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Reference SNP (refSNP) Cluster Report: rs76092830                 
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:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0002/24 (ExAC)
C=0.0004/2 (1000 Genomes)
C=0.0002/2 (GO-ESP)
C=0.0001/17 (TOPMED)
HGVS Names
  • CM000670.2:g.42757004T>C
  • NC_000008.10:g.42612147T>C
  • NC_000008.11:g.42757004T>C
  • NM_001199279.1:c.253A>G
  • NM_004198.3:c.298A>G
  • NP_001186208.1:p.Met85Val
  • NP_004189.1:p.Met100Val
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 ss491277425 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs76092830 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
ss161151700PERLEGEN|IVD00719797fwd/BC/Tcgcgaagagtctcaatgccatcatattccatggatcccagcgcaatttataatcattcca09/11/0909/11/09131Genomicunknown
ss4603766251000GENOMES|20101123_snps_6543855_chr8_42612147fwd/C/Tcgcgaagagtctcaatgccatcatattccatggatcccagcgcaatttataatcattcca07/20/1107/20/11135Genomicunknown
ss4909645661000GENOMES|20110521_exome_472364_chr8_42612147fwd/BC/Tcgcgaagagtctcaatgccatcatattccatggatcccagcgcaatttataatcattcca02/10/1202/21/12137Genomicunknown
ss491277425GSK-GENETICS|chr8_42731304fwd/BC/Tcgcgaagagtctcaatgccatcatattccatggatcccagcgcaatttataatcattcca03/02/1203/02/12137Genomicunknown
ss491413102EXOME_CHIP|nonsyn_129328_chr_8_42612147fwd/BC/Tcgcgaagagtctcaatgccatcatattccatggatcccagcgcaatttataatcattcca03/05/1203/05/12137Genomicunknown
ss712842252NHLBI-ESP|ESP6500SI-chr8-42612147fwd/BC/Tcgcgaagagtctcaatgccatcatattccatggatcccagcgcaatttataatcattcca02/20/1302/20/13138Genomicunknown
ss780869704ILLUMINA|HumanOmni25Exome-8v1_A_exm699019-0_B_F_1922989737fwd/BC/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca05/30/1307/10/15142Genomicunknown
ss783554734ILLUMINA|HumanOmniExpressExome-8v1_A_exm699019-0_B_F_1922989737fwd/BC/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca05/31/1306/19/15142Genomicunknown
ss13295860491000GENOMES|PHASE3_V1_41924866fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca08/16/1408/16/14142Genomicunknown
ss1620495186EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_42612147_23192897fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca03/04/1503/04/15144Genomicunknown
ss1663489219EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_42612147_23192897fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca03/04/1503/04/15144Genomicunknown
ss1689185055EVA_EXAC|EVA_EXAC_4280224fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca03/04/1503/04/15144Genomicunknown
ss1711199982EVA_MGP|EVA_XIMO_315742fwd/BC/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca03/09/1503/09/15144Genomicunknown
ss1752732697ILLUMINA|OmniExpressExome-8v1-1_B_exm699019-0_B_F_1922989737fwd/BC/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca05/27/1506/09/15146Genomicunknown
ss1917828282ILLUMINA|HumanExome-12v1-1_B_exm699019-0_B_F_1922989737fwd/BC/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca10/16/1510/16/15147Genomicunknown
ss1946235879ILLUMINA|HumanCoreExome-12v1-0_C_exm699019-0_B_F_1922989737fwd/BC/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca10/29/1510/29/15147Genomicunknown
ss1959106982ILLUMINA|exm699019-0_B_F_1922989737fwd/BC/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca11/13/1511/13/15147Genomicunknown
ss2302699236HUMAN_LONGEVITY|HLI-8-42757004-T-Cfwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca11/18/1611/18/16150Genomicunknown
ss2737137033GNOMAD|exomes_rs76092830fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca05/17/1705/17/17151Genomicunknown
ss2748042640GNOMAD|coding_rs76092830fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca05/17/1705/17/17151Genomicunknown
ss2865990913GNOMAD|rs76092830fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca05/19/1705/19/17151Genomicunknown
ss2985437786AFFY|Axiom_PsorMich_Affx-52289328fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca05/24/1705/24/17151Genomicunknown
ss2986081585AFFY|Axiom_Smokesc1_Affx-52289328fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca05/24/1705/24/17151Genomicunknown
ss3003069103SWEGEN|NC_000008.10:g.42612147T>Cfwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca05/30/1705/30/17151Genomicunknown
ss3022841365ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm699019-0_B_F_1922989737fwd/C/Tagagtctcaatgccatcatattccatggatcccagcgcaatttataatca06/28/1706/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs76092830|allelePos=252|totalLen=503|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GTCCAGGTTA TCATGCCATT GTATTTAAGA AGAGCTTTTG TTTTGCCTTC TACTTGGAAG
 TCACCAACAG CACTGCAAAG CAAGTCAGAC ACCATTAGTA ACACTCCCTT TGCTATAGGC
 CAGAATACAC CAACAGCAGC TTTGGAAAGA GGCTACGGTG GTCAGAGACC CATACTTGTT
 ATAGAGAACA ATGTCGGGCT TCCAAATCTT ATCTGCAGGA ACGCGAAGAG TCTCAATGCC
 ATCATATTCC A
 Y
 TGGATCCCAG CGCAATTTAT AATCATTCCA GATCTAAAAT AAATAGAAAT CAGCTTTTAA
 AATTTCTTAA TAACTTTCGG GCCAGGCATG GTGGCTCACG CCTGTAATCC CAGCACTTTG
 GGAGGCCGAG GCAGGCAGGT CACTTGAGGT CAGGAGGTCG AGACCAGCCT GGCCAGCATA
 GTGAAACCCC GTCTCTACTA AAAATACAAA AATTAGCCGG GTGTGGTGGC CAGCGCCTGT
 AGTCCCAACT A

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008.9
dbSNP Blast Analysis
3D structure mapping
NP_001186208  NP_004189  

  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
ss1329586049EAS 1008AF 0.002000000.99800003
EUR 1006AF 1.00000000
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss161151700PGI_05_PANEL 858GF 0.002331000.997668981.000000000.001165500.99883449
ss1689185055ExAc_Aggregated_Populations121412AF 0.000197670.99980235

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0140000

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