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Reference SNP (refSNP) Cluster Report: rs6759808                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.3644/1825 (1000 Genomes)
G=0.4159/52226 (TOPMED)
HGVS Names
  • CM000664.2:g.68423865G>A
  • NC_000002.11:g.68650997G>A
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 ss276512232 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6759808 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
ss10007646BCM_SSAHASNP|chr2.NT_022184.12_47466929fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga06/27/0310/10/03116Genomicunknown
ss19419568CSHL-HAPMAP|CSHL-HuDD-200402.chr2.NT_022184.13_47466929byFreqfwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga02/20/0403/31/08120Genomicunknown
ss65812301ILLUMINA|Human1-rs6759808fwd/BA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga10/10/0610/10/06127Genomicunknown
ss77491728HGSV|Cor12156_SNV_20070510.chr2_68562648byFreqfwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga10/09/0709/05/14129Genomicunknown
ss78355058HGSV|Cor12878_SNV_20070510.chr2_68562648fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga10/17/0710/19/07129Genomicunknown
ss83279306HGSV|Cor18956_SNV_20070510.chr2_68562648fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga11/30/0712/04/07130Genomicunknown
ss91198688BCMHGSC_JDW|JWB-1255463fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga02/26/0803/01/08129Genomicunknown
ss106096998BGI|BGI_rs6759808fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga09/13/0806/17/09130Genomicunknown
ss1096080501000GENOMES|CEU.trio.12.15.2008_401620_chr2_68504501fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga12/16/0812/16/08130Genomicunknown
ss1104237761000GENOMES|NA19240_2008_12_16_362855_chr2_68504501fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga12/17/0812/17/08130Genomicunknown
ss117746325ILLUMINA-UK|NA18507_000097940_NCBI36.1_chr2_68504501fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga01/19/0901/20/09130Genomic99 %
ss138461980ENSEMBL|ENSSNP5980614fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga05/15/0905/17/09131Genomicunknown
ss157185443GMI|GMI_SNP_76063371fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga06/24/0906/25/09131Genomicunknown
ss160806855ILLUMINA|HumanOmni1-Quad_v1-0_B_rs6759808-128_T_F_1541742113fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga08/04/0910/04/09131Genomicunknown
ss163558103COMPLETE_GENOMICS|NA19240_36_chr2_68504501fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga09/29/0909/29/09132Genomicunknown
ss164600418COMPLETE_GENOMICS|NA07022_36_chr2_68504501fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga09/29/0909/29/09132Genomicunknown
ss200579906BUSHMAN|BUSHMAN-chr2-68504500fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga02/16/1003/07/10132Genomicunknown
ss205690311BCM-HGSC-SUB|BCM_CMT_1011-324211fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga03/15/1003/16/10132Genomicunknown
ss2193072371000GENOMES|pilot_1_YRI_1116920_chr2_68504501fwd/A/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga04/22/1004/22/10132Genomicunknown
ss2312143631000GENOMES|pilot_1_CEU_818992_chr2_68504501fwd/A/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga05/01/1005/01/10132Genomicunknown
ss2387578141000GENOMES|pilot_1_CHB+JPT_642891_chr2_68504501fwd/A/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga05/01/1005/01/10132Genomicunknown
ss253179886BL|SNP78211_2_68504501fwd/TA/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga08/18/1008/18/10134Genomicunknown
ss276512232GMI|GMI_AK_SNP_832401fwd/A/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga12/16/1012/16/10137Genomicunknown
ss292289390PJP|SNP_1795748_chr2_68504501fwd/A/Gggatttggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgacttaga01/21/1101/21/11134Genomicunknown
ss482350726ILLUMINA|HumanOmni1-Quad_v1-0_C_rs6759808-131_T_F_1863359062fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac01/30/1208/28/15146Genomicunknown
ss555638241TISHKOFF|snp_chr2_68650997fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac11/22/1211/23/12138Genomicunknown
ss649227089SSMP|2_68650997fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac12/14/1202/10/15138Genomicunknown
ss976957063EVA-GONL|EVA-GONL_rs6759808fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac04/23/1404/23/14142Genomicunknown
ss1069206698JMKIDD_LAB|HGDP_WGS_chr2_68650997fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac07/10/1407/10/14142Genomicunknown
ss12977032911000GENOMES|PHASE3_V1_8707335fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac08/16/1408/16/14142Genomicunknown
ss1428612518DDI|DDI_rs6759808fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac11/04/1411/04/14144Genomicunknown
ss1578928200EVA_GENOME_DK|EVA_GENOME_DK_snv_rs6759808fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac02/19/1502/20/15144Genomicunknown
ss1586372051EVA_DECODE|EVA_DECODE_2_68504501_573947_rs6759808fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac03/02/1503/02/15144Genomicunknown
ss1603766621EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_68650997_4820042fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac03/04/1503/04/15144Genomicunknown
ss1646760654EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_68650997_4820042fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac03/04/1503/04/15144Genomicunknown
ss1796902133HAMMER_LAB|Hsieh_925070fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac07/15/1507/15/15146Genomicunknown
ss1920183677WEILL_CORNELL_DGM|SNV:chr2:68650997fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac10/16/1510/16/15147Genomicunknown
ss1968797780GENOMED|rs6759808fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac02/16/1602/16/16147Genomicunknown
ss2020626382JJLAB|SNP1128937fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac08/29/1608/30/16149Genomicunknown
ss2094904995ILLUMINA|Immuno_BeadChip_11419691_B_imm_2_68504501-1_T_F_1670139578fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac09/27/1609/27/16150Genomicunknown
ss2095094751ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_2_68504501-1_T_F_2310591027fwd/TA/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac09/27/1609/27/16150Genomicunknown
ss2148671632USC_VALOUEV|NC_000002.11:g.68650997G>Afwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac11/17/1611/17/16150Genomicunknown
ss2231280121HUMAN_LONGEVITY|HLI-2-68423865-G-Afwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac11/18/1611/18/16150Genomicunknown
ss2397229679TOPMED|2_68650997_G/Afwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac11/19/1611/19/16150Genomicunknown
ss2624823035SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV709510fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac01/06/1701/06/17151Genomicunknown
ss2703244077GRF|rs6759808fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac02/13/1702/13/17151Genomicunknown
ss2774809966GNOMAD|rs6759808fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac05/17/1705/17/17151Genomicunknown
ss2985798576AFFY|Axiom_Smokesc1_Affx-20409562fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac05/24/1705/24/17151Genomicunknown
ss2989688960SWEGEN|NC_000002.11:g.68650997G>Afwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac05/30/1705/30/17151Genomicunknown
ss3021981014ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs6759808-138_T_F_2264363152fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac06/28/1706/28/17151Genomicunknown
ss3024080401BIOINF_KMB_FNS_UNIBA|2.68423865G>Afwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac07/05/1707/05/17151Genomicunknown
ss3311048140TOPMED|TOPMed_freeze_5?chr2:68,423,865fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac10/02/1710/02/17151Genomicunknown
ss3344280279CSHL|rs6759808fwd/A/Gtggaacatgagtttgaaggtaagggagagagtcaggatgcagagactgac10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6759808|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GCAGGGGGGT GGAAAACACA TCCTTCTTCA CCTGGTAGCA GGAAGGTGAA GAGTGAGAGC
 CAAGCAAAGG GGGAAGCCCC TTATAAAACC ATTAGATCTC ATGAGAACTT ACTATCATGA
 GAGCAGCAAG GGGGAAACTG CCCCCATGAT TCAATTACCT CTCACCAGGT CCCTCCTATG
 ACATGTGAGG ATTATGGGAA CTACAATTCA AGATGAGATT TGGGTGGGGA CCCAGCCAAA
 CCATATCAGA AGGTGACTCC AGAGATGGGG AAATTAATTA GTGGACTACT GTAGTATATC
 TCTATGGGAG GTGAGAAGAG TGTCAGTAGC AGAAAGAATG ATGAACAGAA CCATTTCAAA
 GGAAGAATCT ACAGATTGCA ATGAGTAAGA TGGTGAGAGT TAAGAGGTGT TTTCCATTCT
 TTGGGAAGAG CAGTTCCTTA AGAGAAAAAG GAAAGTCATA GCATGAGGAT GGATTTGGAA
 CATGAGTTTG AAGGTAAGGG
 R
 AGAGAGTCAG GATGCAGAGA CTGACTTAGA CTCATGAGCA AAGAAGTAAC AGCTGAAGTC
 CTAGGAGATG CGTTCACCAA AAACGAATAT GTAGAATTGA GAAATTGATA TAGGTCACCT
 GAGAAGACTC ATGAGTGGAG ATCAGGAGTA GAAAGATGAG CCAGCAAAAG GGTTGGTAAA
 GATTTGGTCT GCAGAAGAAG TGACTCAGAA GCCTAGGGAG AGGAGAGATT CTTCAAGAAA
 AGGGAAGTGG TTAACAATGT CAAATTCACA AAGGTTAAGG TGGCTGAGAT CTTAAAAAAG
 ACGGTTTGTT TTGGTCATTA AAGTGCCGTG GTGACCTTCA GGGCAGAAGT TTCAAAAGAA
 TGGTGAAGGG AGAAGTTACA CTACAGAGAA AATGGGGAAC AATGGTGAAA AAAAGAAAGC
 AATGGTCATA GATTATTCAT TTCAGAAGTT TGCTACAGTG AATTACCTAG TGGAGAACTG
 GCTTGTAGCT ACCAGGAGTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022184
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
ss117746325YRI 2IG 1.00000000 0.500000000.50000000
ss1297703291EAS 1008AF 0.889900030.11009999
EUR 1006AF 0.644100010.35589999
AFR 1322AF 0.363099990.63690001
AMR 694AF 0.708899970.29110000
SAS 978AF 0.680999990.31900001
ss138461980ENSEMBL_Watson 2IG1.00000000 1.00000000
ss163558103YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss164600418CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss200579906BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss219307237pilot_1_YRI_low_coverage_panel 118AF 0.457627120.54237288
ss231214363pilot_1_CEU_low_coverage_panel 120AF 0.591666640.40833333
ss238757814pilot_1_CHB+JPT_low_coverage_panel 120AF 0.916666690.08333334
ss77491728HapMap-CEUEuropean 116IG0.396551730.517241360.086206900.273322000.655172410.34482759
HapMap-HCBAsian 90IG0.822222230.17777778 1.000000000.911111120.08888889
HapMap-JPTAsian 88IG0.795454560.181818190.022727270.527089000.886363630.11363637
HapMap-YRISub-Saharan African 118IG0.152542370.542372880.305084740.402784000.423728820.57627118
ENSEMBL_Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.463+/-0.1310000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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