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Reference SNP (refSNP) Cluster Report: rs4308687                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.4874/2441 (1000 Genomes)
G=0.4759/59761 (TOPMED)
HGVS Names
  • CM000670.2:g.80798602G>A
  • CM000670.2:g.80798602G>C
  • NC_000008.10:g.81710837G>A
  • NC_000008.11:g.80798602G>A
  • NC_000008.11:g.80798602G>C
  • NM_001033723.2:c.221+22772C>G
  • NM_001033723.2:c.221+22772C>T
  • XR_928797.2:n.1084+22772C>G
  • XR_928797.2:n.1084+22772C>T
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 ss10436841 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4308687 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
ss5712277SC_JCM|NT_007972.12_204690fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc01/10/0310/10/03111Genomicunknown
ss10436841BCM_SSAHASNP|chr8.NT_008183.16_33553387byFreqfwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc06/29/0305/17/04116Genomicunknown
ss14593718WUGSC_SSAHASNP|chr8.NT_008183.17_33553387fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc11/05/0311/22/03126Genomicunknown
ss22691917SSAHASNP|WGSA-200403-chr8.chr8.NT_008183.17_33553387fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc03/21/0403/21/04121Genomicunknown
ss24559820PERLEGEN|afd4408311byFreqfwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc08/10/0409/13/04123Genomicunknown
ss43158487ABI|hCV26363406fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc07/18/0507/18/05126Genomicunknown
ss66170933AFFY|SNP_A-2194356byFreqfwd/TA/Gcatgatcacttacccatctctaagaagatcca10/27/0603/31/08127Genomicunknown
ss66560344ILLUMINA|HumanHap300v1.1_rs4308687fwd/BA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc11/09/0611/09/06127Genomicunknown
ss67325713ILLUMINA|HumanHap550v1.1_rs4308687fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc11/14/0611/14/06127Genomicunknown
ss67727799ILLUMINA|HumanHap650Yv1.0_rs4308687fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc11/14/0611/14/06127Genomicunknown
ss69053715PERLEGEN|PGP04408311byFreqfwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc01/30/0703/31/08127Genomicunknown
ss70799341ILLUMINA|HumanHap550v3.0__rs4308687rev/BC/Tgactagggtaagtttggatcttcttagagatgggtaagtgatcatgaccagaattctgat04/20/0703/30/08130Genomicunknown
ss71377950ILLUMINA|HumanHap650Yv3.0_rs4308687fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc04/23/0704/23/07127Genomicunknown
ss75617101ILLUMINA|ILMN_Human_1M_rs4308687fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc08/28/0708/29/07129Genomicunknown
ss76224579AFFY|AFFY_6_1M_SNP_A-2194356byFreqfwd/TA/Gcatgatcacttacccatctctaagaagatcca08/28/0703/07/10130Genomicunknown
ss78805448HGSV|Cor18507_SNV_20070510.chr8_81873392fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc10/19/0710/20/07129Genomicunknown
ss79178989ILLUMINA|HumanHap300v2.0_rs4308687fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc04/18/0711/18/07130Genomicunknown
ss84248248KRIBB_YJKIM|KHS667442fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc12/04/0712/06/07130Genomicunknown
ss98087535HUMANGENOME_JCVI|1103652364397fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc03/30/0803/31/08130Genomicunknown
ss104546475BGI|BGI_rs4308687fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc06/08/0806/18/09131Genomicunknown
ss1081617501000GENOMES|CEU.trio.12.15.2008_2021880_chr8_81873392fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc12/15/0812/15/08130Genomicunknown
ss1132883991000GENOMES|NA19240_2008_12_16_1825957_chr8_81873392fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc12/18/0812/18/08130Genomicunknown
ss116035601ILLUMINA-UK|NA18507_000118411_NCBI36.1_chr8_81873392fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc01/16/0901/17/09131Genomic99 %
ss122292258ILLUMINA|HumanCNV370v1_C_rs4308687fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc04/14/0904/15/09131Genomicunknown
ss133520668ENSEMBL|ENSSNP2872943fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc12/08/0810/15/09131Genomicunknown
ss154289305ILLUMINA|Human610_Quadv1_B_rs4308687-128_B_R_1501772212rev/BC/Tgactagggtaagtttggatcttcttagagatgggtaagtgatcatgaccagaattctgat06/18/0906/20/09131Genomicunknown
ss156563127GMI|GMI_SNP_66980220fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc06/24/0906/25/09131Genomicunknown
ss159466264ILLUMINA|Human660W-Quad_v1_A_rs4308687-128_B_R_1501772212rev/BC/Tgactagggtaagtttggatcttcttagagatgggtaagtgatcatgaccagaattctgat07/06/0907/07/09131Genomicunknown
ss160671611ILLUMINA|HumanOmni1-Quad_v1-0_B_rs4308687-128_B_R_1512139344rev/BC/Tgactagggtaagtttggatcttcttagagatgggtaagtgatcatgaccagaattctgat08/04/0910/04/09131Genomicunknown
ss165104358COMPLETE_GENOMICS|NA19240_36_chr8_81873392fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc09/29/0909/30/09132Genomicunknown
ss166810489COMPLETE_GENOMICS|NA20431_36_chr8_81873392fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc09/30/0909/30/09132Genomicunknown
ss171771528ILLUMINA|HumanCNV370-Quadv3_C_rs4308687-128_B_R_1501772212rev/BC/Tgactagggtaagtttggatcttcttagagatgggtaagtgatcatgaccagaattctgat10/01/0910/04/09132Genomicunknown
ss172876324AFFY|GenomeWideSNP_5_SNP_A-2194356fwd/TA/Gcatgatcacttacccatctctaagaagatcca10/01/0910/02/09132Genomicunknown
ss173712832ILLUMINA|Human1M-Duov3_B_rs4308687-128_B_R_1501772212rev/BC/Tgactagggtaagtttggatcttcttagagatgggtaagtgatcatgaccagaattctgat10/01/0910/04/09132Genomicunknown
ss199387154BUSHMAN|BUSHMAN-chr8-81873391fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc02/16/1003/06/10132Genomicunknown
ss208679595BCM-HGSC-SUB|BCM_CMT_1011-1695469fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc03/15/1003/20/10132Genomicunknown
ss2238064281000GENOMES|pilot_1_YRI_5616111_chr8_81873392fwd/A/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc04/22/1004/22/10132Genomicunknown
ss2345095301000GENOMES|pilot_1_CEU_4114159_chr8_81873392fwd/A/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc05/01/1005/01/10132Genomicunknown
ss2413498241000GENOMES|pilot_1_CHB+JPT_3234901_chr8_81873392fwd/A/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc05/01/1005/01/10132Genomicunknown
ss254452806BL|SNP96283_8_81873392fwd/TA/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc08/19/1008/19/10134Genomicunknown
ss279883395GMI|GMI_AK_SNP_4203666fwd/A/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc12/16/1012/16/10137Genomicunknown
ss294114691PJP|SNP_3621049_chr8_81873392fwd/A/Gatcagaattctggtcatgatcacttacccatctctaagaagatccaaacttaccctagtc01/21/1101/21/11134Genomicunknown
ss480921234ILLUMINA|HumanOmni2.5-4v1_B_rs4308687-128_B_R_1745431314fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc01/30/1210/29/16137Genomicunknown
ss480940461ILLUMINA|HumanOmniExpress-12v1_C_rs4308687-131_B_R_1857570666fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc01/30/1210/27/16137Genomicunknown
ss481901046ILLUMINA|HumanOmni1-Quad_v1-0_C_rs4308687-131_B_R_1865734037fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc01/30/1208/28/15146Genomicunknown
ss485255601ILLUMINA|HumanOmni2.5-4v1_D_rs4308687-131_B_R_1857570666fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc01/30/1210/28/16137Genomicunknown
ss537226311ILLUMINA|HumanOmni5-4v1_B_rs4308687-131_B_R_1894009512fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc06/22/1208/29/15146Genomicunknown
ss560865555TISHKOFF|snp_chr8_81710837fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc11/22/1211/23/12138Genomicunknown
ss655305202SSMP|8_81710837fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc12/14/1202/12/15138Genomicunknown
ss778533488ILLUMINA|HumanOmni25Exome-8v1_A_rs4308687-131_B_R_1865734037fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc05/30/1307/10/15146Genomicunknown
ss783073756ILLUMINA|HumanOmni2.5-4v1_H_rs4308687-131_B_R_1857570666fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc05/30/1307/29/15146Genomicunknown
ss784031519ILLUMINA|HumanOmniExpressExome-8v1_A_rs4308687-131_B_R_1894009512fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc05/31/1306/19/15146Genomicunknown
ss825509507ILLUMINA|HumanCNV370v1_C_rs4308687-126_B_R_IFB1136519158:0fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc06/24/1311/21/14144Genomicunknown
ss832331935ILLUMINA|HumanOmniExpress-12v1_H_rs4308687-131_B_R_1857570666fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc09/17/1306/19/15146Genomicunknown
ss833990041ILLUMINA|HumanOmni2.5-8v1_A_rs4308687-131_B_R_1865734037fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc09/18/1307/29/15146Genomicunknown
ss985719407EVA-GONL|EVA-GONL_rs4308687fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc04/23/1404/25/14142Genomicunknown
ss1075669161JMKIDD_LAB|HGDP_WGS_chr8_81710837fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc07/10/1407/11/14142Genomicunknown
ss13306319191000GENOMES|PHASE3_V1_43010946fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc08/16/1408/16/14142Genomicunknown
ss1431571589DDI|DDI_rs4308687fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc11/04/1411/05/14144Genomicunknown
ss1582759576EVA_GENOME_DK|EVA_GENOME_DK_snv_rs4308687fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc02/19/1502/20/15144Genomicunknown
ss1595322050EVA_DECODE|EVA_DECODE_8_81873392_700769_rs4308687fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc03/02/1503/03/15144Genomicunknown
ss1621048096EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_81710837_23795682fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc03/04/1503/04/15144Genomicunknown
ss1664042129EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_81710837_23795682fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc03/04/1503/04/15144Genomicunknown
ss1713049152EVA_SVP|EVA_SVP_743519fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc03/12/1503/12/15144Genomicunknown
ss1752743390ILLUMINA|OmniExpressExome-8v1-1_B_rs4308687-131_B_R_1894009512fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc05/27/1506/09/15146Genomicunknown
ss1805618192HAMMER_LAB|Hsieh_4633103fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc07/15/1507/16/15146Genomicunknown
ss1929001815WEILL_CORNELL_DGM|SNV:chr8:81710837fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc10/16/1510/17/15147Genomicunknown
ss2025206115JJLAB|SNP5708670fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc08/29/1608/30/16149Genomicunknown
ss2095213203ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs4308687-138_B_R_2276580367fwd/TA/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc09/27/1609/27/16150Genomicunknown
ss2153430991USC_VALOUEV|NC_000008.10:g.81710837G>Afwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc11/17/1611/17/16150Genomicunknown
ss2304729529HUMAN_LONGEVITY|HLI-8-80798602-G-Afwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc11/18/1611/18/16150Genomicunknown
ss2474601141TOPMED|8_81710837_G/Afwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc11/20/1611/20/16150Genomicunknown
ss2627079098SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3633115fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc01/06/1701/06/17151Genomicunknown
ss2634767958ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs4308687-131_B_R_18940095fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc02/02/1702/02/17151Genomicunknown
ss2709204844GRF|rs4308687fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc02/13/1702/13/17151Genomicunknown
ss2869005564GNOMAD|rs4308687fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc05/19/1705/19/17151Genomicunknown
ss2986086932AFFY|Axiom_Smokesc1_Affx-32669024fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc05/24/1705/24/17151Genomicunknown
ss3003490125SWEGEN|NC_000008.10:g.81710837G>Afwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc05/30/1705/30/17151Genomicunknown
ss3026387839BIOINF_KMB_FNS_UNIBA|8.80798602G>Afwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc07/05/1707/05/17151Genomicunknown
ss3348267061CSHL|rs4308687fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc10/02/1710/02/17151Genomicunknown
ss3567301499TOPMED|TOPMed_freeze_5?chr8:80,798,602-01fwd/A/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc10/06/1710/06/17151Genomicunknown
ss3567301500TOPMED|TOPMed_freeze_5?chr8:80,798,602-02fwd/C/Gaattctggtcatgatcacttacccatctctaagaagatccaaacttaccc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4308687|allelePos=2678|totalLen=3467|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 TGGGTAGAAT GGGGCTTGGT GGTGCTGATG ATACTAATCA CTTATTGAAA ACAACTGATT
 TTCACTGCTC CAAAATTTGT GCCCTTTAAA TGGAGAAACA TAGCTATTTG CTTCTTGGAA
 AAACTGACCT TTAGCTAGAA ACCAAATGAA ACCGGGtgtc ttagtccata ttctgttgct
 tataacagaa tacttgaaac tgggtaattc attttttcaa aaggggttta tttcttacag
 ttgtagaggc tgagaagtct aaggttgaag agccacatct ggtgacagcc ttattgctgg
 tgggaactct ctgcagagtc gtaaggcagc acagggaatc acgtgttgag gggcctgagt
 gtgtaagctc aggtctctct tcctcacctt ataaagccag cagtctcact cttgtgataa
 ctcattaacc cattaatcca ctaataggtt aacccattcc tgagggcaga gccctcatga
 cactatcatc tcttaaagag atctctatca tcttcccacc tctcaatacc accacattgg
 aaattaagct tcaacatgag ggaacaaaca ttcaaaccat agAAttctgc ccatgccctc
 cccgcaaata aactcttttc tcacaaacaa atgtattcat tccctcccca tagctccaaa
 gtcctcactg gttccaggat caactcaaaa gtccaaagtc tcatctgtga aatcaaaata
 agttatctac ttccaagata caatggcagg acaggcatag agtggacatt cccatttgaa
 aaggaagaaG Actgggtgtg gtggctcatg cttgtaatcc cagcacactg gaaggccaag
 gcaaaaggat agcctgagcc caggagtttg agatcagcct ggatgaacac tgtgaaagaa
 aagaaagaaa agaaaagaaa aaaGAAAGAA AAGAGAAATG AAagagagaa agagagaggg
 aaatggaaag ggaaagagaa agggaaaggg aaagagaaag ggaagggaaa aggaaaagaa
 gggagggagg gagagaagga aagggaggga gggagggagg gagggaggaa gGAAGGAAGC
 AAGCAAGCAA Gcaaaggagg gaatagccca aaagatagtg gtaacaggcc ccaagctagt
 ctgaagccca agagggtaaa cattaaatca taaagctgga gaataatctc ccttgactcc
 acgtccagtg tcctatgtat actggtatga gggttggggc tctaaggcct tgggcagctc
 tgcccccatg gcattcctgg gttcagccca tgctggcact gcacacaggt agctttatag
 ttctggggtc ttggtgttgg ccctgctctc acagctccac taggcaatgc cctggtagga
 actctatggc aagatggagc ccatatttct gcttggcatt gccctagtag gggctctctg
 cagtggctcc gcccctgcaa aaagtcttct gcctgagtcc acaagctgct tgacacattc
 tttgaaatct aggtgaaagc tgctgtgcct ccatatctct tgcattctgt gggcctgcac
 aattaacatc atatgtatgc ctccaaggtt gttacagctt gtacctttca gagtggcagg
 ttgagccata cctggtgcca cttgaatcac agctggggtg gtcaaggagt gatgaggcta
 gaatgcaggg agcagagacc tgcaaggacc ctgggcagga agcccacgga gggtttcctg
 gatttgtctg gcaaaactat tttgccctcc taggcctctg gggcccatga tgggagaggc
 agcttcaaag atatctaaaa tgtcttcagg gtctttcttc tagtctctta atcatccctt
 ctctctgtac tgatctcctc agtaaaggtc actgaaaaaa aaagcacgtt ctcctgaaca
 tgttttttca ctctttacat ggccaggcta agagttttcc aaatccttct gctttgcttc
 tttcttgatt ataaattcca ttttaagtca atttttccct ctcacagctt aatgtaagtg
 gttaaaggta gccatgcagc agcctgaatg ttttactgct tcaacatttc ttctgccaga
 tatcctaatt catGGATCTT TTTTTGCTCt ttttttcatt ttaattttta aaatttttaa
 tttttGTGGA TATACAGTAG GTGTATTaag ttctacattc cataatatcc ttagacatgg
 acacaatgca gccaagttgt cagtttataa caagaagggc ctttacacat gtttccaata
 ccttgtttct cagttccatc tgaaacctca ttgtaatggc ctttagtgtc catatttttt
 ttttttttga gatggagttc tgctcttgtt gcccaggctg gagtaccatg gcacaatctt
 agctcaccgc aacctccgcc tcccaggttc aagtgattct cgtgcctcag cctcccaagt
 agctaggatt acaggcacta gccaccacgc ccagctaatt ttgtattttt agtagagaca
 gggtttctcc atgttggtca ggctggtctc gaactctcaa cctcaggtga tctgcccatc
 tcggcctccc aaagtgctgg gattataggc gtgagccacg atgcccggcc ctggtgtcca
 tatttctatc agaattctgg tcatgatcac ttaccca
 V
 tctctaagaa gatccaaact taccctagtc ttcttgtctt ctaagccttc accagaatct
 aggctttgtc tagcctgctc ctcgaaattc ttccaagcct ctgctcatta ctcagttcca
 aagctgcttc catattttca ggaatttgat atcagcaaca cccctctctc agtacctttt
 tctgtcttag accattttct gttgcttaaa acagaatacc tgaaactgaa taatttataa
 agaaaaggaa tttatttctt acagttatgg aggctgagaa gtccaaggtt taggggccgt
 atctggtgag ggctttcttg ctggtgggaa ctctttacag agtcccaaag tggctcatgg
 catgacatgg caaaagagtc tgagtgtgct agatcaggtc tgtcttcctc tccttataaa
 gccatcagtc ccactcctgt gataaactgt taattcatta acccattaat ccattgatcc
 ataaatagaa ttaaccattc acctcttaaa ggcctcactt ctcaaaactg ccatcttggg
 gattaagttt caacatgaat tttgaaatga acaaacattc aaaccatagG AACTGGAAAT
 TACTGTTAAT ATTTCAAATT GTAGGATGCT AGACAATAAT ACATATAAAA AGTTACAAGG
 AATAATTATG CAATATTTAT TTTGCAATAT GCTGAAGTAT TAAGTCATAA ATTGTTTTAT
 AATTGAATTG AATTTCTCTT TTAATTTTTA GACCTGAACT CTGAAGTAAA GGCTTATTTC
 CCTTGAGTC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008183 ABBA01004058
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
A/G
G
G/G
N
HWPA
G
N
ss10436841HapMap-CEUEuropean 226IG 0.176991150.40707964 0.41592920 0.150222000.380530980.61946905
HapMap-HCBAsian 86IG 0.046511630.46511629 0.48837209 0.317310000.279069780.72093022
HapMap-JPTAsian 172IG 0.081395350.39534885 0.52325583 1.000000000.279069780.72093022
HapMap-YRISub-Saharan African 226IG 0.814159270.17699115 0.00884956 1.000000000.902654890.09734514
CHMJAsian 74IG0.18918920 0.79729730 0.01351351 0.189189200.797297300.01351351
HAPMAP-ASW 98IG 0.653061210.30612245 0.04081633 1.000000000.806122420.19387755
HAPMAP-CHBAsian 82IG 0.097560970.31707317 0.58536583 0.294266000.256097560.74390244
HAPMAP-CHD 170IG 0.129411770.47058824 0.40000001 1.000000000.364705890.63529414
HAPMAP-GIH 172IG 0.290697660.52325583 0.18604651 0.654721000.552325610.44767442
HAPMAP-LWK 180IG 0.666666690.31111112 0.02222222 0.583882000.822222230.17777778
HAPMAP-MEX 100IG 0.080000000.56000000 0.36000001 0.150222000.360000010.63999999
HAPMAP-MKK 286IG 0.391608390.50349653 0.10489511 0.250592000.643356620.35664335
HAPMAP-TSI 176IG 0.147727270.53409094 0.31818181 0.371093000.414772720.58522725
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss116035601YRI 2IG 1.00000000 1.00000000
ss1330631919EAS 1008AF 0.286699980.71329999
EUR 1006AF 0.395599990.60440004
AFR 1322AF 0.829800010.17019999
AMR 694AF 0.347299990.65270001
SAS 978AF 0.554200050.44580001
ss133520668ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss165104358YRISub-Saharan African 2IG 1.00000000 1.00000000
ss166810489PGP 2IG 1.00000000 0.500000000.50000000
ss223806428pilot_1_YRI_low_coverage_panel 118AF 0.915254240.08474576
ss234509530pilot_1_CEU_low_coverage_panel 120AF 0.425000010.57499999
ss241349824pilot_1_CHB+JPT_low_coverage_panel 120AF 0.250000000.75000000
ss24559820AFD_EUR_PANELEuropean 48IG 0.250000000.45833334 0.29166666 0.751830000.479166660.52083331
AFD_AFR_PANELAfrican American 46IG 0.608695630.21739130 0.17391305 0.050043000.717391310.28260869
AFD_CHN_PANELAsian 48IG 0.208333330.25000000 0.54166669 0.050043000.333333340.66666669
ss66170933HapMap-CEUEuropean 118IG 0.135593220.44067797 0.42372882 1.000000000.355932210.64406782
HapMap-HCBAsian 90IG 0.044444450.46666667 0.48888889 0.294266000.277777790.72222221
HapMap-JPTAsian 90IG 0.088888890.33333334 0.57777780 0.438578000.255555570.74444443
HapMap-YRISub-Saharan African 120IG 0.816666660.18333334 0.751830000.908333360.09166667
ss69053715HapMap-CEUEuropean 120IG 0.150000010.43333334 0.41666666 0.654721000.366666670.63333333
HapMap-HCBAsian 90IG 0.044444450.46666667 0.48888889 0.294266000.277777790.72222221
HapMap-JPTAsian 90IG 0.088888890.35555556 0.55555558 0.583882000.266666680.73333335
HapMap-YRISub-Saharan African 120IG 0.833333310.16666667 1.000000000.916666690.08333334
ss76224579ICMHP 10IG 0.200000000.20000000 0.60000002 0.300000010.69999999
ss98087535J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.500+/-0.0130000ALFRED: 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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