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dbSNP
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Reference SNP (refSNP) Cluster Report: rs148995812                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0004/23 (ExAC)
T=0.0002/1 (1000 Genomes)
A=0.00008/1 (GO-ESP)
T=0.0002/24 (TOPMED)
HGVS Names
  • CM000663.2:g.939291G>A
  • CM000663.2:g.939291G>C
  • CM000663.2:g.939291G>T
  • NC_000001.10:g.874671G>A
  • NC_000001.10:g.874671G>C
  • NC_000001.10:g.874671G>T
  • NC_000001.11:g.939291G>A
  • NC_000001.11:g.939291G>C
  • NC_000001.11:g.939291G>T
  • NM_152486.2:c.537G>A
  • NM_152486.2:c.537G>C
  • NM_152486.2:c.537G>T
  • NP_689699.2:p.Pro179=
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 ss341923372 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs148995812 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
ss341923372NHLBI-ESP|ESP2500-chr1-874671fwd/TA/Ggtcctccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccccggag03/25/1103/25/11134Genomicunknown
ss4875614461000GENOMES|20110521_exome_24_chr1_874671fwd/BG/Tgtcctccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccccggag02/10/1202/13/12137Genomicunknown
ss12893429741000GENOMES|PHASE3_V1_7894fwd/G/Tccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccc08/16/1408/16/14142Genomicunknown
ss1685217535EVA_EXAC|EVA_EXAC_761fwd/A/Gccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccc03/04/1503/04/15144Genomicunknown
ss1685217536EVA_EXAC|EVA_EXAC_762fwd/G/Tccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccc03/04/1503/04/15144Genomicunknown
ss1685217537EVA_EXAC|EVA_EXAC_763fwd/C/Gccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccc03/04/1503/04/15144Genomicunknown
ss2159371574HUMAN_LONGEVITY|HLI-1-939291-G-Tfwd/G/Tccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccc11/18/1611/18/16150Genomicunknown
ss2730987236GNOMAD|exomes_rs148995812fwd/A/C/G/Tccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccc05/17/1705/17/17151Genomicunknown
ss2746169573GNOMAD|coding_rs148995812fwd/G/Tccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccc05/17/1705/17/17151Genomicunknown
ss2750650549GNOMAD|rs148995812fwd/G/Tccccagcagaggcgctgctgctgcccgggagctggggcccagcatggccc05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs148995812|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 TGACCTGTTG GGCAAGAGGC TGGGCCGCTC CCCCCGTATC AGCAGCGACT GCTTTTCAGA
 GAAGAGGGCA CGAAGCGAAT CGCCTCAAGG TAAGAGCGTG GCTGGGACGA GAGACAGGTC
 ACCAGGGGAG GGGGCAGTCC CTGAGGGTCC CCTGGACCTC GAGCAGGCAC TCTAGAGGGG
 CGTGGTCCTC GGCAGTGCCT GGAGAAACCT CTCACCCCGG GTCCTCCCCA GCAGAGGCGC
 TGCTGCTGCC
 N
 CGGGAGCTGG GGCCCAGCAT GGCCCCGGAG GACCATTACC GCCGGCTTGT GTCAGCACTG
 AGCGAGGCCA GCACCTTTGA GGACCCTCAG CGCCTCTACC ACCTGGGCCT CCCCAGCCAC
 GGTGAGGACC CACCCTGGCA TGATCCCCCT CATCACCTCC CCAGCCACGG TGAGGACCCA
 CCCTGGCATG ATCTCCCCTC ATCACCTCCC CAGCCACATG TACTCGGCCA TTCCTGTTGC
 TGAGGCCCTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
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
C
G
T
ss1289342974EAS 1008AF 0.999000010.00100000
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685217535ExAc_Aggregated_Populations120923AF 0.00004962 0.99995041
ss1685217536ExAc_Aggregated_Populations120942AF 0.999793290.00020671
ss1685217537ExAc_Aggregated_Populations120919AF 0.000016540.99998349
ss341923372ESP_Cohort_Populations 2924GF 0.000683990.999315981.000000000.00034200 0.99965799

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0220000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN