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Reference SNP (refSNP) Cluster Report: rs660339                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:A=0.4113/49751 (ExAC)
A=0.4161/2084 (1000 Genomes)
A=0.4178/5426 (GO-ESP)
A=0.4250/53367 (TOPMED)
HGVS Names
  • CM000673.2:g.73978059G>A
  • NC_000011.10:g.73978059G>A
  • NC_000011.9:g.73689104G>A
  • NG_011478.1:g.9786C>T
  • NM_003355.2:c.164C>T
  • NP_003346.2:p.Ala55Val
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 ss281065208 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs660339 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
ss833497SC_JCM|AC019121.3_170088byFreqfwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac07/27/0004/07/0483Genomicunknown
ss1117338KWOK|OVLP-000804-290782fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac09/02/0010/10/0386Genomic99 %
ss1525846LEE|425776fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac09/13/0010/10/0392cDNAunknown
ss1999773KWOK|OVLP-000925-273135fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac10/06/0010/10/0387Genomic99 %
ss2419897HGBASE|SNP000000199fwd/BC/Tagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatg11/07/0010/10/0389Genomicunknown
ss2990934YUSUKE|IMS-JST003515byFreqfwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac05/24/0110/25/0696Genomicunknown
ss3173184WIAF-CSNP|WIAF-12211byFreqfwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac06/19/0104/07/04126cDNAunknown
ss16248425CGAP-GAI|1495058fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac11/18/0311/22/03120cDNAunknown
ss28502661IMCJ-GDT|IMCJ-UCP2_1-CTfwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac08/20/0408/20/04126Genomicunknown
ss65728917ILLUMINA|Human1-rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac10/10/0610/10/06127Genomicunknown
ss65836412KRIBB_YJKIM|KHS12204byFreqfwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac10/17/0612/16/06127Genomicunknown
ss66688066ILLUMINA|HumanHap300v1.1_rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac11/09/0611/09/06127Genomicunknown
ss67478635ILLUMINA|HumanHap550v1.1_rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac11/14/0611/14/06127Genomicunknown
ss67835083ILLUMINA|HumanHap650Yv1.0_rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac11/14/0611/14/06127Genomicunknown
ss69320500PERLEGEN|PGP04122254byFreqrev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc01/30/0708/14/07127Genomicunknown
ss69355632BROAD_DGAP|Broad11891072byFreqrev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc02/16/0703/31/08127Genomicunknown
ss70454431EGP_SNPS|UCP2-006787byFreqfwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac04/18/0708/14/07127Genomicunknown
ss70876482ILLUMINA|HumanHap550v3.0__rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac04/20/0703/31/08130Genomicunknown
ss71466294ILLUMINA|HumanHap650Yv3.0_rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac04/23/0704/23/07127Genomicunknown
ss75576689ILLUMINA|ILMN_Human_1M_rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac08/28/0708/29/07129Genomicunknown
ss79227928ILLUMINA|HumanHap300v2.0_rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac04/18/0711/18/07130Genomicunknown
ss83510506KRIBB_YJKIM|KHS478651fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac12/04/0712/05/07130Genomicunknown
ss86272680CORNELL|hCV903746byFreqrev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc01/21/0809/05/14129Genomicunknown
ss106751977BGI|BGI_rs660339rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc09/16/0810/20/09130Genomicunknown
ss1106564541000GENOMES|CEU.trio.12.15.2008_2570329_chr11_73366752rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc12/17/0812/17/08130Genomicunknown
ss1147867231000GENOMES|NA19240_2008_12_16_2315967_chr11_73366752rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc12/18/0812/18/08130Genomicunknown
ss119893428ILLUMINA-UK|NA18507_000092762_NCBI36.1_chr11_73366752rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc01/21/0902/05/09131Genomic99 %
ss122582925ILLUMINA|HumanCNV370v1_C_rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac04/14/0904/15/09131Genomicunknown
ss154371861ILLUMINA|Human610_Quadv1_B_rs660339-128_B_F_1501819901fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac06/18/0906/20/09131Genomicunknown
ss159547938ILLUMINA|Human660W-Quad_v1_A_rs660339-128_B_F_1501819901fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac07/06/0907/07/09131Genomicunknown
ss159724339SEATTLESEQ|UCP2-73366752rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc07/10/0907/10/09131Genomicunknown
ss160791901ILLUMINA|HumanOmni1-Quad_v1-0_B_rs660339-128_B_F_1501819901fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac08/04/0910/04/09131Genomicunknown
ss168565643COMPLETE_GENOMICS|NA07022_36_chr11_73366752rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc09/30/0910/01/09132Genomicunknown
ss170240941COMPLETE_GENOMICS|NA19240_36_chr11_73366752rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc10/01/0910/01/09132Genomicunknown
ss172161187ILLUMINA|HumanCNV370-Quadv3_C_rs660339-128_B_F_1501819901fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac10/01/0910/04/09132Genomicunknown
ss174047206ILLUMINA|Human1M-Duov3_B_rs660339-128_B_F_1501819901fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac10/01/0910/04/09132Genomicunknown
ss175184837COMPLETE_GENOMICS|NA20431_36_chr11_73366752rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc10/01/0910/05/09132Genomicunknown
ss202877916BUSHMAN|BUSHMAN-chr11-73366751rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc02/16/1003/08/10132Genomicunknown
ss2253131091000GENOMES|pilot_1_YRI_7122792_chr11_73366752rev/A/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc04/22/1004/22/10132Genomicunknown
ss2356112471000GENOMES|pilot_1_CEU_5215876_chr11_73366752rev/A/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc05/01/1005/01/10132Genomicunknown
ss2422333071000GENOMES|pilot_1_CHB+JPT_4118384_chr11_73366752rev/A/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc05/01/1005/01/10132Genomicunknown
ss244305672ILLUMINA|CVDSNP55v1_A_rs660339fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac06/10/1006/10/10132Genomicunknown
ss255277015BL|SNP95173_11_73366752rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc08/19/1008/20/10134Genomicunknown
ss281065208GMI|GMI_AK_SNP_5385597rev/A/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc12/16/1012/16/10137Genomicunknown
ss286406998GMI|GMI_NA10851_SNP_2419787rev/A/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc12/17/1012/17/10138Genomicunknown
ss342336008NHLBI-ESP|ESP2500-chr11-73689104byFreqrev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc03/25/1109/05/14134Genomicunknown
ss481298634ILLUMINA|HumanOmni2.5-4v1_B_rs660339-128_B_F_1690743087rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact01/30/1210/28/16137Genomicunknown
ss481323457ILLUMINA|HumanOmniExpress-12v1_C_rs660339-128_B_F_1690743087rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact01/30/1210/27/16137Genomicunknown
ss482306030ILLUMINA|HumanOmni1-Quad_v1-0_C_rs660339-128_B_F_1690743087rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact01/30/1208/28/15146Genomicunknown
ss485444550ILLUMINA|HumanOmni2.5-4v1_D_rs660339-128_B_F_1690743087rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact01/30/1210/27/16137Genomicunknown
ss4910251341000GENOMES|20110521_exome_532932_chr11_73689104rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc02/10/1202/22/12137Genomicunknown
ss491456015EXOME_CHIP|nonsyn_172241_chr_11_73689104rev/TA/Ggtgcccatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgactttctc03/05/1203/05/12137Genomicunknown
ss491650573CLINSEQ_SNP|SNV-chr11-73366752byFreqrev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact03/06/1209/05/14137Genomicunknown
ss535148896ILLUMINA|HumanOmni5-4v1_B_kgp281687-0_T_F_1797956055rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact06/22/1208/29/15146Genomicunknown
ss562650208TISHKOFF|snp_chr11_73689104rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact11/22/1211/23/12138Genomicunknown
ss658165972SSMP|11_73689104rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact12/14/1202/12/15138Genomicunknown
ss780901569ILLUMINA|HumanOmni25Exome-8v1_A_exm940274-0_B_R_1918237471rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/30/1307/10/15146Genomicunknown
ss783167728ILLUMINA|HumanOmni2.5-4v1_H_rs660339-128_B_F_1690743087rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/30/1307/29/15146Genomicunknown
ss783588706ILLUMINA|HumanOmniExpressExome-8v1_A_exm940274-0_B_R_1918237471rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/31/1306/18/15146Genomicunknown
ss825558446ILLUMINA|HumanCNV370v1_C_rs660339-126_B_F_IFB1135718370:0rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact06/24/1311/21/14144Genomicunknown
ss832427205ILLUMINA|HumanOmniExpress-12v1_H_rs660339-128_B_F_1690743087rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact09/17/1306/18/15146Genomicunknown
ss974480338JMKIDD_LAB|KhoeSan_Exomes_chr11_73689104rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact03/06/1403/06/14142Genomicunknown
ss988674470EVA-GONL|EVA-GONL_rs660339rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact04/23/1404/25/14142Genomicunknown
ss1067526330JMKIDD_LAB|HGDP_exomes_chr11_73689104rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact07/09/1407/09/14142Genomicunknown
ss1077832568JMKIDD_LAB|HGDP_WGS_chr11_73689104rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact07/10/1407/12/14142Genomicunknown
ss13418807281000GENOMES|PHASE3_V1_54712656rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact08/16/1408/16/14142Genomicunknown
ss1426675513DDI|DDI_rs660339rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact11/04/1411/04/14144Genomicunknown
ss1457615703CLINVAR|SCV000153458fwd/BC/Tgagaaagtcaggggccagtgcgcgctacagcagcgcccagtaccgcggtgtgatgggcac11/23/1411/23/14142Genomicunknown
ss1575793085EVA_GENOME_DK|EVA_GENOME_DK_snv_rs660339rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact02/19/1502/19/15144Genomicunknown
ss1584076864EVA_FINRISK|EVA_FINRISK_rs660339rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact02/27/1502/27/15144Genomicunknown
ss1598335661EVA_DECODE|EVA_DECODE_11_73366752_545452_rs660339rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact03/02/1503/04/15144Genomicunknown
ss1626892952EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_11_73689104_30207514rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact03/04/1503/04/15144Genomicunknown
ss1669886985EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_11_73689104_30207514rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact03/04/1503/04/15144Genomicunknown
ss1690542807EVA_EXAC|EVA_EXAC_5740636rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact03/04/1503/04/15144Genomicunknown
ss1711301995EVA_MGP|EVA_XIMO_417755rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact03/09/1503/09/15144Genomicunknown
ss1713264078EVA_SVP|EVA_SVP_958445rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact03/12/1503/12/15144Genomicunknown
ss1752031572ILLUMINA|OmniExpressExome-8v1-1_B_exm940274-0_B_R_1918237471rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/27/1506/09/15146Genomicunknown
ss1752031573ILLUMINA|OmniExpressExome-8v1-1_B_rs660339-128_B_F_1893926341rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/27/1506/09/15146Genomicunknown
ss1806876111HAMMER_LAB|Hsieh_5895995rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact07/15/1507/16/15146Genomicunknown
ss1917863742ILLUMINA|HumanExome-12v1-1_B_exm940274-0_B_R_1918237471rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact10/16/1510/16/15147Genomicunknown
ss1932032223WEILL_CORNELL_DGM|SNV:chr11:73689104rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact10/16/1510/17/15147Genomicunknown
ss1946316037ILLUMINA|HumanCoreExome-12v1-0_C_exm940274-0_B_R_1918237471rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact10/29/1510/29/15147Genomicunknown
ss1959365046ILLUMINA|exm940274-0_B_R_1918237471rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact11/13/1511/13/15147Genomicunknown
ss2026760275JJLAB|SNP7262830rev/TA/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact08/29/1608/30/16149Genomicunknown
ss2155070992USC_VALOUEV|NC_000011.9:g.73689104G>Arev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact11/17/1611/17/16150Genomicunknown
ss2183532659HUMAN_LONGEVITY|HLI-11-73978059-G-Arev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact11/18/1611/18/16150Genomicunknown
ss2347018960TOPMED|11_73689104_G/Arev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact11/19/1611/19/16150Genomicunknown
ss2627853830SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4610287rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact01/06/1701/06/17151Genomicunknown
ss2632850687ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs660339-128_B_F_189392634rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact02/02/1702/02/17151Genomicunknown
ss2699365834GRF|rs660339rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact02/13/1702/13/17151Genomicunknown
ss2739242898GNOMAD|exomes_rs660339rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/17/1705/17/17151Genomicunknown
ss2748695228GNOMAD|coding_rs660339rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/17/1705/17/17151Genomicunknown
ss2901398149GNOMAD|rs660339rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/22/1705/22/17151Genomicunknown
ss2984949879AFFY|Axiom_PsorMich_Affx-5898983rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/24/1705/24/17151Genomicunknown
ss2985592067AFFY|Axiom_Smokesc1_Affx-5898983rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/24/1705/24/17151Genomicunknown
ss3008344984SWEGEN|NC_000011.9:g.73689104G>Arev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact05/30/1705/30/17151Genomicunknown
ss3021352832ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm940274-0_B_R_1918237471rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact06/28/1706/28/17151Genomicunknown
ss3023066985EVA_SAMSUNG_MC|EXOMES.11:g73689104g>arev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact07/03/1707/03/17151Genomicunknown
ss3027177354BIOINF_KMB_FNS_UNIBA|11.73978059G>Arev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact07/05/1707/05/17151Genomicunknown
ss3149358899TOPMED|TOPMed_freeze_5?chr11:73,978,059rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact09/30/1709/30/17151Genomicunknown
ss3349667093CSHL|rs660339rev/A/Gcatcacaccgcggtactgggcgctgctgtagcgcgcactggcccctgact10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs660339|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TAGGGAAGGT GAGTTTGGGG ATGGTGAGCA GGGAGGGCCT GGGGACATTG TGGCTAATGG
 GGCTTTTCTC CTCTTGGCTT AGATTCCGGC AGAGTTCCTC TATCTCGTCT TGTTGCTGAT
 TAAAGGTGCC CCTGTCTCCA GTTTTTCTCC ATCTCCTGGG ACGTAGCAGG AAATCAGCAT
 CATGGTTGGG TTCAAGGCCA CAGATGTGCC CCCTACTGCC ACTGTGAAGT TTCTTGGGGC
 TGGCACAGCT GCCTGCATCG CAGATCTCAT CACCTTTCCT CTGGATACTG CTAAAGTCCG
 GTTACAGGTG AGGGGATGAA GCCTGGGAGT CTTGATGGTG TCTACTCTGT TCCCTCCCCA
 AAGACACAGA CCCCTCAAGG GCCAGTGTTT GGAGCATCGA GATGACTGGA GGTGGGAAGG
 GCAACATGCT TATCCCTGTA GCTACCCTGT CTTGGCCTTG CAGATCCAAG GAGAAAGTCA
 GGGGCCAGTG CGCGCTACAG
 Y
 CAGCGCCCAG TACCGCGGTG TGATGGGCAC CATTCTGACC ATGGTGCGTA CTGAGGGCCC
 CCGAAGCCTC TACAATGGGC TGGTTGCCGG CCTGCAGCGC CAAATGAGCT TTGCCTCTGT
 CCGCATCGGC CTGTATGATT CTGTCAAACA GTTCTACACC AAGGGCTCTG AGCGTGAGTA
 TGGAGCAAGG GTGTAGGCCC CTTGGCCCTT TTTTCTCAGT GATGATTGAT CTTAGTTCAT
 TCAGCCATAT AGTTTTTTAG GCCCCACGAT CCCTAGGAAG ATCAGGGGAA CAGAGAACTG
 GAAGGGGCCC TGGTCCTCCA CATAGTTCCT AAGCACCTGG GCTATACCAG GCTCTGAGCA
 GGGCGTCATC CCATCACAGT CTTCAACACC ACCTTGGGAG TAGGTAGTAT CATCCCAGTG
 TTATAGAAGA AGAGACTGAG GTGGGAAGGC AGTGGGTAGA GTGGGGACTT GGCCAGGGGC
 ACACAGTAGA GAGCCAGAAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
U94592 AC024029 AC024029.3 BE795302 Hs.80658
dbSNP Blast Analysis
UniGene Cluster ID
80658
3D structure mapping
NP_003346  

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs660339 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
ss119893428YRI 2IG 1.00000000 0.50000000 0.50000000
ss1341880728EAS 1008AF 0.58229995 0.41769999
EUR 1006AF 0.59540004 0.40459999
AFR 1322AF 0.55299997 0.44700003
AMR 694AF 0.55910003 0.44090000
SAS 978AF 0.63290000 0.36710000
ss168565643CEUEuropean 2IG 1.00000000 1.00000000
ss1690542807ExAc_Aggregated_Populations121412AF 0.58901095 0.41098902
ss170240941YRISub-Saharan African 2IG 1.00000000 0.50000000 0.50000000
ss175184837PGP 2IG 1.00000000 1.00000000
ss225313109pilot_1_YRI_low_coverage_panel 118AF 0.51694918 0.48305085
ss235611247pilot_1_CEU_low_coverage_panel 120AF 0.65833336 0.34166667
ss242233307pilot_1_CHB+JPT_low_coverage_panel 120AF 0.53333336 0.46666667
ss2990934JBIC-allele 1500AF 0.50000000 0.50000000
ss3173184WIAF-CSNP-MITOGPOP5multiple 58IG 0.275862070.55172414 0.172413800.58388200 0.55172414 0.44827586
ss342336008ESP_Cohort_Populations 4522GF 0.322423700.50066340 0.176912870.29426600 0.57275540 0.42724457
ss491650573CSAgilent 1238GF 0.390390370.44844845 0.161161150.20032500 0.61461461 0.38538539
ss65836412KHP1 172AF 0.383720930.44186047 0.174418600.52708900 0.60465115 0.39534885
ss69320500HapMap-CEUEuropean 120IG 0.400000010.46666667 0.133333341.00000000 0.63333333 0.36666667
HapMap-HCBAsian 90IG 0.377777790.40000001 0.222222220.25059200 0.57777780 0.42222223
HapMap-JPTAsian 90IG 0.266666680.57777780 0.155555560.25421300 0.55555558 0.44444445
HapMap-YRISub-Saharan African 120IG 0.250000000.53333336 0.216666670.65472100 0.51666665 0.48333332
ss69355632HapMap-CEUEuropean 226IG 0.327433620.50442475 0.168141590.75183000 0.57964599 0.42035398
HapMap-HCBAsian 86IG 0.348837200.39534885 0.255813960.20032500 0.54651165 0.45348838
HapMap-JPTAsian 172IG 0.186046510.54651165 0.267441870.37109300 0.45930234 0.54069769
HapMap-YRISub-Saharan African 226IG 0.265486720.51327431 0.221238941.00000000 0.52212387 0.47787610
HAPMAP-ASW 98IG 0.387755100.36734694 0.244897960.09972100 0.57142860 0.42857143
HAPMAP-CHBAsian 82IG 0.170731710.56097561 0.268292700.40278400 0.45121950 0.54878050
HAPMAP-CHD 170IG 0.294117660.55294120 0.152941180.25059200 0.57058823 0.42941177
HAPMAP-GIH 176IG 0.477272720.45454547 0.068181820.40278400 0.70454544 0.29545453
HAPMAP-LWK 180IG 0.311111120.60000002 0.088888890.02002200 0.61111110 0.38888890
HAPMAP-MEX 100IG 0.360000010.51999998 0.120000000.47950000 0.62000000 0.38000000
HAPMAP-MKK 286IG 0.300699290.55944055 0.139860140.09972100 0.58041960 0.41958043
HAPMAP-TSI 176IG 0.420454530.47727272 0.102272730.58388200 0.65909094 0.34090909
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss70454431EGP_YORUB-PANELSub-Saharan African 24IG 0.416666660.41666666 0.166666670.75183000 0.62500000 0.37500000
EGP_HISP-PANELHispanic 44IG 0.227272730.45454547 0.318181810.75183000 0.45454547 0.54545456
EGP_CEPH-PANELEuropean 44IG 0.363636370.45454547 0.181818191.00000000 0.59090906 0.40909091
EGP_AD-PANELAfrican American 28IG 0.357142870.42857143 0.214285720.65472100 0.57142860 0.42857143
EGP_ASIAN-PANELAsian 48IG 0.250000000.50000000 0.25000000 0.50000000 0.50000000
ss833497SC_12_AAsian 24IG 0.333333340.16666667 0.500000000.02505600 0.41666666 0.58333331
SC_12_AAAfrican American 22IG 0.636363630.36363637 0.75183000 0.81818181 0.18181819
SC_12_CEuropean 8IG 0.571428600.42857143 0.75000000 0.25000000
SC_95_CEuropean 94IG0.191489370.48936170 0.31914893 1.000000000.43617022 0.56382978
CEPH 184AF 0.63999999 0.36000004
ss86272680AGI_ASP_populationmultiple 74IG 0.486486490.40540540 0.108108110.75183000 0.68918920 0.31081080

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.484+/-0.0870000ALFRED: 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
UNKNOWNYESYES

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