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Reference SNP(refSNP) Cluster Report: rs4522986                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/137
Map to Genome Build:37.4
Validation Status:byFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T
Allele Origin:
Ancestral Allele:T
Clinical Channel:unknown
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.403/879
MAF Source:1000 Genomes
HGVS Names
NC_000005.9:g.137642027G>T
NM_001790.3:c.615+12881C>A
NM_022809.2:c.396+12881C>A
NT_034772.6:g.45955899G>T
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' or 'Contig Pos' column value to see variation in NCBI sequence viewer) back to top

  GeneView back to top

  Submitter records for this RefSNP Cluster back to top
The submission ss278498936 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4522986 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
ss6099134SC_JCM|NT_016714.10_2883691fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa01/10/0310/10/03111Genomicunknown
ss10207981BCM_SSAHASNP|chr5.NT_034772.4_40057048byFreqfwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa06/27/0310/25/06116Genomicunknown
ss11712748WI_SSAHASNP|chr5.NT_034772.4_40057048fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa07/03/0310/10/03116Genomicunknown
ss42543446ABI|hCV30516fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa07/18/0507/18/05126Genomicunknown
ss93266563BCMHGSC_JDW|JWB-2046175fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa02/26/0803/04/08129Genomicunknown
ss98769021HUMANGENOME_JCVI|1103654235949fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa04/01/0804/01/08130Genomicunknown
ss1094536011000GENOMES|CEU.trio.12.15.2008_1372695_chr5_137669926fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa12/16/0812/16/08130Genomicunknown
ss143477470ENSEMBL|ENSSNP12925002fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa06/05/0906/06/09131Genomicunknown
ss143976339ENSEMBL|ENSSNP8768758fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa12/08/0810/20/09131Genomicunknown
ss162704796COMPLETE_GENOMICS|NA07022_36_chr5_137669926fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa09/28/0909/29/09132Genomicunknown
ss167132989COMPLETE_GENOMICS|NA20431_36_chr5_137669926fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa09/30/0909/30/09132Genomicunknown
ss200923330BUSHMAN|BUSHMAN-chr5-137669925fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa02/16/1003/07/10132Genomicunknown
ss2219916161000GENOMES|pilot_1_YRI_3801299_chr5_137669926fwd/G/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa04/22/1004/22/10132Genomicunknown
ss2331673801000GENOMES|pilot_1_CEU_2772009_chr5_137669926fwd/G/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa05/01/1005/01/10132Genomicunknown
ss2402848001000GENOMES|pilot_1_CHB+JPT_2169877_chr5_137669926fwd/G/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa05/01/1005/01/10132Genomicunknown
ss253840470BL|SNP138773_5_137669926fwd/BG/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa08/18/1008/19/10134Genomicunknown
ss278498936GMI|GMI_AK_SNP_2819175fwd/G/Tttttgttcaccatcgtatcaccagtgcctacacacttcccaacatgtagcaagtactcaa12/16/1012/16/10137Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4522986|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=137
 TTCCATGCCC TTGTGACCAA CTAGATATTC CTGCCTGGGA TTTTCAACCT TAAAGAAGCT
 CAAAAAGCAA AGGGTTGGTC CAGACTTTTT ATGGTGGCTG CATCACAGTA GAGAATATAC
 TAGGTGGTAG CAAATATCCA TGAGCAGCAC AGTCTATCTA GCAGCAAGCC TGATCATGTT
 CCATGGCAGG GTGCCAGTAA CGGTGGCATT GAGTGTCTAG CCAGCAAGTG GTGGCATCCT
 GAGCTCAATG TTCCTGGAAT AGTATTTTGG CTGGGCCTTA CTTTGTTTTC CAGCCTTCCT
 TGTAATTCTG AGTTCCTCAG TACCCTCCAG AAAAATCCCT TTTCTGCTTG AGGAAACTAG
 AATCAGTTTC TATTATTTGC AACCAAGAAC TCTAACTAGA ATATCTATTA ACTTGAAAAA
 AATTTTTGTT GTTTTGATGC ATCCCTGACA AGAATATAAA TTCTAGTCTG TTTTGTTCAC
 CATCGTATCA CCAGTGCCTA
 K
 CACACTTCCC AACATGTAGC AAGTACTCAA TAAATATTTT TTAAGTAAAG AAATGAATGA
 AAAATCACTA AGGTTACGAC AATCTCCAAG GAGGTCACTG CTTTATACAA GTATCTATTT
 ATTTCCGTTT ATTATTATTA TTATTATTAT ATTTTGAGAC AGGGTCTCAC TCTGTCACCC
 AGGCAGGAGT GCAGTGGCGC AATCTCGGCT CCCTGCAACC TCCACCTCCC GGGTTCAAGC
 AATTCTCCTG CCTCAGCCTC CCAAGTAGCT GAGATTACAG GTGCATACCA CCATGCCCAG
 CTAATTTGTG TATTTTTAGT AAAGACGGGG TTTCATCATG TTGGCCAGGC TGGTCTCAAA
 TTCCTGACCT CAGGTGATCT GCCCACCTCA GCCTCCCAAA GTGCTGGGAT TACAGGCGTG
 AGCCAATGTG CCTGGCCTAT TTTTTTTTTT TCCATTTAAC ATCAAAGAGG TAAAACAGTA
 ACAAAAAAAA ATCCCTATTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_034772 ABBA01068685
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss10207981HapMap-HCBAsian 86IG 0.605 0.279 0.116 0.100 0.744 0.256
HapMap-JPTAsian 72IG 0.389 0.444 0.167 0.752 0.611 0.389
HapMap-YRISub-Saharan African 104IG 0.673 0.288 0.038 1.000 0.817 0.183
ss143477470ENSEMBL_Watson 2IG 1.000 0.500 0.500
ss143976339ENSEMBL_Venter 2IG 1.000 0.500 0.500
ss162704796CEUEuropean 2IG 1.000 0.500 0.500
ss167132989PGP 2IG 1.000 0.500 0.500
ss200923330BUSHMAN_POP2 2IG 1.000 0.500 0.500
ss221991616pilot_1_YRI_low_coverage_panel 118AF 0.780 0.220
ss233167380pilot_1_CEU_low_coverage_panel 120AF 0.458 0.542
ss240284800pilot_1_CHB+JPT_low_coverage_panel 120AF 0.708 0.292
ss98769021J. Craig Venter 2IG 1.000 0.500 0.500

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
-1.000+/-035729900

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

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