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Reference SNP (refSNP) Cluster Report: rs697739                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
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=0.4485/2246 (1000 Genomes)
T=0.4498/56480 (TOPMED)
HGVS Names
  • CM000668.2:g.16741802C>T
  • NC_000006.11:g.16742033C>T
  • NC_000006.12:g.16741802C>T
  • NG_011571.1:g.24689G>A
  • NM_000332.3:c.-615+11431G>A
  • NM_001128164.1:c.-615+11431G>A
  • NM_001357857.1:c.-644+11431G>A
  • NR_152111.1:n.309-1884G>A
  • NR_152112.1:n.194-1884G>A
  • NR_152113.1:n.191-1884G>A
  • NR_152114.1:n.240-1884G>A
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 ss278668595 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs697739 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
ss871923KWOK|OVLP-000804-8804rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa09/01/0010/10/0386Genomic99 %
ss876355KWOK|OVLP-000804-31655rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa09/01/0010/10/0386Genomic99 %
ss1047639KWOK|OVLP-000804-21813fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa09/02/0010/10/0386Genomic96 %
ss1866274KWOK|OVLP-000925-48925byFreqfwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa10/06/0010/25/0687Genomic99 %
ss1867355KWOK|OVLP-000925-57200rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa10/06/0010/10/0387Genomic99 %
ss1942875KWOK|OVLP-000925-59391fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa10/06/0010/10/0387Genomic97 %
ss2638254SC_JCM|AL365448.3_130339fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa11/03/0010/10/0389Genomicunknown
ss4992536YUSUKE|IMS-JST165379rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa08/12/0210/10/03108Genomicunknown
ss11832374WI_SSAHASNP|chr6.NT_007592.13_7600284rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa07/04/0310/10/03116Genomicunknown
ss12901636SC_SNP|NT_007592.13_7600284rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa10/21/0310/31/03119Genomicunknown
ss24378530PERLEGEN|afd0268006byFreqrev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa08/10/0409/13/04123Genomicunknown
ss66848769ILLUMINA|HumanHap300v1.1_rs697739fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa11/09/0611/09/06127Genomicunknown
ss67524083ILLUMINA|HumanHap550v1.1_rs697739fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa11/14/0611/14/06127Genomicunknown
ss67891469ILLUMINA|HumanHap650Yv1.0_rs697739fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa11/14/0611/14/06127Genomicunknown
ss68966687PERLEGEN|PGP00268006byFreqrev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa01/30/0708/14/07127Genomicunknown
ss70899553ILLUMINA|HumanHap550v3.0__rs697739fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa04/20/0703/31/08130Genomicunknown
ss71494594ILLUMINA|HumanHap650Yv3.0_rs697739fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa04/23/0704/23/07127Genomicunknown
ss75895977ILLUMINA|ILMN_Human_1M_rs697739fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa08/28/0708/29/07129Genomicunknown
ss77215939HGSV|Cor12156_SNV_20070510.chr6_16850012rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa10/09/0710/11/07129Genomicunknown
ss79240795ILLUMINA|HumanHap300v2.0_rs697739fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa04/18/0711/18/07130Genomicunknown
ss81670454HGSV|Cor18555_SNV_20070510.chr6_16850012rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa11/27/0712/01/07130Genomicunknown
ss83520738KRIBB_YJKIM|KHS481000fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa12/04/0712/05/07130Genomicunknown
ss105982845BGI|BGI_rs697739rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa09/12/0806/18/09130Genomicunknown
ss1097868801000GENOMES|CEU.trio.12.15.2008_1457840_chr6_16850012rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa12/16/0812/16/08130Genomicunknown
ss1139595611000GENOMES|NA19240_2008_12_16_1311997_chr6_16850012rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa12/18/0812/18/08130Genomicunknown
ss116326644ILLUMINA-UK|NA18507_000024871_NCBI36.1_chr6_16850012byFreqrev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa01/17/0909/05/14130Genomic99 %
ss122659896ILLUMINA|HumanCNV370v1_C_rs697739fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa04/14/0904/15/09131Genomicunknown
ss154395821ILLUMINA|Human610_Quadv1_B_rs697739-128_T_F_1501836251fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa06/18/0906/20/09131Genomicunknown
ss156581744GMI|GMI_SNP_77592361rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa06/24/0906/25/09131Genomicunknown
ss159571253ILLUMINA|Human660W-Quad_v1_A_rs697739-128_T_F_1501836251fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa07/06/0907/07/09131Genomicunknown
ss160832518ILLUMINA|HumanOmni1-Quad_v1-0_B_rs697739-128_T_F_1501836251fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa08/04/0910/04/09131Genomicunknown
ss162071521COMPLETE_GENOMICS|NA07022_36_chr6_16850012rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa09/28/0909/28/09132Genomicunknown
ss163195225COMPLETE_GENOMICS|NA19240_36_chr6_16850012rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa09/29/0909/29/09132Genomicunknown
ss172226677ILLUMINA|HumanCNV370-Quadv3_C_rs697739-128_T_F_1501836251fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa10/01/0910/04/09132Genomicunknown
ss174190106ILLUMINA|Human1M-Duov3_B_rs697739-128_T_F_1501836251fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa10/01/0910/04/09132Genomicunknown
ss201470024BUSHMAN|BUSHMAN-chr6-16850011rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa02/16/1003/07/10132Genomicunknown
ss207373119BCM-HGSC-SUB|BCM_CMT_1011-1256857rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa03/15/1003/18/10132Genomicunknown
ss209091843ILLUMINA|ALS_iSelect_272541_A_rs697739-127_T_F_IFB1223188066fwd/TA/Gttcctcccagcgagctgcaaagctgtttcatcatcctagtgattagcagaatgtgagtaa03/24/1003/24/10132Genomicunknown
ss2222326941000GENOMES|pilot_1_YRI_4042377_chr6_16850012rev/C/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa04/22/1004/22/10132Genomicunknown
ss2333403391000GENOMES|pilot_1_CEU_2944968_chr6_16850012rev/C/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa05/01/1005/01/10132Genomicunknown
ss2404219211000GENOMES|pilot_1_CHB+JPT_2306998_chr6_16850012rev/C/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa05/01/1005/01/10132Genomicunknown
ss278668595GMI|GMI_AK_SNP_2988834rev/C/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa12/16/1012/16/10137Genomicunknown
ss285347080GMI|GMI_NA10851_SNP_1359853rev/C/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa12/17/1012/17/10138Genomicunknown
ss293797278PJP|SNP_3303636_chr6_16850012rev/C/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa01/21/1101/21/11134Genomicunknown
ss481419643ILLUMINA|HumanOmni2.5-4v1_B_rs697739-128_T_F_1782958616rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg01/30/1210/28/16137Genomicunknown
ss481446835ILLUMINA|HumanOmniExpress-12v1_C_rs697739-131_T_F_1857113211rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg01/30/1210/27/16137Genomicunknown
ss482427118ILLUMINA|HumanOmni1-Quad_v1-0_C_rs697739-131_T_F_1865524675rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg01/30/1208/28/15146Genomicunknown
ss485504805ILLUMINA|HumanOmni2.5-4v1_D_rs697739-131_T_F_1857113211rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg01/30/1210/28/16137Genomicunknown
ss491378035EXOME_CHIP|.GWAS._94261_chr_6_16742033rev/BC/Tttactcacattctgctaatcactaggatgatgaaacagctttgcagctcgctgggaggaa03/05/1203/05/12137Genomicunknown
ss537417660ILLUMINA|HumanOmni5-4v1_B_rs697739-131_T_F_1885470683rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg06/22/1208/29/15146Genomicunknown
ss559033712TISHKOFF|snp_chr6_16742033rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg11/22/1211/23/12138Genomicunknown
ss652942132SSMP|6_16742033rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg12/14/1202/11/15138Genomicunknown
ss778958811ILLUMINA|HumanOmni25Exome-8v1_A_rs697739-131_T_F_1865524675rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/30/1307/09/15146Genomicunknown
ss780686229ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs697739-131_T_F_1990493559rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/30/1307/09/15146Genomicunknown
ss783197948ILLUMINA|HumanOmni2.5-4v1_H_rs697739-131_T_F_1857113211rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/30/1307/28/15146Genomicunknown
ss783359740ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs697739-131_T_F_1990493559rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/31/1306/19/15146Genomicunknown
ss784152943ILLUMINA|HumanOmniExpressExome-8v1_A_rs697739-131_T_F_1885470683rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/31/1306/19/15146Genomicunknown
ss825571313ILLUMINA|HumanCNV370v1_C_rs697739-123_T_F_IFB1137755435:0rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg06/24/1311/21/14144Genomicunknown
ss832457888ILLUMINA|HumanOmniExpress-12v1_H_rs697739-131_T_F_1857113211rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg09/17/1306/19/15146Genomicunknown
ss834420727ILLUMINA|HumanOmni2.5-8v1_A_rs697739-131_T_F_1865524675rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg09/18/1307/28/15146Genomicunknown
ss982627749EVA-GONL|EVA-GONL_rs697739rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg04/23/1404/24/14142Genomicunknown
ss1073413483JMKIDD_LAB|HGDP_WGS_chr6_16742033rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg07/10/1407/11/14142Genomicunknown
ss13191323081000GENOMES|PHASE3_V1_31043679rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg08/16/1408/16/14142Genomicunknown
ss1430650713DDI|DDI_rs697739rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg11/04/1411/05/14144Genomicunknown
ss1581549425EVA_GENOME_DK|EVA_GENOME_DK_snv_rs697739rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg02/19/1502/20/15144Genomicunknown
ss1592177770EVA_DECODE|EVA_DECODE_6_16850012_141804_rs697739rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg03/02/1503/03/15144Genomicunknown
ss1615038875EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_6_16742033_17201077rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg03/04/1503/04/15144Genomicunknown
ss1658032908EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_6_16742033_17201077rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg03/04/1503/04/15144Genomicunknown
ss1712839431EVA_SVP|EVA_SVP_533798rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg03/12/1503/12/15144Genomicunknown
ss1752616017ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs697739-131_T_F_1990493559rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/27/1506/09/15146Genomicunknown
ss1752616018ILLUMINA|OmniExpressExome-8v1-1_B_rs697739-131_T_F_1885470683rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/27/1506/09/15146Genomicunknown
ss1804299903HAMMER_LAB|Hsieh_3309477rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg07/15/1507/15/15146Genomicunknown
ss1917799559ILLUMINA|HumanExome-12v1-1_B_exm-rs697739-131_T_F_1990493559rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg10/16/1510/16/15147Genomicunknown
ss1925883702WEILL_CORNELL_DGM|SNV:chr6:16742033rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg10/16/1510/17/15147Genomicunknown
ss1946168388ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs697739-131_T_F_1990493559rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg10/29/1510/29/15147Genomicunknown
ss1958866682ILLUMINA|exm-rs697739-131_T_F_1990493559rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg11/13/1511/13/15147Genomicunknown
ss1970321253GENOMED|rs697739rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg02/16/1602/16/16147Genomicunknown
ss2023560608JJLAB|SNP4063163rev/BC/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg08/29/1608/30/16149Genomicunknown
ss2151724113USC_VALOUEV|NC_000006.11:g.16742033C>Trev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg11/17/1611/17/16150Genomicunknown
ss2282113260HUMAN_LONGEVITY|HLI-6-16741802-C-Trev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg11/18/1611/18/16150Genomicunknown
ss2450466008TOPMED|6_16742033_C/Trev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg11/20/1611/20/16150Genomicunknown
ss2626268262SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV2594260rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg01/06/1701/06/17151Genomicunknown
ss2634405938ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs697739-131_T_F_188547068rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg02/02/1702/02/17151Genomicunknown
ss2635154207ILLUMINA|Cancer_BeadChip_11459870_A_rs697739-128_T_F_1782958616rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg02/02/1702/02/17151Genomicunknown
ss2707312216GRF|rs697739rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg02/13/1702/13/17151Genomicunknown
ss2836237602GNOMAD|rs697739rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/18/1705/18/17151Genomicunknown
ss2985354735AFFY|Axiom_PsorMich_Affx-28187932rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/24/1705/24/17151Genomicunknown
ss2998581894SWEGEN|NC_000006.11:g.16742033C>Trev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg05/30/1705/30/17151Genomicunknown
ss3022578800ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs697739-131_T_F_1990493559rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg06/28/1706/28/17151Genomicunknown
ss3025565692BIOINF_KMB_FNS_UNIBA|6.16741802C>Trev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg07/05/1707/05/17151Genomicunknown
ss3346855606CSHL|rs697739rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg10/02/1710/02/17151Genomicunknown
ss3491162414TOPMED|TOPMed_freeze_5?chr6:16,741,802rev/C/Tcacattctgctaatcactaggatgatgaaacagctttgcagctcgctggg10/05/1710/05/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs697739|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GCTTTTATTG GGAGACAGCC TTCATCTAAG GAAGTGGGAA AGAATGTGTT CCCCAGCTGC
 TGCCTTTCTG GTGTCTGATC TGATACTTTT CAAAAGATAG CAGTTTTGTT TGGTTTGATT
 TGGATTTTTT TTTTCTTTTG TAAGTGGTCA TAGACCCATA AGACAAGTTT ATTATTGTAT
 TGACAGAAGA AAAAAATGCC ATGGTTATTT ATTTAAAAAT CTCTTTCCAT ACAACTTTGC
 TTTCTATTGA GTTTGAAGGA AATATGGTGA TGGCATCTAA GCCCAAATTT CGGTGTTTTA
 TTTTGGCTTT CCTGTTCTGT TTAAGCCTCT GTAACCCCTT GAACCTTTCT CTACTCTTCA
 GAAGGAACAA GTTATATTTT TTTTCCATCT CAACATCGTC CAAATGAACC GTACTATTTT
 AACAATCTGT GTAAACAGAT ATAAAAGGAG GAAGACTACT TTCTTTAATT TTCCTCCCAG
 CGAGCTGCAA AGCTGTTTCA
 R
 TCATCCTAGT GATTAGCAGA ATGTGAGTAA TAAACAACAT TAAAATGAAG AAACGTCTTT
 CTGAGTAGGA CCTTGAAATG TGGGTCTCAC CAGTAGTATA TGAGCCTTCC TCAGACTAAA
 CTCCATGACA CAGTTCATAT CATCTTTAAG TCCTGGAGGG AGGGTTTTTT AATATGTGTA
 AATGACCAAA CACAGCTGTT GGCTGTCCTG CTGTACAGAG AACATTCGGT GACCTGAAAT
 CGCAAAGTTT CTGTCTCTGA AGGGTGCACT TAATTTAACT TTTTGCCCTG AAGTCTCAAG
 AAATGAGACT TCCTTTAAAA AAAGTGTTCT TAAAACTTTC TCATTTTAAA TGTCCAGGGT
 CTTCAAAGAG TATACTGGGA GGAAAGTCCT GTGTTTCCTG TTTCTCTTGT AGGACTAGTC
 AAAAGTACCC TTTCTCTTGA TGGTATTCTG CAGTCTGAGC CTCTGATTTA GTAACTACAG
 CCTTTAAAAC CACAGTTATC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023425.1 AC002112 AL136117 AL137003 AL365448.1 AL365448.3
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs697739 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA
A/A
A/G
G
G/G
N
HWPA
G
N
ss116326644HapMap-CEUEuropean 224IG 0.098214280.53571427 0.36607143 0.150222000.366071430.63392860
HapMap-HCBAsian 86IG 0.558139560.44186047 0.250592000.779069780.22093023
HapMap-JPTAsian 172IG 0.569767420.36046511 0.06976745 0.751830000.750000000.25000000
HapMap-YRISub-Saharan African 226IG 0.424778760.45132744 0.12389380 1.000000000.650442480.34955752
HAPMAP-ASW 98IG 0.448979590.40816328 0.14285715 0.527089000.653061210.34693879
HAPMAP-CHBAsian 82IG 0.658536610.26829270 0.07317073 0.250592000.792682950.20731707
HAPMAP-CHD 170IG 0.611764730.34117648 0.04705882 1.000000000.782352920.21764706
HAPMAP-GIH 176IG 0.170454550.45454547 0.37500000 0.654721000.397727280.60227275
HAPMAP-LWK 180IG 0.477777780.40000001 0.12222222 0.438578000.677777770.32222223
HAPMAP-MEX 100IG 0.200000000.51999998 0.28000000 0.751830000.460000010.54000002
HAPMAP-MKK 286IG 0.258741260.53146851 0.20979021 0.438578000.524475510.47552449
HAPMAP-TSI 176IG 0.090909090.43181819 0.47727272 1.000000000.306818190.69318181
ENSEMBL_Watson 2IG 1.00000000 1.00000000
YRI 2IG 1.00000000 0.500000000.50000000
ss1319132308EAS 1008AF 0.782700000.21730001
EUR 1006AF 0.318100010.68189996
AFR 1322AF 0.661099970.33890000
AMR 694AF 0.510100010.48989999
SAS 978AF 0.434600000.56540000
ss162071521CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss163195225YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss1866274CHMJAsian 74IG0.75675678 0.22972973 0.01351351 0.756756780.229729730.01351351
ss222232694pilot_1_YRI_low_coverage_panel 118AF 0.576271180.42372882
ss233340339pilot_1_CEU_low_coverage_panel 120AF 0.333333340.66666669
ss240421921pilot_1_CHB+JPT_low_coverage_panel 120AF 0.750000000.25000000
ss24378530AFD_EUR_PANELEuropean 48IG 0.166666670.50000000 0.33333334 1.000000000.416666660.58333331
AFD_AFR_PANELAfrican American 46IG 0.391304340.43478259 0.17391305 0.751830000.608695630.39130434
AFD_CHN_PANELAsian 48IG 0.500000000.45833334 0.04166667 0.438578000.729166690.27083334
ss68966687HapMap-CEUEuropean 120IG 0.083333340.48333332 0.43333334 0.438578000.324999990.67500001
HapMap-HCBAsian 90IG 0.577777800.42222223 0.273322000.788888870.21111111
HapMap-JPTAsian 90IG 0.511111140.42222223 0.06666667 0.751830000.722222210.27777779
HapMap-YRISub-Saharan African 120IG 0.349999990.46666667 0.18333334 1.000000000.583333310.41666666

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.495+/-0.0510000ALFRED: 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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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