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Reference SNP (refSNP) Cluster Report: rs149881695                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
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:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:T=0.0023/276 (ExAC)
T=0.0014/7 (1000 Genomes)
T=0.0016/20 (GO-ESP)
T=0.0019/241 (TOPMED)
HGVS Names
  • CM000664.2:g.151569306C>T
  • NC_000002.11:g.152425820C>T
  • NC_000002.12:g.151569306C>T
  • NG_009382.2:g.170182G>A
  • NM_001164507.1:c.17497G>A
  • NM_001164508.1:c.17497G>A
  • NM_001271208.1:c.17497G>A
  • NM_004543.3:c.12394G>A
  • NM_004543.4:c.12394G>A
  • NP_001157979.1:p.Val5833Ile
  • NP_001157980.1:p.Val5833Ile
  • NP_001258137.1:p.Val5833Ile
  • NP_004534.2:p.Val4132Ile
  • XP_005246647.1:p.Val5833Ile
  • XP_005246648.1:p.Val5833Ile
  • XP_005246649.1:p.Val5833Ile
  • XP_005246650.1:p.Val5833Ile
  • XP_005246651.1:p.Val5833Ile
  • XP_005246652.1:p.Val5833Ile
  • XP_005246653.1:p.Val5833Ile
  • XP_005246654.1:p.Val5833Ile
  • XP_005246655.1:p.Val5833Ile
  • XP_005246656.1:p.Val5833Ile
  • XP_005246657.1:p.Val5833Ile
  • XP_005246658.1:p.Val5833Ile
  • XP_005246659.1:p.Val5833Ile
  • XP_005246660.1:p.Val5833Ile
  • XP_005246661.1:p.Val5833Ile
  • XP_005246662.1:p.Val5833Ile
  • XP_005246663.1:p.Val5833Ile
  • XP_005246664.1:p.Val5833Ile
  • XP_005246665.1:p.Val5833Ile
  • XP_005246666.1:p.Val5833Ile
  • XP_005246667.1:p.Val5833Ile
  • XP_005246668.1:p.Val5833Ile
  • XP_005246669.1:p.Val5590Ile
  • XP_005246670.1:p.Val5590Ile
  • XP_005246671.1:p.Val5833Ile
  • XP_005246672.1:p.Val5833Ile
  • XP_005246673.1:p.Val5833Ile
  • XP_005246674.1:p.Val4861Ile
  • XP_005246675.1:p.Val2531Ile
  • XP_006712604.1:p.Val5833Ile
  • XP_006712605.1:p.Val5833Ile
  • XP_011509527.1:p.Val5833Ile
  • XP_011509528.1:p.Val5104Ile
  • XP_011509529.1:p.Val4375Ile
  • XP_016859666.1:p.Val5833Ile
  • XP_016859667.1:p.Val5833Ile
  • XP_016859668.1:p.Val5833Ile
  • XP_016859669.1:p.Val5833Ile
  • XP_016859670.1:p.Val5833Ile
  • XP_016859671.1:p.Val5833Ile
  • XP_016859672.1:p.Val5833Ile
  • XP_016859673.1:p.Val5833Ile
  • XP_016859674.1:p.Val5833Ile
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 ss489835084 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs149881695 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
ss3300527401000GENOMES|20100804_snps_1696276_chr2_152425820fwd/C/Tagatgtccgcggcatgtttggcatgattgaggacacggagtcatttggcatccacccaat03/22/1103/22/11134Genomicunknown
ss4898350841000GENOMES|20110521_exome_351001_chr2_152425820fwd/BC/Tagatgtccgcggcatgtttggcatgattgaggacacggagtcatttggcatccacccaat02/10/1202/21/12137Genomicunknown
ss491325364EXOME_CHIP|nonsyn_41591_chr_2_152425820fwd/BC/Tagatgtccgcggcatgtttggcatgattgaggacacggagtcatttggcatccacccaat03/05/1203/05/12137Genomicunknown
ss535486156ILLUMINA|HumanOmni5-4v1_B_kgp3966287-0_B_F_1907264162fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac06/22/1208/28/15146Genomicunknown
ss712445846NHLBI-ESP|ESP6500SI-chr2-152425820fwd/BC/Tagatgtccgcggcatgtttggcatgattgaggacacggagtcatttggcatccacccaat02/20/1302/20/13138Genomicunknown
ss780805359ILLUMINA|HumanOmni25Exome-8v1_A_exm232951-0_T_R_1918982072fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac05/30/1307/09/15146Genomicunknown
ss783487001ILLUMINA|HumanOmniExpressExome-8v1_A_exm232951-0_T_R_1918982072fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac05/31/1306/19/15146Genomicunknown
ss977503743EVA-GONL|EVA-GONL_rs149881695fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac04/23/1404/23/14142Genomicunknown
ss12998937891000GENOMES|PHASE3_V1_10986551fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac08/16/1408/16/14142Genomicunknown
ss1586936066EVA_DECODE|EVA_DECODE_2_152134066_1137978_rs149881695fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac03/02/1503/03/15144Genomicunknown
ss1604862250EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_152425820_6024384fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac03/04/1503/04/15144Genomicunknown
ss1647856283EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_152425820_6024384fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac03/04/1503/04/15144Genomicunknown
ss1686542618EVA_EXAC|EVA_EXAC_1427812fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac03/04/1503/04/15144Genomicunknown
ss1710983110EVA_MGP|EVA_XIMO_99649fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac03/09/1503/09/15144Genomicunknown
ss1752316980ILLUMINA|OmniExpressExome-8v1-1_B_exm232951-0_T_R_1918982072fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac05/27/1506/09/15146Genomicunknown
ss1917754523ILLUMINA|HumanExome-12v1-1_B_exm232951-0_T_R_1918982072fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac10/16/1510/16/15147Genomicunknown
ss1920761538WEILL_CORNELL_DGM|SNV:chr2:152425820fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac10/16/1510/16/15147Genomicunknown
ss1946054677ILLUMINA|HumanCoreExome-12v1-0_C_exm232951-0_T_R_1918982072fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac10/29/1510/29/15147Genomicunknown
ss1958468567ILLUMINA|exm232951-0_T_R_1918982072fwd/BC/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac11/13/1511/13/15147Genomicunknown
ss2235456388HUMAN_LONGEVITY|HLI-2-151569306-C-Tfwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac11/18/1611/18/16150Genomicunknown
ss2401842395TOPMED|2_152425820_C/Tfwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac11/19/1611/19/16150Genomicunknown
ss2710914541ILLUMINA|Consortium-OncoArray_15047405_A_exm232951-0_T_R_1918982072fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac03/22/1703/22/17151Genomicunknown
ss2733030434GNOMAD|exomes_rs149881695fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac05/17/1705/17/17151Genomicunknown
ss2746792737GNOMAD|coding_rs149881695fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac05/17/1705/17/17151Genomicunknown
ss2781274367GNOMAD|rs149881695fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac05/17/1705/17/17151Genomicunknown
ss2985187643AFFY|Axiom_PsorMich_Affx-52214918fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac05/24/1705/24/17151Genomicunknown
ss2990649061SWEGEN|NC_000002.11:g.152425820C>Tfwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac05/30/1705/30/17151Genomicunknown
ss3022028456ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm232951-0_T_R_1918982072fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac06/28/1706/28/17151Genomicunknown
ss3326715664TOPMED|TOPMed_freeze_5?chr2:151,569,306fwd/C/Ttccgcggcatgtttggcatgattgaggacacggagtcatttggcatccac10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs149881695|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 ATGTGATAGC GACAGTACAT TTTGAAAAAT ATATATGCTC AGTTTAAATC ACAGCAATTG
 AAATGGTTAA GATTGCTGAT ATTAGATGAC TATATTTTAG CTTGTGCATT TTGTCACTTT
 CTTGGGAAAT GTACTGAATG TCAGGGTAAA ATCTTGGAAT ACCTCACTGA AGATGTCCGC
 GGCATGTTTG GCATGATTGA
 Y
 GGACACGGAG TCATTTGGCA TCCACCCAAT TCCACGCAAC CATTCCAAGT CAGCCTTGTA
 AACATTCTGT GAAAACAGGG CCAGAATGAG TTCAGCAACC CTGGTCATGT GGTCCTAGTT
 AGCCTATCCA TTGGTCTCAT GAAGAAATAC AATGTAAATG CTATATAAGC CAAGGAGGAC
 ATACTCAAGC AGCCACGCAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000002
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1299893789EAS 1008AF 1.00000000
EUR 1006AF 0.995999990.00400000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 0.996900020.00310000
ss1686542618ExAc_Aggregated_Populations120914AF 0.997717380.00228261

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.005+/-0.0480000

  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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