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Reference SNP (refSNP) Cluster Report: rs860170                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwithHapMapFreqWith1000GenomeData
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:NA
MAF/MinorAlleleCount:C=0.3119/37822 (ExAC)
C=0.2708/1356 (1000 Genomes)
C=0.2460/3200 (GO-ESP)
C=0.2599/32629 (TOPMED)
HGVS Names
  • CM000669.2:g.122994970C>T
  • NC_000007.13:g.122635024C>T
  • NC_000007.14:g.122994970C>T
  • NG_011980.1:g.5731G>A
  • NM_016945.2:c.665G>A
  • NP_058641.1:p.Arg222His
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 ss279512237 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs860170 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
ss1262949KWOK|OVLP-000804-87913fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt09/02/0010/10/0386Genomic96 %
ss1724863KWOK|OVLP-000925-202659byFreqfwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt10/05/0005/16/0487Genomic97 %
ss3195952YUSUKE|IMS-JST011874byFreqfwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt08/07/0110/10/0398Genomicunknown
ss3802434SC_JCM|AC073311.6_101261rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag09/25/0110/10/03100Genomicunknown
ss11859163WI_SSAHASNP|chr7.NT_007933.12_47811714rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag07/04/0310/10/03116Genomicunknown
ss14763778SC_SNP|NT_007933.13_47811714rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag11/12/0311/22/03120Genomicunknown
ss19708966CSHL-HAPMAP|CSHL-HuDD-200402.chr7.NT_007933.13_47811714rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag02/20/0403/04/04120Genomicunknown
ss22607640SSAHASNP|WGSA-200403-chr7.chr7.NT_007933.13_47811714rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag03/21/0403/21/04121Genomicunknown
ss22915416SSAHASNP|AACC-200403.chr7.NT_007933.13_47811714rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag03/22/0403/22/04121Genomicunknown
ss32475781GOLD|A665G-H222Rfwd/TA/Gctggtcactgcratccaagcatgaaagygccttcactgccctgaggtcccttgccgtctt12/22/04125Genomicunknown
ss43027843ABI|hCV8560176byFreqrev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag07/18/0511/03/06126Genomicunknown
ss48409148APPLERA_GI|hCV8560176byFreqrev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag09/28/0511/03/06126Genomicunknown
ss65732087ILLUMINA|Human1-rs860170fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt10/10/0610/10/06127Genomicunknown
ss66693962ILLUMINA|HumanHap300v1.1_rs860170fwd/BA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt11/09/0611/09/06127Genomicunknown
ss67881998ILLUMINA|HumanHap550v1.1_rs860170fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt11/14/0611/14/06127Genomicunknown
ss68022590ILLUMINA|HumanHap650Yv1.0_rs860170fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt11/14/0611/15/06127Genomicunknown
ss69026996PERLEGEN|PGP04385071byFreqrev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag01/30/0708/14/07127Genomicunknown
ss70975629ILLUMINA|HumanHap550v3.0__rs860170rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag04/20/0703/31/08130Genomicunknown
ss71587216ILLUMINA|HumanHap650Yv3.0_rs860170fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt04/23/0704/23/07127Genomicunknown
ss74806218AFFY|SNP_M-174893fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt08/09/0708/09/07128Genomicunknown
ss75723256ILLUMINA|ILMN_Human_1M_rs860170fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt08/28/0708/29/07129Genomicunknown
ss79284653ILLUMINA|HumanHap300v2.0_rs860170fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt04/18/0711/18/07130Genomicunknown
ss80688682HGSV|Cor18507_SNV_20070510.chr7_122228975rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag11/23/0711/26/07130Genomicunknown
ss83582429KRIBB_YJKIM|KHS495104fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt12/04/0712/05/07130Genomicunknown
ss86206174HGSV|Cor18517_SNV_20070510.chr7_122228975rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag12/06/0712/11/07130Genomicunknown
ss98331888HUMANGENOME_JCVI|1103652690361rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag03/31/0803/31/08130Genomicunknown
ss105568964BGI|BGI_rs860170rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag09/10/0806/18/09130Genomicunknown
ss1124930621000GENOMES|CEU.trio.12.15.2008_1844704_chr7_122422260rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag12/17/0812/17/08130Genomicunknown
ss1143667891000GENOMES|NA19240_2008_12_16_1663232_chr7_122422260rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag12/18/0812/18/08130Genomicunknown
ss116284440ILLUMINA-UK|NA18507_000150326_NCBI36.1_chr7_122422260rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag01/16/0901/17/09130Genomic99 %
ss120037337ILLUMINA|GS0007123-OPA_Ober-rs860170rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag02/24/0902/24/09131Genomicunknown
ss122921815ILLUMINA|HumanCNV370v1_C_rs860170fwd/TA/Gctggtcactgcaatccaagcatgaaagcgccttcactgccctgaggtcccttgccgtctt04/14/0904/15/09131Genomicunknown
ss143570716ENSEMBL|ENSSNP4193219rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag12/08/0810/19/09131Genomicunknown
ss154474720ILLUMINA|Human610_Quadv1_B_rs860170-128_B_R_1501879019rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag06/18/0906/20/09131Genomicunknown
ss155429981GMI|GMI_SNP_77875197rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag06/24/0906/24/09131Genomicunknown
ss159649200ILLUMINA|Human660W-Quad_v1_A_rs860170-128_B_R_1501879019rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag07/06/0907/07/09131Genomicunknown
ss159715597SEATTLESEQ|TAS2R16-122422260rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag07/10/0907/10/09131Genomicunknown
ss160959068ILLUMINA|HumanOmni1-Quad_v1-0_B_rs860170-128_B_R_1501879019rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag08/04/0910/05/09131Genomicunknown
ss162672705COMPLETE_GENOMICS|NA07022_36_chr7_122422260rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag09/28/0909/29/09132Genomicunknown
ss165304637COMPLETE_GENOMICS|NA19240_36_chr7_122422260rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag09/29/0909/30/09132Genomicunknown
ss167064897COMPLETE_GENOMICS|NA20431_36_chr7_122422260rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag09/30/0909/30/09132Genomicunknown
ss172412284ILLUMINA|HumanCNV370-Quadv3_C_rs860170-128_B_R_1501879019rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag10/01/0910/04/09132Genomicunknown
ss174753188ILLUMINA|Human1M-Duov3_B_rs860170-128_B_R_1501879019rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag10/01/0910/05/09132Genomicunknown
ss198199020BUSHMAN|BUSHMAN-chr7-122422259rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag02/16/1003/06/10132Genomicunknown
ss2233069331000GENOMES|pilot_1_YRI_5116616_chr7_122422260rev/C/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag04/22/1004/22/10132Genomicunknown
ss2341492231000GENOMES|pilot_1_CEU_3753852_chr7_122422260rev/C/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag05/01/1005/01/10132Genomicunknown
ss2410667231000GENOMES|pilot_1_CHB+JPT_2951800_chr7_122422260rev/C/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag05/01/1005/01/10132Genomicunknown
ss254648753BL|SNP134789_7_122422260rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag08/19/1008/19/10134Genomicunknown
ss279512237GMI|GMI_AK_SNP_3832484rev/C/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag12/16/1012/16/10137Genomicunknown
ss285709978GMI|GMI_NA10851_SNP_1722751rev/C/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag12/17/1012/17/10138Genomicunknown
ss293957117PJP|SNP_3463475_chr7_122422260rev/C/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag01/21/1101/21/11134Genomicunknown
ss342245796NHLBI-ESP|ESP2500-chr7-122635024byFreqrev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag03/25/1109/05/14134Genomicunknown
ss481812587ILLUMINA|HumanOmni2.5-4v1_B_rs860170-128_B_R_1772910179rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg01/30/1210/29/16137Genomicunknown
ss481845117ILLUMINA|HumanOmniExpress-12v1_C_rs860170-131_B_R_1857533329rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg01/30/1210/27/16137Genomicunknown
ss482805948ILLUMINA|HumanOmni1-Quad_v1-0_C_rs860170-131_B_R_1857533329rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg01/30/1208/28/15146Genomicunknown
ss485700967ILLUMINA|HumanOmni2.5-4v1_D_rs860170-131_B_R_1857533329rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg01/30/1210/28/16137Genomicunknown
ss4909533031000GENOMES|20110521_exome_461101_chr7_122635024rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag02/10/1202/21/12137Genomicunknown
ss491405105EXOME_CHIP|nonsyn_121331_chr_7_122635024rev/BC/Taagacggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtgaccag03/05/1203/05/12137Genomicunknown
ss491914261CLINSEQ_SNP|SNV-chr7-122422260byFreqrev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg03/06/1209/05/14137Genomicunknown
ss537566437ILLUMINA|HumanOmni5-4v1_B_rs860170-131_B_R_1866867992rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg06/22/1208/29/15146Genomicunknown
ss560277134TISHKOFF|snp_chr7_122635024rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg11/22/1211/23/12138Genomicunknown
ss654684110SSMP|7_122635024rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg12/14/1202/11/15138Genomicunknown
ss779000898ILLUMINA|HumanOmni25Exome-8v1_A_rs860170-131_B_R_1866867992rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/30/1307/09/15146Genomicunknown
ss780863737ILLUMINA|HumanOmni25Exome-8v1_A_exm653919-0_B_F_1918583789rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/30/1307/09/15146Genomicunknown
ss783296045ILLUMINA|HumanOmni2.5-4v1_H_rs860170-131_B_R_1857533329rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/30/1307/29/15142Genomicunknown
ss783548311ILLUMINA|HumanOmniExpressExome-8v1_A_exm653919-0_B_F_1918583789rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/31/1306/19/15146Genomicunknown
ss784248518ILLUMINA|HumanOmniExpressExome-8v1_A_rs860170-131_B_R_1866867992rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/31/1306/19/15146Genomicunknown
ss825615171ILLUMINA|HumanCNV370v1_C_rs860170-126_B_R_IFB1156577129:0rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg06/24/1311/21/14144Genomicunknown
ss832557353ILLUMINA|HumanOmniExpress-12v1_H_rs860170-131_B_R_1857533329rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg09/17/1306/19/15144Genomicunknown
ss833160017ILLUMINA|Human660W-Quad_v1_C_rs860170-131_B_R_1857533329rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg09/18/1307/02/15142Genomicunknown
ss833750845ILLUMINA|Human660W-Quad_v1_H_rs860170-131_B_R_1857533329rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg09/18/1307/02/15142Genomicunknown
ss834463256ILLUMINA|HumanOmni2.5-8v1_A_rs860170-131_B_R_1866867992rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg09/18/1307/29/15146Genomicunknown
ss974465652JMKIDD_LAB|KhoeSan_Exomes_chr7_122635024rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg03/06/1403/06/14142Genomicunknown
ss984751083EVA-GONL|EVA-GONL_rs860170rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg04/23/1404/24/14142Genomicunknown
ss1067491703JMKIDD_LAB|HGDP_exomes_chr7_122635024rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg07/09/1407/09/14142Genomicunknown
ss1074947759JMKIDD_LAB|HGDP_WGS_chr7_122635024rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg07/10/1407/11/14142Genomicunknown
ss13269681701000GENOMES|PHASE3_V1_39210833rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg08/16/1408/16/14142Genomicunknown
ss1397505025HAMMER_LAB|HAMMER_LAB_rs860170rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg09/30/1407/15/15146Genomicunknown
ss1431264943DDI|DDI_rs860170rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg11/04/1411/05/14144Genomicunknown
ss1582383590EVA_GENOME_DK|EVA_GENOME_DK_snv_rs860170rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg02/19/1502/20/15144Genomicunknown
ss1584054786EVA_FINRISK|EVA_FINRISK_rs860170rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg02/27/1502/27/15144Genomicunknown
ss1594339414EVA_DECODE|EVA_DECODE_7_122422260_947609_rs860170rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg03/02/1503/03/15144Genomicunknown
ss1619125900EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_7_122635024_21700901rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg03/04/1503/04/15144Genomicunknown
ss1662119933EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_7_122635024_21700901rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg03/04/1503/04/15144Genomicunknown
ss1688926937EVA_EXAC|EVA_EXAC_4003769rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg03/04/1503/04/15144Genomicunknown
ss1711178473EVA_MGP|EVA_XIMO_294233rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg03/09/1503/09/15144Genomicunknown
ss1712984281EVA_SVP|EVA_SVP_678648rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg03/12/1503/12/15144Genomicunknown
ss1752661613ILLUMINA|OmniExpressExome-8v1-1_B_exm653919-0_B_F_1918583789rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/27/1506/09/15146Genomicunknown
ss1752661614ILLUMINA|OmniExpressExome-8v1-1_B_rs860170-131_B_R_1866867992rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/27/1506/09/15146Genomicunknown
ss1805200005HAMMER_LAB|Hsieh_4213229rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg07/15/1507/16/15146Genomicunknown
ss1917821619ILLUMINA|HumanExome-12v1-1_B_exm653919-0_B_F_1918583789rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg10/16/1510/16/15147Genomicunknown
ss1928011957WEILL_CORNELL_DGM|SNV:chr7:122635024rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg10/16/1510/17/15147Genomicunknown
ss1946219589ILLUMINA|HumanCoreExome-12v1-0_C_exm653919-0_B_F_1918583789rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg10/29/1510/29/15147Genomicunknown
ss1959048021ILLUMINA|exm653919-0_B_F_1918583789rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg11/13/1511/13/15147Genomicunknown
ss1970805514GENOMED|rs860170rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg02/16/1602/16/16147Genomicunknown
ss2024690847JJLAB|SNP5193402rev/BC/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg08/29/1608/30/16149Genomicunknown
ss2152913252USC_VALOUEV|NC_000007.13:g.122635024C>Trev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg11/17/1611/17/16150Genomicunknown
ss2297514618HUMAN_LONGEVITY|HLI-7-122994970-C-Trev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg11/18/1611/18/16150Genomicunknown
ss2466975764TOPMED|7_122635024_C/Trev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg11/20/1611/20/16150Genomicunknown
ss2626832774SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3321771rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg01/06/1701/06/17151Genomicunknown
ss2634655146ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs860170-131_B_R_186686799rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg02/02/1702/02/17151Genomicunknown
ss2708629408GRF|rs860170rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg02/13/1702/13/17151Genomicunknown
ss2736734632GNOMAD|exomes_rs860170rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/17/1705/17/17151Genomicunknown
ss2747914239GNOMAD|coding_rs860170rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/17/1705/17/17151Genomicunknown
ss2858629694GNOMAD|rs860170rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/19/1705/19/17151Genomicunknown
ss2985418932AFFY|Axiom_PsorMich_Affx-29618123rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/24/1705/24/17151Genomicunknown
ss2986050681AFFY|Axiom_Smokesc1_Affx-29618123rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/24/1705/24/17151Genomicunknown
ss3001965273SWEGEN|NC_000007.13:g.122635024C>Trev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg05/30/1705/30/17151Genomicunknown
ss3022775502ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm653919-0_B_F_1918583789rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg06/28/1706/28/17151Genomicunknown
ss3023063539EVA_SAMSUNG_MC|EXOMES.7:g122635024c>trev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg07/03/1707/03/17151Genomicunknown
ss3026134545BIOINF_KMB_FNS_UNIBA|7.122994970C>Trev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg07/05/1707/05/17151Genomicunknown
ss3347822876CSHL|rs860170rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg10/02/1710/02/17151Genomicunknown
ss3543306111TOPMED|TOPMed_freeze_5?chr7:122,994,970rev/C/Tggcaagggacctcagggcagtgaaggcgctttcatgcttggattgcagtg10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs860170|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TCGCTTCTGT CTACAGTGGG CATCAATGCT GAACAATTTT TGCTCCTATT TTAATTTGAA
 TTATGTACTT TGCAACTTAA CAATCACCTG GGAATTTTTT AATATCCTTA CATTCTGGTT
 AAACAGCTTG CTTACCGTGT TCTACTGCAT CAAGGTCTCT TCTTTCACCC ATCACATCTT
 TCTCTGGCTG AGGTGGAGAA TTTTGAGGTT GTTTCCCTGG ATATTACTGG GTTCTCTGAT
 GATTACTTGT GTAACAATCA TCCCTTCAGC TATTGGGAAT TACATTCAAA TTCAGTTACT
 CACCATGGAG CATCTACCAA GAAACAGCAC TGTAACTGAC AAACTTGAAA ATTTTCATCA
 GTATCAGTTC CAGGCTCATA CAGTTGCATT GGTTATTCCT TTCATCCTGT TCCTGGCCTC
 CACCATCTTT CTCATGGCAT CACTGACCAA GCAGATACAA CATCATAGCA CTGGTCACTG
 CAATCCAAGC ATGAAAGCGC
 R
 CTTCACTGCC CTGAGGTCCC TTGCCGTCTT ATTTATTGTG TTTACCTCTT ACTTTCTAAC
 CATACTCATC ACCATTATAG GTACTCTATT TGATAAGAGA TGTTGGTTAT GGGTCTGGGA
 AGCTTTTGTC TATGCTTTCA TCTTAATGCA TTCCACTTCA CTGATGCTGA GCAGCCCTAC
 GTTGAAAAGG ATTCTAAAGG GAAAGTGCTA GGCCTAGAGG TTGCCTGAGG CACAGGATAA
 AAGACTCCCG AGCAATTGAT ATAATTAATA CCAGAAGAGA GTATTGCTCT TATCAATCAA
 TTCATTGTGA ATCACCATAA TGCAACCCTC ATTCCCTTCC ATCTTCGCAG CCATGTATTT
 GTAAATAATC AACCCTTTCT CTATCCTTTT CCACTGGTTT CCTTTCCCTT TCACAATCCT
 CAGGTTGGTT CCAACTTGCT CAAGACTGCC CCATCTCTCC TTAGTCCTTG CCAACTCTGG
 AATTGTACAC CTGGTATATT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007933 ABBA01057740 AC004838 AC073311.3 AC073311.5
dbSNP Blast Analysis
UniGene Cluster ID
272395

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs860170 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
C/C
C/T
G/G
T/T
HWPA
C
G
T
ss116284440YRI 2IG1.00000000 1.00000000
ss1326968170EAS 1008AF 0.52180004 0.47820002
EUR 1006AF 0.68589997 0.31410000
AFR 1322AF 0.95309997 0.04690000
AMR 694AF 0.76220000 0.23780000
SAS 978AF 0.66159999 0.33840001
ss143570716ENSEMBL_Venter 2IG1.00000000 1.00000000
ss162672705CEUEuropean 2IG1.00000000 1.00000000
ss165304637YRISub-Saharan African 2IG1.00000000 1.00000000
ss167064897PGP 2IG 1.00000000 0.50000000 0.50000000
ss1688926937ExAc_Aggregated_Populations121410AF 0.68762869 0.31237131
ss1724863CEPH 184AF 0.67000002 0.33000001
EURAME 32GF 0.875000000.12500000 1.00000000 0.93750000 0.06250000
AFRAME 32GF 0.750000000.18750000 0.062500000.25059200 0.84375000 0.15625000
ss198199020BUSHMAN_POP 2IG 1.00000000 0.50000000 0.50000000
ss223306933pilot_1_YRI_low_coverage_panel 118AF 0.98305082 0.01694915
ss234149223pilot_1_CEU_low_coverage_panel 120AF 0.74166667 0.25833333
ss241066723pilot_1_CHB+JPT_low_coverage_panel 120AF 0.50833333 0.49166667
ss3195952JBIC-allele 1266AF 0.54670000 0.45330000
ss342245796ESP_Cohort_Populations 4552GF0.616432310.31678385 0.06678383 0.001000000.77482426 0.22517575
ss43027843HapMap-CEUEuropean 226IG0.504424750.42477876 0.07079646 0.654721000.71681416 0.28318584
HapMap-HCBAsian 86IG0.302325580.37209302 0.32558140 0.099721000.48837209 0.51162791
HapMap-JPTAsian 172IG0.325581400.46511629 0.20930232 0.654721000.55813956 0.44186047
HapMap-YRISub-Saharan African 226IG0.938053070.06194690 1.000000000.96902657 0.03097345
HAPMAP-ASW 98IG0.857142870.14285715 1.000000000.92857140 0.07142857
HAPMAP-CHBAsian 82IG0.268292700.39024389 0.34146342 0.200325000.46341464 0.53658539
HAPMAP-CHD 170IG0.270588250.52941179 0.20000000 0.583882000.53529412 0.46470588
HAPMAP-GIH 176IG0.431818190.46590909 0.10227273 0.751830000.66477275 0.33522728
HAPMAP-LWK 180IG0.899999980.08888889 0.01111111 0.150222000.94444442 0.05555556
HAPMAP-MEX 100IG0.400000010.47999999 0.12000000 1.000000000.63999999 0.36000001
HAPMAP-MKK 286IG0.860139850.13986014 0.751830000.93006992 0.06993007
HAPMAP-TSI 176IG0.488636370.46590909 0.04545455 0.150222000.72159094 0.27840909
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss48409148AGI_ASP populationmultiple 62IG0.548387110.35483870 0.09677419 0.583882000.72580647 0.27419356
ss491914261CSAgilent 1323GF0.447000000.43399999 0.11900000 0.527089000.66400003 0.33600000
ss69026996HapMap-CEUEuropean 120IG0.483333320.48333332 0.03333334 0.150222000.72500002 0.27500001
HapMap-HCBAsian 90IG0.333333340.35555556 0.31111112 0.099721000.51111114 0.48888889
HapMap-JPTAsian 90IG0.288888900.51111114 0.20000000 1.000000000.54444444 0.45555556
HapMap-YRISub-Saharan African 120IG0.933333340.06666667 1.000000000.96666664 0.03333334
ss98331888J. Craig Venter 2IG 1.00000000 0.50000000 0.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.429+/-0.1740000ALFRED: 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
byClusterbyFreqwithHapMapFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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