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Reference SNP (refSNP) Cluster Report: rs79050330                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0006/77 (ExAC)
T=0.0018/9 (1000 Genomes)
T=0.0008/10 (GO-ESP)
T=0.0010/131 (TOPMED)
HGVS Names
  • CM000670.2:g.18400581C>T
  • NC_000008.10:g.18258091C>T
  • NC_000008.11:g.18400581C>T
  • NG_012246.1:g.14337C>T
  • NM_000015.2:c.578C>T
  • NP_000006.2:p.Thr193Met
  • XP_016868427.1:p.Thr193Met
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 ss342253609 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs79050330 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
ss2235763911000GENOMES|pilot_1_YRI_5386074_chr8_18302371fwd/C/Tagaagaaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagattttga04/22/1004/22/10132Genomicunknown
ss342253609NHLBI-ESP|ESP2500-chr8-18258091byFreqfwd/BC/Tagaagaaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagattttga03/25/1109/05/14134Genomicunknown
ss410878054ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_18302371fwd/BC/Tagaagaaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagattttga06/07/1106/07/11135Genomicunknown
ss482099465ILLUMINA|HumanOmni2.5-4v1_D_kgp20212284-0_B_F_1835068517fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat01/30/1210/28/16137Genomicunknown
ss485580720ILLUMINA|HumanOmni2.5-4v1_B_SNP8-18302371-0_B_F_1637165579fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat01/30/1210/29/16137Genomicunknown
ss4909607241000GENOMES|20110521_exome_468522_chr8_18258091fwd/BC/Tagaagaaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagattttga02/10/1202/21/12137Genomicunknown
ss491410762EXOME_CHIP|nonsyn_126988_chr_8_18258091fwd/BC/Tagaagaaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagattttga03/05/1203/05/12137Genomicunknown
ss507869072GOLDSTEINLAB|8_18302371_Tfwd/BC/Tagaagaaacaccaaaaaatatacttatttagcttgaacctcnaacaattgaagattttga04/06/1204/06/12137Genomicunknown
ss534499336ILLUMINA|HumanOmni5-4v1_B_kgp20212284-0_B_F_1835068517fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat06/22/1208/29/15146Genomicunknown
ss779114974ILLUMINA|HumanOmni25Exome-8v1_A_kgp20212284-0_B_F_1835068517fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat05/30/1307/10/15146Genomicunknown
ss780867826ILLUMINA|HumanOmni25Exome-8v1_A_exm685680-0_T_R_1922977132fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat05/30/1307/10/15146Genomicunknown
ss781648870ILLUMINA|HumanOmni2.5-4v1_H_kgp20212284-0_B_F_1835068517fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat05/30/1307/29/15146Genomicunknown
ss783552757ILLUMINA|HumanOmniExpressExome-8v1_A_exm685680-0_T_R_1922977132fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat05/31/1306/19/15146Genomicunknown
ss834579227ILLUMINA|HumanOmni2.5-8v1_A_kgp20212284-0_B_F_1835068517fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat09/18/1307/29/15146Genomicunknown
ss13288539101000GENOMES|PHASE3_V1_41164994fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat08/16/1408/16/14142Genomicunknown
ss1689107882EVA_EXAC|EVA_EXAC_4197303fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat03/04/1503/04/15144Genomicunknown
ss1946231112ILLUMINA|HumanCoreExome-12v1-0_C_exm685680-0_T_R_1922977132fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat10/29/1510/29/15147Genomicunknown
ss1946231113ILLUMINA|HumanCoreExome-12v1-0_C_kgp20212284-0_B_F_1835068517fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat10/29/1510/29/15147Genomicunknown
ss1959092406ILLUMINA|exm685680-0_T_R_1922977132fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat11/13/1511/13/15147Genomicunknown
ss1959092408ILLUMINA|kgp20212284-0_B_F_1835068517fwd/BC/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat11/13/1511/13/15147Genomicunknown
ss2301164558HUMAN_LONGEVITY|HLI-8-18400581-C-Tfwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat11/18/1611/18/16150Genomicunknown
ss2470822154TOPMED|8_18258091_C/Tfwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat11/20/1611/20/16150Genomicunknown
ss2634717905ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_exm685680-0_T_R_1922977132fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat02/02/1702/02/17151Genomicunknown
ss2634717906ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp20212284-0_B_F_18350685fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat02/02/1702/02/17151Genomicunknown
ss2711131675ILLUMINA|Consortium-OncoArray_15047405_A_kgp20212284-0_B_F_1835068517fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat03/22/1703/22/17151Genomicunknown
ss2737016722GNOMAD|exomes_rs79050330fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat05/17/1705/17/17151Genomicunknown
ss2748005944GNOMAD|coding_rs79050330fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat05/17/1705/17/17151Genomicunknown
ss2863932602GNOMAD|rs79050330fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat05/19/1705/19/17151Genomicunknown
ss3022824456ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm685680-0_T_R_1922977132fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat06/28/1706/28/17151Genomicunknown
ss3022824457ILLUMINA|MEGA_Consortium_v2_15070954_A2_kgp20212284-0_B_F_1835068517fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat06/28/1706/28/17151Genomicunknown
ss3555514758TOPMED|TOPMed_freeze_5?chr8:18,400,581fwd/C/Taaacaccaaaaaatatacttatttagcttgaacctcgaacaattgaagat10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs79050330|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 CTGCAGGTGA CCATTGACGG CAGGAATTAC ATTGTCGATG CTGGGTCTGG AAGCTCCTCC
 CAGATGTGGC AGCCTCTAGA ATTAATTTCT GGGAAGGATC AGCCTCAGGT GCCTTGCATT
 TTCTGCTTGA CAGAAGAGAG AGGAATCTGG TACCTGGACC AAATCAGGAG AGAGCAGTAT
 ATTACAAACA AAGAATTTCT TAATTCTCAT CTCCTGCCAA AGAAGAAACA CCAAAAAATA
 TACTTATTTA
 Y
 GCTTGAACCT CGAACAATTG AAGATTTTGA GTCTATGAAT ACATACCTGC AGACGTCTCC
 AACATCTTCA TTTATAACCA CATCATTTTG TTCCTTGCAG ACCCCAGAAG GGGTTTACTG
 TTTGGTGGGC TTCATCCTCA CCTATAGAAA ATTCAATTAT AAAGACAATA CAGATCTGGT
 CGAGTTTAAA ACTCTCACTG AGGAAGAGGT TGAAGAAGTG CTGAGAAATA TATTTAAGAT
 TTCCTTGGGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008
dbSNP Blast Analysis
3D structure mapping
NP_000006  

  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.
SourceC/C
C/T
T/T
HWPC
T
ss1328853910EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.995500030.00450000
AMR 694AF 1.00000000
SAS 978AF 0.996900020.00310000
ss1689107882ExAc_Aggregated_Populations121408AF 0.999357520.00064246
ss223576391pilot_1_YRI_low_coverage_panel 118AF 0.983050820.01694915
ss342253609ESP_Cohort_Populations 4218GF0.998577540.00142248 1.000000000.999288740.00071124

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0250000

  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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