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Reference SNP (refSNP) Cluster Report: rs6811874                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.1887/945 (1000 Genomes)
G=0.2008/25211 (TOPMED)
HGVS Names
  • CM000666.2:g.14812027A>G
  • NC_000004.11:g.14813651A>G
  • NC_000004.12:g.14812027A>G
  • NR_126435.1:n.185+47516T>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 ss277587623 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6811874 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
ss10103318BCM_SSAHASNP|chr4.NT_006316.15_5489009byFreqfwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct06/27/0304/07/04116Genomicunknown
ss66592199ILLUMINA|HumanHap300v1.1_rs6811874fwd/BA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct11/09/0611/09/06127Genomicunknown
ss67503003ILLUMINA|HumanHap550v1.1_rs6811874fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct11/14/0611/14/06127Genomicunknown
ss67864831ILLUMINA|HumanHap650Yv1.0_rs6811874fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct11/14/0611/14/06127Genomicunknown
ss70888812ILLUMINA|HumanHap550v3.0__rs6811874fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct04/20/0703/31/08130Genomicunknown
ss71481218ILLUMINA|HumanHap650Yv3.0_rs6811874fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct04/23/0704/23/07127Genomicunknown
ss74929938ILLUMINA|ILMN_Human_1M_rs6811874fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct08/28/0708/29/07129Genomicunknown
ss79235050ILLUMINA|HumanHap300v2.0_rs6811874fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct04/18/0711/18/07130Genomicunknown
ss84553550KRIBB_YJKIM|KHS741979fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct12/04/0712/07/07130Genomicunknown
ss92482305BCMHGSC_JDW|JWB-1742004byFreqfwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct02/26/0809/05/14129Genomicunknown
ss1129429241000GENOMES|CEU.trio.12.15.2008_921545_chr4_14422749fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct12/18/0812/18/08130Genomicunknown
ss122625573ILLUMINA|HumanCNV370v1_C_rs6811874fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct04/14/0904/15/09131Genomicunknown
ss133293850ENSEMBL|ENSSNP2297542fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct12/08/0810/15/09131Genomicunknown
ss139460661ENSEMBL|ENSSNP12520891fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct05/18/0905/19/09131Genomicunknown
ss154384905ILLUMINA|Human610_Quadv1_B_rs6811874-127_T_F_1501820859fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct06/18/0906/20/09131Genomicunknown
ss159560658ILLUMINA|Human660W-Quad_v1_A_rs6811874-128_T_F_1501820859fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct07/06/0907/07/09131Genomicunknown
ss166200498COMPLETE_GENOMICS|NA20431_36_chr4_14422749fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct09/30/0909/30/09132Genomicunknown
ss172199834ILLUMINA|HumanCNV370-Quadv3_C_rs6811874-127_T_F_1501820859fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct10/01/0910/04/09132Genomicunknown
ss174125205ILLUMINA|Human1M-Duov3_B_rs6811874-127_T_F_1501820859fwd/TA/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct10/01/0910/04/09132Genomicunknown
ss2207603541000GENOMES|pilot_1_YRI_2570037_chr4_14422749fwd/A/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct04/22/1004/22/10132Genomicunknown
ss2322730781000GENOMES|pilot_1_CEU_1877707_chr4_14422749fwd/A/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct05/01/1005/01/10132Genomicunknown
ss2395905071000GENOMES|pilot_1_CHB+JPT_1475584_chr4_14422749fwd/A/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct05/01/1005/01/10132Genomicunknown
ss277587623GMI|GMI_AK_SNP_1907843fwd/A/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct12/16/1012/16/10137Genomicunknown
ss284852444GMI|GMI_NA10851_SNP_865217fwd/A/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct12/17/1012/17/10138Genomicunknown
ss293215922PJP|SNP_2722280_chr4_14422749fwd/A/Gcagaaggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacaggcagct01/21/1101/21/11134Genomicunknown
ss537396800ILLUMINA|HumanOmni5-4v1_B_rs6811874-131_T_F_1908499793fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg06/22/1208/28/15146Genomicunknown
ss557332499TISHKOFF|snp_chr4_14813651fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg11/22/1211/23/12138Genomicunknown
ss651096854SSMP|4_14813651fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg12/14/1202/10/15138Genomicunknown
ss825565568ILLUMINA|HumanCNV370v1_C_rs6811874-116_T_F_IFB1135087172:0fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg06/24/1311/21/14144Genomicunknown
ss833071810ILLUMINA|Human660W-Quad_v1_C_rs6811874-131_T_F_1852852173fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg09/18/1307/02/15142Genomicunknown
ss833662638ILLUMINA|Human660W-Quad_v1_H_rs6811874-131_T_F_1852852173fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg09/18/1307/02/15142Genomicunknown
ss979801594EVA-GONL|EVA-GONL_rs6811874fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg04/23/1404/24/14142Genomicunknown
ss1071301543JMKIDD_LAB|HGDP_WGS_chr4_14813651fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg07/10/1407/11/14142Genomicunknown
ss13085687401000GENOMES|PHASE3_V1_20023809fwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg08/16/1408/16/14142Genomicunknown
ss1429785034DDI|DDI_rs6811874fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg11/04/1411/05/14144Genomicunknown
ss1580429528EVA_GENOME_DK|EVA_GENOME_DK_snv_rs6811874fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg02/19/1502/20/15144Genomicunknown
ss1589289979EVA_DECODE|EVA_DECODE_4_14422749_134190_rs6811874fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg03/02/1503/03/15144Genomicunknown
ss1609478663EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_4_14813651_11092136fwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg03/04/1503/04/15144Genomicunknown
ss1652472696EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_4_14813651_11092136fwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg03/04/1503/04/15144Genomicunknown
ss1712653682EVA_SVP|EVA_SVP_348049fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg03/12/1503/12/15144Genomicunknown
ss1923040990WEILL_CORNELL_DGM|SNV:chr4:14813651fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg10/16/1510/17/15147Genomicunknown
ss1969666898GENOMED|rs6811874fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg02/16/1602/16/16149Genomicunknown
ss2022092757JJLAB|SNP2595312fwd/TA/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg08/29/1608/30/16149Genomicunknown
ss2150203175USC_VALOUEV|NC_000004.11:g.14813651A>Gfwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg11/17/1611/17/16150Genomicunknown
ss2260674942HUMAN_LONGEVITY|HLI-4-14812027-A-Gfwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg11/18/1611/18/16150Genomicunknown
ss2428179504TOPMED|4_14813651_A/Gfwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg11/20/1611/20/16150Genomicunknown
ss2625547605SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV1638756fwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg01/06/1701/06/17151Genomicunknown
ss2705646740GRF|rs6811874fwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg02/13/1702/13/17151Genomicunknown
ss2806012910GNOMAD|rs6811874fwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg05/18/1705/18/17151Genomicunknown
ss2994196645SWEGEN|NC_000004.11:g.14813651A>Gfwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg05/30/1705/30/17151Genomicunknown
ss3024815557BIOINF_KMB_FNS_UNIBA|4.14812027A>Gfwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg07/05/1707/05/17151Genomicunknown
ss3345561679CSHL|rs6811874fwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg10/02/1710/02/17151Genomicunknown
ss3421198413TOPMED|TOPMed_freeze_5?chr4:14,812,027fwd/A/Gggaagagaatgtacaaagtcttgggatgggggcagtatgggactaacagg10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6811874|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 AAATGATGTA GAGAAAAAAT GGCTAAAAAT AGGGTCTGAT TTGTATCTTG CAACTATCAA
 TTTTCTACCA TCTTAGGGTA TTATTATGAG TGCCTGCTCT GTGCTACGTG CTGGGCACCG
 TTCTAAAGCC TCAGTGGTAA GGTGGTGGAG GCAGGGGTTA GTGGAGAGTA AGAGATGTAA
 ACAAAACAAT CAAGCAAGTG AATAAAACCT CTCTGACCTC AGGGACTTTA ATGCCTTATC
 AAAAAGCCCA ATTTTAATTC TATAATCACG TAAGCATGCT ACAATGCATT GGAGAAAGTA
 TCAGGAAACA AATAGAAAAG TGCTAAGTGA ACAAAGGGCA GAGGAAGACA TCTTGTCTAA
 GGAACTAGAT GTCAAGAAAA CTTTCCATGG GAAGCCATTT AGCCACAAGT TGAAAGATGG
 GTAGCCACTC ACTGGCATAA GATTGGTTAG AGCAGGGAGC ACATTCCAAC CAGAAGGAAG
 AGAATGTACA AAGTCTTGGG
 R
 ATGGGGGCAG TATGGGACTA ACAGGCAGCT TCCTATGGCT GGTACCAGAG GAGATGGAAT
 TAAGCAAGGT TGAAGAGTTA CATAGGCCAT GTGAGAGATT TTGGAACTTA TCCTAAAAGC
 AAGAATAAGC TTTGCTTCAT GTTCCACTCA TTCATTGACT CATCCATTCA AAAGACTTTT
 TTTTTTTTTT TTTTTTTTTT TGCAAAATAT ACCAGGTGCC AGATCTGTGA TGAGTTCCGG
 GGATATGACA GACAGGTAAG GCAGCATCCT TCTCTCTCTC TCCTTCTCAA TCTGTCAACT
 GAGAGATGTA GATTAGATAA GGAATAATTA TAACACATTT TATTGTGATG AAGGAGGCTT
 GTCTCAAGTC CTAAGAGAAT ACAAAATGGA GTTCTCACCA CTGGCACTAA GAAAACCATA
 AAGAACAAAA GGAAACCATC CAGACTATTC CCAGCAGGGA AGACTTCTGT CCCAAAGAGC
 AAGGTGGATC AGGAAACTAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006316
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
G
ss1308568740EAS 1008AF 0.858100000.14190000
EUR 1006AF 0.764400010.23559999
AFR 1322AF 0.888000010.11200000
AMR 694AF 0.855900050.14410000
SAS 978AF 0.675900040.32409999
ss133293850ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss139460661ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss166200498PGP 2IG 1.00000000 0.500000000.50000000
ss220760354pilot_1_YRI_low_coverage_panel 118AF 0.881355940.11864407
ss232273078pilot_1_CEU_low_coverage_panel 120AF 0.791666690.20833333
ss239590507pilot_1_CHB+JPT_low_coverage_panel 120AF 0.850000020.15000001
ss92482305HapMap-CEUEuropean 226IG0.628318610.309734520.061946900.371093000.783185840.21681416
HapMap-HCBAsian 86IG0.744186040.25581396 0.654721000.872093020.12790698
HapMap-JPTAsian 172IG0.662790720.279069780.058139540.273322000.802325610.19767442
HapMap-YRISub-Saharan African 224IG0.767857130.223214280.008928570.583882000.879464270.12053572
HAPMAP-ASW 98IG0.897959170.081632650.020408160.050043000.938775540.06122449
HAPMAP-CHBAsian 82IG0.682926830.292682920.024390241.000000000.829268280.17073171
HAPMAP-CHD 170IG0.835294130.152941180.011764710.654721000.911764680.08823530
HAPMAP-GIH 174IG0.482758610.390804590.126436780.342782000.678160910.32183909
HAPMAP-LWK 180IG0.855555530.133333340.011111110.527089000.922222200.07777778
HAPMAP-MEX 100IG0.779999970.200000000.020000000.751830000.880000000.12000000
HAPMAP-MKK 286IG0.741258740.244755240.013986010.654721000.863636370.13636364
HAPMAP-TSI 176IG0.590909060.375000000.034090910.438578000.778409060.22159091

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.306+/-0.2440000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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