTGGGA CGGAAACTCT GTGGTGTCTG CTGGCACCCT GGCCAGTCTC
 CTCCAGGCAG ACCTTCCTGT GAGCGGCTAG CGTGAATCAC TGGTAGAATT ATGAATACTA
 GATCAAATCC CAGAGGCATC ACATGGACTG AGTGTGACTC CTACTGCCAC CCCAGCCTCT
 GGCCGATGGC TCCTCCAACC CGTCTCTGCA TGAAAACTTA AAGCAGGCTG TTTTGCCACA
 CCAGCCGGTA GAGGCCTCTC CTTCCAGCAG TCTGGGGAGC CTGAGCCAGG GTGAGAAGGA
 CGACTGCAGC TCCTCATCCA GCGTCCACTC GGCCACCAGC
 R
 ATGACAGGTT TCTCAGCCGC ACCTTCCTCC GGGTGAACGC CTTCCCTGAA GTGCTGGCCT
 GCGAGAGGTA AGGAGAGCGG GCAATGGAGG ATGAGGCTTC CAGTCCTCTT GGAGTGGGCC
 GGGAGTCACA TCATTGTCAG AGGAGGAAAC AGAGGCCCAG AGAGGTTCAG TGACTCTGCC
 AGGGACACAC AGCGACCCAG CGTCACCATC GGAGCCCCAG AGGCCTTTGT CACTTCCTGT
 GCTGTATTGC CCAACACTGG GGTTATGGAG TCAGGCCTGA GCCCCGGGGA GAGATGACAG
 GGAGGCCTCA TTTAATCACT GGCGTGCTCC CAGCTACTGG CGAAGTTGAT TAAGTGGGTA
 CTTCTGAGTA CCGGGCAGAG TGCTAAGCAC TTTACAGGGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006051.17
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.
SourceA/A
A/G
G/G
HWPA
G
ss1308236303EAS 1008AF 0.001000000.99900001
EUR 1006AF 0.003000000.99699998
AFR 1322AF 0.000800000.99919999
AMR 694AF 1.00000000
SAS 978AF 0.001000000.99899995
ss1687413452ExAc_Aggregated_Populations121412AF 0.002248540.99775147
ss342159009ESP_Cohort_Populations 4552GF 0.005711780.994288211.000000000.002855890.99714410
ss491850878CSAgilent 1323GF 0.011000000.989000021.000000000.005500000.99449998

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.004+/-0.0470000

  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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