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Reference SNP (refSNP) Cluster Report: rs2717536                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.2151/1077 (1000 Genomes)
A=0.1794/22529 (TOPMED)
HGVS Names
  • CM000670.2:g.78789641G>A
  • NC_000008.10:g.79701876G>A
  • NC_000008.11:g.78789641G>A
  • NM_000880.3:c.147+8431C>T
  • NM_001199886.1:c.147+8431C>T
  • NM_001199887.1:c.147+8431C>T
  • NM_001199888.1:c.147+8431C>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 ss279878968 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2717536 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
ss3838982SC_JCM|AC083837.2_138425fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg09/25/0110/10/03100Genomicunknown
ss11952772WI_SSAHASNP|chr8.NT_008183.16_31544426byFreqrev/TA/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag07/04/0305/17/04116Genomicunknown
ss23583929PERLEGEN|afd1941445byFreqrev/TA/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag08/10/0409/13/04123Genomicunknown
ss66777194ILLUMINA|HumanHap300v1.1_rs2717536fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg11/09/0611/09/06127Genomicunknown
ss67269511ILLUMINA|HumanHap550v1.1_rs2717536fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg11/14/0611/14/06127Genomicunknown
ss67669922ILLUMINA|HumanHap650Yv1.0_rs2717536fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg11/14/0611/14/06127Genomicunknown
ss70747948ILLUMINA|HumanHap550v3.0__rs2717536fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg04/20/0703/30/08130Genomicunknown
ss71319919ILLUMINA|HumanHap650Yv3.0_rs2717536fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg04/23/0704/23/07127Genomicunknown
ss75920588ILLUMINA|ILMN_Human_1M_rs2717536fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg08/28/0708/29/07129Genomicunknown
ss79144588ILLUMINA|HumanHap300v2.0_rs2717536fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg04/18/0711/18/07130Genomicunknown
ss84072165KRIBB_YJKIM|KHS628161fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg12/04/0712/06/07130Genomicunknown
ss104545652BGI|BGI_rs2717536rev/TA/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag06/08/0806/18/09131Genomicunknown
ss1132703151000GENOMES|NA19240_2008_12_16_1823807_chr8_79864431rev/TA/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag12/18/0812/18/08130Genomicunknown
ss116029439ILLUMINA-UK|NA18507_000116074_NCBI36.1_chr8_79864431rev/TA/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag01/16/0901/17/09130Genomic99 %
ss122091475ILLUMINA|HumanCNV370v1_C_rs2717536fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg04/14/0904/15/09131Genomicunknown
ss154230023ILLUMINA|Human610_Quadv1_B_rs2717536-128_B_F_1501738650fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg06/18/0906/20/09131Genomicunknown
ss156549692GMI|GMI_SNP_30303760rev/TA/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag06/24/0906/25/09131Genomicunknown
ss159406547ILLUMINA|Human660W-Quad_v1_A_rs2717536-128_B_F_1501738650fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg07/06/0907/07/09131Genomicunknown
ss165075215COMPLETE_GENOMICS|NA19240_36_chr8_79864431rev/TA/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag09/29/0909/30/09132Genomicunknown
ss171354225ILLUMINA|HumanCNV370-Quadv3_C_rs2717536-128_B_F_1501738650fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg10/01/0910/03/09132Genomicunknown
ss173440658ILLUMINA|Human1M-Duov3_B_rs2717536-128_B_F_1501738650fwd/BC/Tctgtcagtgggccctgactaaccttcctgctcccctgtgcatctggcctttttaatgatg10/01/0910/03/09132Genomicunknown
ss208710479BCM-HGSC-SUB|BCM_CMT_1011-1705750rev/TA/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag03/15/1003/20/10132Genomicunknown
ss2237991271000GENOMES|pilot_1_YRI_5608810_chr8_79864431rev/A/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag04/22/1004/22/10132Genomicunknown
ss2345047181000GENOMES|pilot_1_CEU_4109347_chr8_79864431rev/A/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag05/01/1005/01/10132Genomicunknown
ss2413463121000GENOMES|pilot_1_CHB+JPT_3231389_chr8_79864431rev/A/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag05/01/1005/01/10132Genomicunknown
ss279878968GMI|GMI_AK_SNP_4199239rev/A/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag12/16/1012/16/10137Genomicunknown
ss484351205ILLUMINA|HumanOmni2.5-4v1_D_kgp9860519-0_T_F_1822212403rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact01/30/1210/28/16137Genomicunknown
ss485665309ILLUMINA|HumanOmni2.5-4v1_B_SNP8-79864431-0_T_F_1622331092rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact01/30/1210/29/16137Genomicunknown
ss491414545EXOME_CHIP|.GWAS._130771_chr_8_79701876rev/TA/Gcatcattaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccactgacag03/05/1203/05/12137Genomicunknown
ss536533958ILLUMINA|HumanOmni5-4v1_B_kgp9860519-0_T_F_1822212403rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact06/22/1208/29/15146Genomicunknown
ss560856712TISHKOFF|snp_chr8_79701876rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact11/22/1211/23/12138Genomicunknown
ss655297313SSMP|8_79701876rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact12/14/1202/12/15138Genomicunknown
ss780620908ILLUMINA|HumanOmni25Exome-8v1_A_kgp9860519-0_T_F_1822212403rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact05/30/1307/10/15146Genomicunknown
ss780683799ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs2717536-131_B_F_1990481759rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact05/30/1307/10/15146Genomicunknown
ss782621828ILLUMINA|HumanOmni2.5-4v1_H_kgp9860519-0_T_F_1822212403rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact05/30/1307/29/15146Genomicunknown
ss783357215ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs2717536-131_B_F_1990481759rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact05/31/1306/19/15146Genomicunknown
ss825475106ILLUMINA|HumanCNV370v1_C_rs2717536-123_B_F_IFB1153925566:0rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact06/24/1311/21/14144Genomicunknown
ss836114513ILLUMINA|HumanOmni2.5-8v1_A_kgp9860519-0_T_F_1822212403rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact09/18/1307/29/15146Genomicunknown
ss985705403EVA-GONL|EVA-GONL_rs2717536rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact04/23/1404/25/14142Genomicunknown
ss1075659094JMKIDD_LAB|HGDP_WGS_chr8_79701876rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact07/10/1407/11/14142Genomicunknown
ss13305792121000GENOMES|PHASE3_V1_42955876rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact08/16/1408/16/14142Genomicunknown
ss1431568535DDI|DDI_rs2717536rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact11/04/1411/05/14144Genomicunknown
ss1582754669EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2717536rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact02/19/1502/20/15144Genomicunknown
ss1595306928EVA_DECODE|EVA_DECODE_8_79864431_685647_rs2717536rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact03/02/1503/03/15144Genomicunknown
ss1621019549EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_79701876_23764201rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact03/04/1503/04/15144Genomicunknown
ss1664013582EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_79701876_23764201rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact03/04/1503/04/15144Genomicunknown
ss1713048302EVA_SVP|EVA_SVP_742669rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact03/12/1503/12/15144Genomicunknown
ss1752742881ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs2717536-131_B_F_2060121634rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact05/27/1506/09/15146Genomicunknown
ss1805612421HAMMER_LAB|Hsieh_4627303rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact07/15/1507/16/15146Genomicunknown
ss1917829549ILLUMINA|HumanExome-12v1-1_B_exm-rs2717536-131_B_F_2060121634rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact10/16/1510/16/15147Genomicunknown
ss1928987570WEILL_CORNELL_DGM|SNV:chr8:79701876rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact10/16/1510/17/15147Genomicunknown
ss1946240049ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs2717536-131_B_F_2060121634rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact10/29/1510/29/15147Genomicunknown
ss1959121507ILLUMINA|exm-rs2717536-131_B_F_1990481759rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact11/13/1511/13/15147Genomicunknown
ss1971018833GENOMED|rs2717536rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact02/16/1602/16/16147Genomicunknown
ss2025198768JJLAB|SNP5701323rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact08/29/1608/30/16149Genomicunknown
ss2094833643ILLUMINA|Immuno_BeadChip_11419691_B_rs2717536-131_B_F_1866544924rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact09/27/1609/27/16150Genomicunknown
ss2094991299ILLUMINA|Immuno_BeadChip_11419691_B_1kg_8_79864431-1_T_F_1769716407rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact09/27/1609/27/16150Genomicunknown
ss2095212993ILLUMINA|InfiniumImmunoArray-24v2-0_A_1kg_8_79864431-1_T_F_2310650712rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact09/27/1609/27/16150Genomicunknown
ss2095212994ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs2717536-131_B_F_1866544924rev/TA/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact09/27/1609/27/16150Genomicunknown
ss2153423753USC_VALOUEV|NC_000008.10:g.79701876G>Arev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact11/17/1611/17/16150Genomicunknown
ss2304616933HUMAN_LONGEVITY|HLI-8-78789641-G-Arev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact11/18/1611/18/16150Genomicunknown
ss2474486036TOPMED|8_79701876_G/Arev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact11/20/1611/20/16150Genomicunknown
ss2627076143SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3629116rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact01/06/1701/06/17151Genomicunknown
ss2634766346ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp9860519-0_T_F_182221240rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact02/02/1702/02/17151Genomicunknown
ss2634766347ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2717536-131_B_F_19679002rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact02/02/1702/02/17151Genomicunknown
ss2635184466ILLUMINA|Cancer_BeadChip_11459870_A_rs2717536-128_B_F_1745297722rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact02/02/1702/02/17151Genomicunknown
ss2709197995GRF|rs2717536rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact02/13/1702/13/17151Genomicunknown
ss2868851600GNOMAD|rs2717536rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact05/19/1705/19/17151Genomicunknown
ss2985442066AFFY|Axiom_PsorMich_Affx-32644077rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact05/24/1705/24/17151Genomicunknown
ss3003468768SWEGEN|NC_000008.10:g.79701876G>Arev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact05/30/1705/30/17151Genomicunknown
ss3022857581ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs2717536-131_B_F_1990481759rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact06/28/1706/28/17151Genomicunknown
ss3026384739BIOINF_KMB_FNS_UNIBA|8.78789641G>Arev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact07/05/1707/05/17151Genomicunknown
ss3348261385CSHL|rs2717536rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact10/02/1710/02/17151Genomicunknown
ss3566948109TOPMED|TOPMed_freeze_5?chr8:78,789,641rev/A/Gttaaaaaggccagatgcacaggggagcaggaaggttagtcagggcccact10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2717536|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AAATCTAATG ACTAATCGGT TATAATATAC TTTCACAACT TCCAATATCT TTAACTGTGA
 CTCTATTCCA GAGGCTTTCA CAGATTCAAC TTCTGTCTTT GCACTGACAG CTCTCATATA
 GCCTGAGGTC TACATTTCTC CCATTAACTC TAGGACCATT TAATTCAAAT ATCTAGTAGA
 TATCTCTACC CAGATGTACT ATGGCACCTC ATGCATAATA GTCAACTAAT TGCCATCACA
 TTTAGCCTGT TCCTGCTTCT GTATTCTCTA TCTTAGGTAA TTTTAGCATT TTCCTAGTCT
 TTCAATTCTG AAAGCCTAGA ATCATCTTTG ATGGCCTTCA TCTCATCCAT CACCAAATTC
 TATAGTTTAA TATATCATCT TAACACCTGT ATTATCCATC TATTCTATAG ACTTCTACTA
 CTAGTCTTAG TTCAAGTAGT TGTCAGATCT CACCGGGACC ACTTCTGCAG CTGTCAGTGG
 GCCCTGACTA ACCTTCCTGC
 Y
 TCCCCTGTGC ATCTGGCCTT TTTAATGATG CTTGAGTTAT CTGTCCCGAT TCAAATCTGT
 TACCATTTTT CTTCTTTTTA AAAACTCTTT AATGAAGTAT CTCTCCCCCA GCACCTATCA
 GGATTTGGTC TTGCATTTGA TTGGTTTGCT AACAGAAGTA GCCAAAGAAG GATCAAATTC
 TAGCCAAATA TTGCTTCAAA AATATGTGTA AATAAATGGA CAATGTTTAA ATAATTGTAG
 TTAACAAATA AGGAAAATGT AAATTGATTA CAATAAAAAT TAGTTTTTTA ATATCAATTT
 ATGCTAGAGT AAAATATAAA TTTCCTGTTT ATATGACTCA GTAGCATGAC TAATCAGTTG
 CAATTTAACA AGAGACATTG CTTTTTAAGA GGCAAGGCTT TTTGTTTTAT GAATAACTTT
 TTTCTAGTTA TAAAAATTAA AGAAAAATAG ACTAATTAAA AGATAGAGAC TGCCTGAGTA
 GATTTTAAAA ACCCTACTTT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_008183 AC015480
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs2717536 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss116029439YRI 2IG 1.00000000 0.500000000.50000000
ss11952772HapMap-CEUEuropean 120IG0.866666670.116666670.016666670.250592000.925000010.07500000
HapMap-HCBAsian 80IG0.425000010.474999990.100000000.751830000.662500020.33750001
HapMap-JPTAsian 164IG0.621951220.341463420.036585360.751830000.792682950.20731707
HapMap-YRISub-Saharan African 224IG0.428571430.392857130.178571430.099721000.625000000.37500000
HAPMAP-ASW 96IG0.520833310.312500000.166666670.050043000.677083310.32291666
HAPMAP-CHBAsian 80IG0.574999990.349999990.075000000.751830000.750000000.25000000
HAPMAP-GIH 170IG0.752941190.235294120.011764710.751830000.870588240.12941177
HAPMAP-LWK 174IG0.310344820.482758610.206896561.000000000.551724140.44827586
HAPMAP-MKK 284IG0.394366200.471830990.133802821.000000000.630281690.36971831
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss1330579212EAS 1008AF 0.714299980.28569999
EUR 1006AF 0.925400020.07460000
AFR 1322AF 0.628600000.37140000
AMR 694AF 0.806899960.19309999
SAS 978AF 0.909000040.09100000
ss165075215YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss223799127pilot_1_YRI_low_coverage_panel 118AF 0.644067820.35593221
ss234504718pilot_1_CEU_low_coverage_panel 120AF 0.908333360.09166667
ss23583929AFD_EUR_PANELEuropean 48IG0.875000000.12500000 1.000000000.937500000.06250000
AFD_AFR_PANELAfrican American 46IG0.391304340.565217380.043478260.200325000.673913060.32608697
AFD_CHN_PANELAsian 48IG0.625000000.291666660.083333340.402784000.770833310.22916667
ss241346312pilot_1_CHB+JPT_low_coverage_panel 120AF 0.725000020.27500001

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.338+/-0.2340000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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