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Reference SNP (refSNP) Cluster Report: rs79761867                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/149
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:C:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:C=0.0002/24 (ExAC)
C=0.0003/4 (GO-ESP)
HGVS Names
  • NC_000006.11:g.80878662G>C
  • NC_000006.12:g.80168945G>C
  • NG_009775.1:g.67319G>C
  • NM_000056.4:c.548G>C
  • NM_001318975.1:c.338G>C
  • NM_183050.3:c.548G>C
  • NP_000047.1:p.Arg183Pro
  • NP_001305904.1:p.Arg113Pro
  • NP_898871.1:p.Arg183Pro
  • NR_134945.1:n.632G>C
  • XM_005248756.1:c.548G>C
  • XM_005248756.4:c.548G>C
  • XM_005248757.1:c.548G>C
  • XM_011536023.2:c.548G>C
  • XM_011536024.2:c.548G>C
  • XM_011536025.2:c.548G>C
  • XM_011536026.2:c.338G>C
  • XP_005248813.1:p.Arg183Pro
  • XP_005248814.1:p.Arg183Pro
  • XP_011534325.1:p.Arg183Pro
  • XP_011534326.1:p.Arg183Pro
  • XP_011534327.1:p.Arg183Pro
  • XP_011534328.1:p.Arg113Pro
  • XR_001743546.1:n.581G>C
  • XR_001743547.1:n.581G>C
  • XR_001743548.1:n.581G>C
  • XR_001743549.1:n.581G>C
Links , Linkout
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 ss342217250 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs79761867 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
ss161109547ILLUMINA|HumanOmni1-Quad_v1-0_B_VG06S28378-0_B_F_1569786597fwd/C/Gatctttttaactgtggaagcctcactatccgtccccttggggctgtgttggtcatggggc08/04/0910/05/09131Genomicunknown
ss288289212OMIM-CURATED-RECORDS|6409fwd/C/Gatctttttaactgtggaagcctcactatccgtccccttggggctgtgttggtcatggggc12/21/1007/06/12137Genomicunknown
ss342217250NHLBI-ESP|ESP2500-chr6-80878662byFreqfwd/C/Gatctttttaactgtggaagcctcactatccgtccccttggggctgtgttggtcatggggc03/25/1109/05/14134Genomicunknown
ss483026177ILLUMINA|HumanOmni1-Quad_v1-0_C_VG06S28378-0_B_F_1858975353fwd/C/Gtttaactgtggaagcctcactatccgtccccttggggctgtgttggtcat01/30/1208/28/15146Genomicunknown
ss491388728EXOME_CHIP|nonsyn_104954_chr_6_80878662fwd/C/Gatctttttaactgtggaagcctcactatccgtccccttggggctgtgttggtcatggggc03/05/1203/05/12137Genomicunknown
ss780851615ILLUMINA|HumanOmni25Exome-8v1_A_exm562759-0_B_F_1921965361fwd/C/Gtttaactgtggaagcctcactatccgtccccttggggctgtgttggtcat05/30/1307/09/15146Genomicunknown
ss783535501ILLUMINA|HumanOmniExpressExome-8v1_A_exm562759-0_B_F_1921965361fwd/C/Gtttaactgtggaagcctcactatccgtccccttggggctgtgttggtcat05/31/1306/19/15146Genomicunknown
ss787412353GENEREVIEWS|NM_183050.2:c.548G>Cfwd/C/Gatctttttaactgtggaagcctcactatccgtccccttggggctgtgttggtcatggggc06/06/1306/06/13137Genomicunknown
ss1688407434EVA_EXAC|EVA_EXAC_3442375fwd/C/Gtttaactgtggaagcctcactatccgtccccttggggctgtgttggtcat03/04/1503/04/15144Genomicunknown
ss1752649106ILLUMINA|OmniExpressExome-8v1-1_B_exm562759-0_B_F_1921965361fwd/C/Gtttaactgtggaagcctcactatccgtccccttggggctgtgttggtcat05/27/1506/09/15146Genomicunknown
ss1917808031ILLUMINA|HumanExome-12v1-1_B_exm562759-0_B_F_1921965361fwd/C/Gtttaactgtggaagcctcactatccgtccccttggggctgtgttggtcat10/16/1510/16/15147Genomicunknown
ss1946184005ILLUMINA|HumanCoreExome-12v1-0_C_exm562759-0_B_F_1921965361fwd/C/Gtttaactgtggaagcctcactatccgtccccttggggctgtgttggtcat10/29/1510/29/15147Genomicunknown
ss1958927507ILLUMINA|exm562759-0_B_F_1921965361fwd/C/Gtttaactgtggaagcctcactatccgtccccttggggctgtgttggtcat11/13/1511/13/15147Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs79761867|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=147
 AAAGAAAGGC AGGCAGGCAG GAAGGAAGGA AGGAAGAGGG GGAGGGAGGC AGGGAGGGAG
 GGAAAGACTC ATTGTGCCTT GGGAAGGGAA GGAAGGAAGG GAGGGAGGGA GGAAGAACGG
 AAGGAGATTG GAAGGGAAGG ACTCATTGTG CCATGCCCCG TCTTTCTTTC TGACCCTCAG
 ATTGTTAATG AAGCTGCCAA GTATCGCTAT CGCTCTGGGG ATCTTTTTAA CTGTGGAAGC
 CTCACTATCC
 S
 GTCCCCTTGG GGCTGTGTTG GTCATGGGGC TCTCTATCAT TCTCAGAGTC CTGAAGCATT
 TTTTGCCCAT TGCCCAGGAA TCAAGGTATG TTCATTTATG TACTTTATTT GATTTCTATT
 TGATGTTTCC ATTTTGATTC ATTCTATTTA ATATCTATGC TTATCTAGAG GAAAGAAAAC
 AAACAGGATT CTTGGAATTT ATGTGAACTT AACTGTATTT AAGAAGGGGA GGTTAGCAGT
 TCTTTTAAGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000006
dbSNP Blast Analysis
3D structure mapping
NP_000047  NP_898871  
OMIM
248611.0002

  Population Diversity (Alleles in RefSNP orientation) back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss1688407434ExAc_Aggregated_Populations121412AF 0.000197670.99980235
ss342217250ESP_Cohort_Populations 4550GF 0.000879120.999120891.000000000.000439560.99956042

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
byClusterbyFreqUNKNOWNUNKNOWNUNKNOWN

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