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Reference SNP (refSNP) Cluster Report: rs8176305                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:117/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:C=0.0321/161 (1000 Genomes)
C=0.0503/6311 (TOPMED)
HGVS Names
  • CM000679.2:g.43049347T>C
  • NC_000017.10:g.41201364T>C
  • NC_000017.11:g.43049347T>C
  • NG_005905.2:g.168637A>G
  • NM_007294.3:c.5333-153A>G
  • NM_007297.3:c.5192-153A>G
  • NM_007298.3:c.2021-153A>G
  • NM_007299.3:c.2021-1644A>G
  • NM_007300.3:c.5396-153A>G
  • NR_027676.1:n.5469-153A>G
  • U14680.1:c.5333-153A>G
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 ss8486436 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8176305 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
ss8486436EGP_SNPS|BRCA1-077034byFreqfwd/TA/Ggtggcaaattgacttaaaatccatacccctctattttaagaccattgtcctttggagcag04/22/0304/07/04117Genomicunknown
ss24587989PERLEGEN|afd0820093byFreqrev/BC/Tctgctccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaatttgccac08/10/0409/13/04123Genomicunknown
ss75043686ILLUMINA|ILMN_Human_1M_rs8176305fwd/TA/Ggtggcaaattgacttaaaatccatacccctctattttaagaccattgtcctttggagcag08/28/0708/29/07129Genomicunknown
ss76864406CGM_KYOTO|4464rev/BC/Tctgctccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaatttgccac09/12/0709/12/07129cDNAunknown
ss119586098KRIBB_YJKIM|KHS1748345fwd/TA/Ggtggcaaattgacttaaaatccatacccctctattttaagaccattgtcctttggagcag02/04/0902/05/09131Genomicunknown
ss160953530ILLUMINA|HumanOmni1-Quad_v1-0_B_rs8176305-128_T_F_1514019066fwd/TA/Ggtggcaaattgacttaaaatccatacccctctattttaagaccattgtcctttggagcag08/04/0910/05/09131Genomicunknown
ss174731791ILLUMINA|Human1M-Duov3_B_rs8176305-128_T_F_1514019066fwd/TA/Ggtggcaaattgacttaaaatccatacccctctattttaagaccattgtcctttggagcag10/01/0910/05/09132Genomicunknown
ss2372445811000GENOMES|pilot_1_CEU_6849210_chr17_38454890rev/C/Tctgctccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaatttgccac05/01/1005/01/10132Genomicunknown
ss481795507ILLUMINA|HumanOmni2.5-4v1_B_rs8176305-128_T_F_1782892122rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt01/30/1210/28/16137Genomicunknown
ss481827848ILLUMINA|HumanOmniExpress-12v1_C_rs8176305-131_T_F_1857512783rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt01/30/1210/27/16137Genomicunknown
ss482789237ILLUMINA|HumanOmni1-Quad_v1-0_C_rs8176305-131_T_F_1865389251rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt01/30/1208/28/15146Genomicunknown
ss485692388ILLUMINA|HumanOmni2.5-4v1_D_rs8176305-131_T_F_1857512783rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt01/30/1210/27/16137Genomicunknown
ss537559802ILLUMINA|HumanOmni5-4v1_B_rs8176305-131_T_F_1889647614rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt06/22/1208/29/15146Genomicunknown
ss661078370SSMP|17_41201364rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt12/14/1202/14/15138Genomicunknown
ss778999121ILLUMINA|HumanOmni25Exome-8v1_A_rs8176305-131_T_F_1865389251rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt05/30/1307/10/15146Genomicunknown
ss783291778ILLUMINA|HumanOmni2.5-4v1_H_rs8176305-131_T_F_1857512783rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt05/30/1307/29/15146Genomicunknown
ss784244381ILLUMINA|HumanOmniExpressExome-8v1_A_rs8176305-131_T_F_1889647614rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt05/31/1306/19/15146Genomicunknown
ss832553032ILLUMINA|HumanOmniExpress-12v1_H_rs8176305-131_T_F_1857512783rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt09/17/1306/18/15146Genomicunknown
ss834461459ILLUMINA|HumanOmni2.5-8v1_A_rs8176305-131_T_F_1865389251rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt09/18/1307/29/15146Genomicunknown
ss993111594EVA-GONL|EVA-GONL_rs8176305rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt04/23/1404/30/14142Genomicunknown
ss1081061472JMKIDD_LAB|HGDP_WGS_chr17_41201364rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt07/10/1407/12/14142Genomicunknown
ss13586718861000GENOMES|PHASE3_V1_72204888rev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt08/16/1408/16/14142Genomicunknown
ss1578158704EVA_GENOME_DK|EVA_GENOME_DK_snv_rs8176305rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt02/19/1502/19/15144Genomicunknown
ss1635660828EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_17_41201364_39857417rev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt03/04/1503/04/15144Genomicunknown
ss1678654861EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_17_41201364_39857417rev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt03/04/1503/04/15144Genomicunknown
ss1697154748EVA_DECODE|EVA_DECODE_17_38454890_280756_rs8176305rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt03/02/1503/04/15144Genomicunknown
ss1713582831EVA_SVP|EVA_SVP_1277198rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt03/12/1503/12/15144Genomicunknown
ss1752226196ILLUMINA|OmniExpressExome-8v1-1_B_rs8176305-131_T_F_1889647614rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt05/27/1506/09/15146Genomicunknown
ss1936572102WEILL_CORNELL_DGM|SNV:chr17:41201364rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt10/16/1510/19/15147Genomicunknown
ss2029063139JJLAB|SNP9565694rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt08/29/1608/31/16149Genomicunknown
ss2095075288ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs8176305-138_T_F_2271633578rev/BC/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt09/27/1609/27/16150Genomicunknown
ss2157533475USC_VALOUEV|NC_000017.10:g.41201364T>Crev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt11/17/1611/17/16150Genomicunknown
ss2216876604HUMAN_LONGEVITY|HLI-17-43049347-T-Crev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt11/18/1611/18/16150Genomicunknown
ss2381989647TOPMED|17_41201364_T/Crev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt11/19/1611/19/16150Genomicunknown
ss2633397314ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs8176305-131_T_F_18896476rev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt02/02/1702/02/17151Genomicunknown
ss2635070312ILLUMINA|Cancer_BeadChip_11459870_A_rs8176305-128_T_F_1782892122rev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt02/02/1702/02/17151Genomicunknown
ss2949917315GNOMAD|rs8176305rev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt05/23/1705/23/17151Genomicunknown
ss3015540996SWEGEN|NC_000017.10:g.41201364T>Crev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt05/30/1705/30/17151Genomicunknown
ss3262924170TOPMED|TOPMed_freeze_5?chr17:43,049,347rev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt10/01/1710/01/17151Genomicunknown
ss3351748122CSHL|rs8176305rev/C/Tccaaaggacaatggtcttaaaatagaggggtatggattttaagtcaattt10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8176305|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CAGTGGCCGT GATTATCAGT TACCAACACA GAATTAggat gaagggagga agggagggaa
 ggaaggtggg TGTTTTTTCA CACAGTGTCT TAGCCAGCAA TTTAGCAAAT TAATGGAAAT
 TAGATCTTTG ATTTTTTTTT CTTTCAAGCA TTTTATTTGA GAGACTATCA AACCTTATAC
 CAAGTGGCCT TATGGAGACT GATAACCAGA GTACATGGCA TATCAGTGGC AAATTGACTT
 AAAATCCATA CCCCT
 R
 CTATTTTAAG ACCATTGTCC TTTGGAGCAG AGAGACAGAC TCTCCCATTG AGAGGTCTTG
 CTATAAGCCT TCATCCGGAG AGTGTAGGGT AGAGGGCCTG GGTTAAGTAT GCAGATTACT
 GCAGTGATTT TACATCTAAA TGTCCATTTT AGATCAACTG GAATGGATGG TACAGCTGTG
 TGGTGCTTCT GTGGTGAAGG AGCTTTCATC ATTCACCCTT GGCACAGTAA GTATTGGGTG
 CCCTGTCAGA GAGGG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010755.15
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs8176305 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1358671886EAS 1008AF 1.00000000
EUR 1006AF 0.916500030.08350000
AFR 1322AF 0.993900000.00610000
AMR 694AF 0.942399980.05760000
SAS 978AF 0.970300020.02970000
ss237244581pilot_1_CEU_low_coverage_panel 120AF 0.891666650.10833333
ss24587989AFD_EUR_PANELEuropean 48IG0.791666690.20833333 1.000000000.895833310.10416666
AFD_AFR_PANELAfrican American 46IG0.956521750.04347826 1.000000000.978260870.02173913
AFD_CHN_PANELAsian 48IG1.00000000 1.00000000
ss8486436PDR90Global 156IG0.923076930.07692308 1.000000000.961538430.03846154
HapMap-CEUEuropean 226IG0.823008840.159292040.017699110.342782000.902654890.09734514
HAPMAP-ASW 98IG0.938775540.06122449 1.000000000.969387770.03061225
HAPMAP-GIH 174IG0.977011500.02298851 1.000000000.988505720.01149425
HAPMAP-MEX 100IG0.880000000.12000000 1.000000000.940000000.06000000
HAPMAP-MKK 286IG0.965034960.03496503 1.000000000.982517480.01748252
HAPMAP-TSI 176IG0.863636370.125000000.011363640.438578000.926136370.07386363
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.062+/-0.1650000ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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