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Reference SNP (refSNP) Cluster Report: rs41467747                 
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:C/T (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0687/344 (1000 Genomes)
A=0.0401/5039 (TOPMED)
HGVS Names
  • CM000667.2:g.150113144G>A
  • NC_000005.10:g.150113144G>A
  • NC_000005.9:g.149492707G>A
  • NG_012303.1:g.5229C>T
  • NG_023367.1:g.47716C>T
  • NM_005211.3:c.-181+117C>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 ss278528545 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs41467747 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
ss66537241SHGC|453fwd/BC/Tacggctgcagcatctcaggggttgtggggcggcatgagtcataggctctcctgccgagcc11/01/0611/01/06127Genomicunknown
ss2117353851000GENOMES|YRI.trio.3.2010_556864_chr5_149472900rev/TA/Gggctcggcaggagagcctatgactcatgccgccccacaacccctgagatgctgcagccgt03/29/1003/30/10132Genomicunknown
ss2403091691000GENOMES|pilot_1_CHB+JPT_2194246_chr5_149472900rev/A/Gggctcggcaggagagcctatgactcatgccgccccacaacccctgagatgctgcagccgt05/01/1005/01/10132Genomicunknown
ss278528545GMI|GMI_AK_SNP_2848784rev/A/Gggctcggcaggagagcctatgactcatgccgccccacaacccctgagatgctgcagccgt12/16/1012/16/10137Genomicunknown
ss558791401TISHKOFF|snp_chr5_149492707rev/TA/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca11/22/1211/23/12138Genomicunknown
ss652695301SSMP|5_149492707rev/TA/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca12/14/1202/11/15138Genomicunknown
ss982253795EVA-GONL|EVA-GONL_rs41467747rev/TA/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca04/23/1404/24/14142Genomicunknown
ss13177295071000GENOMES|PHASE3_V1_29579792rev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca08/16/1408/16/14142Genomicunknown
ss1591786571EVA_DECODE|EVA_DECODE_5_149472900_1117276_rs41467747rev/TA/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca03/02/1503/03/15144Genomicunknown
ss1614287891EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_5_149492707_16373377rev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca03/04/1503/04/15144Genomicunknown
ss1657281924EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_5_149492707_16373377rev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca03/04/1503/04/15144Genomicunknown
ss1804136308HAMMER_LAB|Hsieh_3145221rev/TA/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca07/15/1507/15/15146Genomicunknown
ss1925507729WEILL_CORNELL_DGM|SNV:chr5:149492707rev/TA/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca10/16/1510/17/15147Genomicunknown
ss2151520225USC_VALOUEV|NC_000005.9:g.149492707G>Arev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca11/17/1611/17/16150Genomicunknown
ss2279232017HUMAN_LONGEVITY|HLI-5-150113144-G-Arev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca11/18/1611/18/16150Genomicunknown
ss2447550852TOPMED|5_149492707_G/Arev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca11/20/1611/20/16150Genomicunknown
ss2707089951GRF|rs41467747rev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca02/13/1702/13/17151Genomicunknown
ss2832248556GNOMAD|rs41467747rev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca05/18/1705/18/17151Genomicunknown
ss2997996982SWEGEN|NC_000005.9:g.149492707G>Arev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca05/30/1705/30/17151Genomicunknown
ss3482057681TOPMED|TOPMed_freeze_5?chr5:150,113,144rev/A/Gggcaggagagcctatgactcatgccgccccacaacccctgagatgctgca10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs41467747|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TCCCAAGGTG GGAAGCGAGC AGGCTTTTCT GGCTCCACAG AGCCTGGCCT TGAGTCGGGC
 AGGAGGGTGT GGGGCTGCAG GGCTGCTCCA AGGCTCTGGT GCTGAGGCGT CTCACTGCCT
 CCACCATGTG CTTTGGCTTT GGCTATCAGC TGGGACACCC TCCCCTCCAC TCCGCCCACA
 GGCCCGGATT GAGGCCGGCG TGCTCTGTGA CAGGCAGCTG CTAGAGCCCA GATTCCAGGT
 CCAGGTGAGT CATGATCAGG CCCCAGGTAG GAGAAGGGCA GACAGAGTGT CCAAAAGCGT
 GAGAGCACGA AGTGAGGAGA AGGTGGAGAA GAGAGAAGAG GAAGAGGAAG AGGAAGAGAG
 GAAGCGGAGG GAACTGCGGC CAGGGTAAGG ACAGGGGAGG GAATAGGGTG GCGACCAGGC
 TGTGGCTTTG AGGGCAGAGA GGTGTAGACC TGGCAGGACC CAGACCCCTC ACGGCTGCAG
 CATCTCAGGG GTTGTGGGGC
 Y
 GGCATGAGTC ATAGGCTCTC CTGCCGAGCC CAGGCCTGTG GGACCCCGGC AGCAACACAG
 GGCCAGGGGC AATAGGGTTG CTGGGGGCAG GGGACAGAGT GCTAGGGCCC TCCCACCTGG
 GCCCAGAGTC CTGTACTTGG CTCACTTGAG GTGGACCAGA TGTCAGCCTC AGATCCATCA
 CTGTGTGTCC TTAGCCCCTC CCTTGCTCTC TCTGAGCTGG GGAAACGGCA TCTTCATTTG
 AGTGGGTGCG GGAAGGACCT CATTTTGGAA CCACAGGCCT CCCTGGACTG CCTCCAGGAG
 TCTGGGGCTG TGGCTTCAAG TGGGGAAAAG AATGGAGCCA TGGGACAGCT CTGACTCACA
 GGCCCAGCCG CCAACTCAGG GGCAGCTGAG CCACACCAGG GAAAATACCC GACGGCTATA
 AGGCCTGGCC ATACAAAGCC CACCATCCCA GGGATCCTGG CTTCAGAAAA CACCCAGAGC
 CTGTGACTTC TCTTCTAGCT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NM_005211.2
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs41467747 allele is reverse to the genome back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1317729507EAS 1008AF 0.790699960.20930000
EUR 1006AF 0.989099980.01090000
AFR 1322AF 0.923599960.07640000
AMR 694AF 0.991400000.00860000
SAS 978AF 0.984700020.01530000
ss240309169pilot_1_CHB+JPT_low_coverage_panel 120AF 0.758333330.24166666
ss66537241R24 26AF 0.959999980.04000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.128+/-0.2180000

  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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