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Reference SNP (refSNP) Cluster Report: rs2069763                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.3461/41361 (ExAC)
A=0.2987/1496 (1000 Genomes)
A=0.2575/3349 (GO-ESP)
A=0.2809/35266 (TOPMED)
HGVS Names
  • CM000666.2:g.122456327C>A
  • NC_000004.11:g.123377482C>A
  • NC_000004.12:g.122456327C>A
  • NG_016779.1:g.5169G>T
  • NM_000586.3:c.114G>T
  • NP_000577.2:p.Leu38=
  • XP_016863666.1:p.Leu38=
Links
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 ss277907694 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2069763 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
ss2981873PGA-UW-FHCRC|IL2-000993byFreqfwd/BG/Tgaaaacacagctacaactggagcatttactctggatttacagatgattttgaatggaatt05/18/0104/07/0496Genomicunknown
ss3253882YUSUKE|IMS-JST063967byFreqfwd/BG/Tgaaaacacagctacaactggagcatttactctggatttacagatgattttgaatggaatt09/05/0110/10/03100Genomicunknown
ss6675846WI_SSAHASNP|NT_016354.13_12065543rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc02/12/0310/10/03111Genomicunknown
ss16383708FHCRC|AAG041_2140byFreqfwd/BG/Tgaaaacacagctacaactggagcatttactctggatttacagatgattttgaatggaatt02/11/0404/07/04120Genomicunknown
ss23953999PERLEGEN|afd4300273byFreqrev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc08/10/0409/13/04123Genomicunknown
ss48295138SNP500CANCER|IL2-03byFreqfwd/BG/Tgaaaacacagctacaactggagcatttackctggatttacagatgattttgaatggaatt08/19/0511/03/06126Genomicunknown
ss52087608PGA-UW-FHCRC|IL2_000993byFreqfwd/BG/Tgaaaacacagctacaactggagcatttactctggatttacagatgattttgaatggaatt04/28/0608/14/07127Genomicunknown
ss69356077JDRF_WT_DIL|DIL4238fwd/BG/Tgaaaacacagctacaactggagcatttactctggatttacagatgattttgaatggaatt02/16/0702/16/07127Genomicunknown
ss76865440CGM_KYOTO|5502rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc09/12/0709/12/07129cDNAunknown
ss78410881HGSV|Cor12878_SNV_20070510.chr4_123735087rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc10/17/0710/19/07129Genomicunknown
ss83545636HGSV|Cor18956_SNV_20070510.chr4_123735087rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc11/30/0712/05/07130Genomicunknown
ss86239208CORNELL|hCV15859920byFreqrev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc01/21/0809/05/14129Genomicunknown
ss92756539BCMHGSC_JDW|JWB-1845482rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc02/26/0803/03/08129Genomicunknown
ss104112543BGI|BGI_rs2069763rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc06/07/0806/18/09131Genomicunknown
ss1082965681000GENOMES|CEU.trio.12.15.2008_1074927_chr4_123596932rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc12/15/0812/15/08130Genomicunknown
ss120247381VANHEEL_LAB_LONDON|OID13781_NCBI36_chr4_123596932rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc03/24/0903/24/09131Genomicunknown
ss120253533WTCCC|NT_016354.18_47925629rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc04/10/0904/24/09131Genomicunknown
ss157840418GMI|GMI_SNP_136313115rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc06/24/0906/25/09131Genomicunknown
ss159708392SEATTLESEQ|IL2-123596932rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc07/10/0907/10/09131Genomicunknown
ss162505256COMPLETE_GENOMICS|NA07022_36_chr4_123596932rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc09/28/0909/29/09132Genomicunknown
ss173094289ILLUMINA|Human1M-Duov3_B_rs2069763-128_T_R_1510674548rev/TA/Caattccattcaaaatcatctgtaaatccagkgtaaatgctccagttgtagctgtgttttc10/01/0910/03/09132Genomicunknown
ss2211852051000GENOMES|pilot_1_YRI_2994888_chr4_123596932rev/A/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc04/22/1004/22/10132Genomicunknown
ss2325782541000GENOMES|pilot_1_CEU_2182883_chr4_123596932rev/A/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc05/01/1005/01/10132Genomicunknown
ss2398286591000GENOMES|pilot_1_CHB+JPT_1713736_chr4_123596932rev/A/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc05/01/1005/01/10132Genomicunknown
ss253484483BL|SNP136538_4_123596932rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc08/18/1008/18/10134Genomicunknown
ss277907694GMI|GMI_AK_SNP_2227927rev/A/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc12/16/1012/16/10137Genomicunknown
ss284996883GMI|GMI_NA10851_SNP_1009656rev/A/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc12/17/1012/17/10138Genomicunknown
ss293178301PJP|SNP_2684659_chr4_123596932rev/A/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc01/21/1101/21/11134Genomicunknown
ss342170888NHLBI-ESP|ESP2500-chr4-123377482byFreqrev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc03/25/1109/05/14134Genomicunknown
ss479565200ILLUMINA|HumanOmni2.5-4v1_D_kgp11108643-0_B_R_1811267399rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg01/30/1210/28/16137Genomicunknown
ss480409039ILLUMINA|HumanOmni2.5-4v1_B_rs2069763-128_T_R_1735647107rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg01/30/1210/28/16137Genomicunknown
ss480422315ILLUMINA|HumanOmniExpress-12v1_C_rs2069763-128_T_R_1735647107rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg01/30/1210/27/16137Genomicunknown
ss481204433ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2069763-128_T_R_1735647107rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg01/30/1208/28/15146Genomicunknown
ss484688182ILLUMINA|HumanOmni2.5-4v1_B_SNP4-123596932-0_B_R_1633008351rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg01/30/1210/28/16137Genomicunknown
ss485002065ILLUMINA|HumanOmni2.5-4v1_D_rs2069763-128_T_R_1735647107rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg01/30/1210/28/16137Genomicunknown
ss4908942291000GENOMES|20110521_exome_402027_chr4_123377482rev/TA/Caattccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtgttttc02/10/1202/21/12137Genomicunknown
ss491859571CLINSEQ_SNP|SNV-chr4-123596932byFreqrev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg03/06/1209/05/14137Genomicunknown
ss537033642ILLUMINA|HumanOmni5-4v1_B_rs2069763-128_T_R_1908326592rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg06/22/1208/28/15146Genomicunknown
ss557821097TISHKOFF|snp_chr4_123377482rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg11/22/1211/23/12138Genomicunknown
ss651630626SSMP|4_123377482rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg12/14/1202/10/15138Genomicunknown
ss778479529ILLUMINA|HumanOmni25Exome-8v1_A_rs2069763-128_T_R_1735647107rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/30/1307/09/15142Genomicunknown
ss778659358ILLUMINA|HumanOmni25Exome-8v1_A_kgp11108643-0_B_R_1811267399rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/30/1307/09/15146Genomicunknown
ss781013097ILLUMINA|HumanOmni2.5-4v1_H_kgp11108643-0_B_R_1811267399rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/30/1307/28/15146Genomicunknown
ss782947333ILLUMINA|HumanOmni2.5-4v1_H_rs2069763-128_T_R_1735647107rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/30/1307/28/15142Genomicunknown
ss783909778ILLUMINA|HumanOmniExpressExome-8v1_A_rs2069763-128_T_R_1908326592rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/31/1306/19/15142Genomicunknown
ss832203182ILLUMINA|HumanOmniExpress-12v1_H_rs2069763-128_T_R_1735647107rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg09/17/1306/18/15144Genomicunknown
ss833935388ILLUMINA|HumanOmni2.5-8v1_A_rs2069763-128_T_R_1735647107rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg09/18/1307/28/15142Genomicunknown
ss834117492ILLUMINA|HumanOmni2.5-8v1_A_kgp11108643-0_B_R_1811267399rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg09/18/1307/28/15146Genomicunknown
ss974453894JMKIDD_LAB|KhoeSan_Exomes_chr4_123377482rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg03/06/1403/06/14142Genomicunknown
ss980621878EVA-GONL|EVA-GONL_rs2069763rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg04/23/1404/24/14142Genomicunknown
ss1067464090JMKIDD_LAB|HGDP_exomes_chr4_123377482rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg07/09/1407/09/14142Genomicunknown
ss1071915153JMKIDD_LAB|HGDP_WGS_chr4_123377482rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg07/10/1407/11/14142Genomicunknown
ss13116106571000GENOMES|PHASE3_V1_23197145rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg08/16/1408/16/14142Genomicunknown
ss1580754671EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2069763rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg02/19/1502/20/15144Genomicunknown
ss1584036147EVA_FINRISK|EVA_FINRISK_rs2069763rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg02/27/1502/27/15144Genomicunknown
ss1590129699EVA_DECODE|EVA_DECODE_4_123596932_973935_rs2069763rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg03/02/1503/03/15144Genomicunknown
ss1611069991EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_4_123377482_12839269rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg03/04/1503/04/15144Genomicunknown
ss1654064024EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_4_123377482_12839269rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg03/04/1503/04/15144Genomicunknown
ss1687629107EVA_EXAC|EVA_EXAC_2601472rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg03/04/1503/04/15144Genomicunknown
ss1711070866EVA_MGP|EVA_XIMO_186626rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg03/09/1503/09/15144Genomicunknown
ss1752495785ILLUMINA|OmniExpressExome-8v1-1_B_rs2069763-128_T_R_1908326592rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/27/1506/09/15146Genomicunknown
ss1923864682WEILL_CORNELL_DGM|SNV:chr4:123377482rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg10/16/1510/17/15147Genomicunknown
ss1958717543ILLUMINA|4:123377482-C-A-0_B_R_2304287970rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg11/13/1511/13/15147Genomicunknown
ss1969855539GENOMED|rs2069763rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg02/16/1602/16/16147Genomicunknown
ss2022515736JJLAB|SNP3018291rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg08/29/1608/30/16149Genomicunknown
ss2094936246ILLUMINA|Immuno_BeadChip_11419691_B_imm_4_123596932-1_T_F_1670173728rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg09/27/1609/27/16150Genomicunknown
ss2095149312ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_4_123596932-1_T_F_2310603979rev/TA/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg09/27/1609/27/16150Genomicunknown
ss2150646764USC_VALOUEV|NC_000004.11:g.123377482C>Arev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg11/17/1611/17/16150Genomicunknown
ss2266725885HUMAN_LONGEVITY|HLI-4-122456327-C-Arev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg11/18/1611/18/16150Genomicunknown
ss2434594979TOPMED|4_123377482_C/Arev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg11/20/1611/20/16150Genomicunknown
ss2625754657SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV1918501rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg01/06/1701/06/17151Genomicunknown
ss2634172355ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp11108643-0_B_R_18112673rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg02/02/1702/02/17151Genomicunknown
ss2634172356ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2069763-128_T_R_19083265rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg02/02/1702/02/17151Genomicunknown
ss2635136661ILLUMINA|Cancer_BeadChip_11459870_A_rs2069763-128_T_R_1735647107rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg02/02/1702/02/17151Genomicunknown
ss2706130528GRF|rs2069763rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg02/13/1702/13/17151Genomicunknown
ss2734721383GNOMAD|exomes_rs2069763rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/17/1705/17/17151Genomicunknown
ss2747299360GNOMAD|coding_rs2069763rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/17/1705/17/17151Genomicunknown
ss2814671329GNOMAD|rs2069763rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/18/1705/18/17151Genomicunknown
ss2985302830AFFY|Axiom_PsorMich_Affx-23298282rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/24/1705/24/17151Genomicunknown
ss2985930011AFFY|Axiom_Smokesc1_Affx-23298282rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/24/1705/24/17151Genomicunknown
ss2995471568SWEGEN|NC_000004.11:g.123377482C>Arev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg05/30/1705/30/17151Genomicunknown
ss3022411659ILLUMINA|MEGA_Consortium_v2_15070954_A2_4:123377482-C-A-0_B_R_2304287970rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg06/28/1706/28/17151Genomicunknown
ss3023060847EVA_SAMSUNG_MC|EXOMES.4:g123377482c>arev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg07/03/1707/03/17151Genomicunknown
ss3025034951BIOINF_KMB_FNS_UNIBA|4.122456327C>Arev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg07/05/1707/05/17151Genomicunknown
ss3345937367CSHL|rs2069763rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg10/02/1710/02/17151Genomicunknown
ss3441422822TOPMED|TOPMed_freeze_5?chr4:122,456,327rev/A/Ccattcaaaatcatctgtaaatccagagtaaatgctccagttgtagctgtg10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2069763|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 TATGACAAAG AAAATTTTCT GAGTTACTTT TGTATCCCCA CCCCCTTAAA GAAAGGAGGA
 AAAACTGTTT CATACAGAAG GCGTTAATTG CATGAATTAG AGCTATCACC TAAGTGTGGG
 CTAATGTAAC AAAGAGGGAT TTCACCTACA TCCATTCAGT CAGTCTTTGG GGGTTTAAAG
 AAATTCCAAA GAGTCATCAG AAGAGGAAAA ATGAAGGTAA TGTTTTTTCA GACAGGTAAA
 GTCTTTGAAA ATATGTGTAA TATGTAAAAC ATTTTGACAC CCCCATAATA TTTTTCCAGA
 ATTAACAGTA TAAATTGCAT CTCTTGTTCA AGAGTTCCCT ATCACTCTCT TTAATCACTA
 CTCACAGTAA CCTCAACTCC TGCCACAATG TACAGGATGC AACTCCTGTC TTGCATTGCA
 CTAAGTCTTG CACTTGTCAC AAACAGTGCA CCTACTTCAA GTTCTACAAA GAAAACACAG
 CTACAACTGG AGCATTTACT
 K
 CTGGATTTAC AGATGATTTT GAATGGAATT AATGTAAGTA TATTTCCTTT CTTACTAAAA
 TTATTACATT TAGTAATCTA GCTGGAGATC ATTTCTTAAT AACAATGCAT TATACTTTCT
 TAGAATTACA AGAATCCCAA ACTCACCAGG ATGCTCACAT TTAAGTTTTA CATGCCCAAG
 AAGGTAAGTA CAATATTTTA TGTTCAATTT CTGTTTTAAT AAAATTCAAA GTAATATGAA
 AATTTGCACA GATGGGACTA ATAGCAGCTC ATCTGAGGTA AAGAGTAACT TTAATTTGTT
 TTTTTGAAAA CCCAAGTTTG ATAATGAAGC CTCTATTAAA ACAGTTTTAC CTATATTTTT
 AATATATATT TGTGTGTTGG TGGGGGTGGG AAGAAAACAT AAAAATAATA TTCTCACTTT
 ATCGATAAGA CAATTCTAAA CAAAAATGTT CATTTATGGT TTCATTTAAA AATGTAAAAC
 TCTAAAATAT TTGATTATGT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_016354.18
dbSNP Blast Analysis
UniGene Cluster ID
89679
3D structure mapping
NP_000577  

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs2069763 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG/G
G/T
T/T
HWPG
T
ss120253533ENSEMBL_Venter 2IG1.00000000 1.00000000
ss1311610657EAS 1008AF 0.538699980.46129999
EUR 1006AF 0.655099990.34489998
AFR 1322AF 0.922800060.07720000
AMR 694AF 0.563400030.43660000
SAS 978AF 0.714700040.28530002
ss162505256CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss16383708POPU1 40AF 0.574999990.42500001
ss1687629107ExAc_Aggregated_Populations121330AF 0.655064700.34493530
ss221185205pilot_1_YRI_low_coverage_panel 118AF 0.949152530.05084746
ss232578254pilot_1_CEU_low_coverage_panel 120AF 0.600000020.40000001
ss23953999AFD_EUR_PANELEuropean 48IG0.291666660.541666690.166666670.654721000.562500000.43750000
AFD_AFR_PANELAfrican American 46IG0.565217380.391304340.043478260.751830000.760869560.23913044
AFD_CHN_PANELAsian 48IG0.291666660.458333340.250000000.751830000.520833310.47916666
ss239828659pilot_1_CHB+JPT_low_coverage_panel 120AF 0.408333330.59166664
ss2981873PGA-AFRICAN-PANELAfrican American 48IG0.583333310.375000000.041666671.000000000.770833310.22916667
PGA-EUROPEAN-PANELEuropean 46IG0.304347810.521739130.173913051.000000000.565217380.43478259
ss3253882JBIC-allele 1290AF 0.468900000.53109998
ss342170888ESP_Cohort_Populations 4496GF0.572064040.370106760.057829181.000000000.757117450.24288256
ss48295138P1 204AF0.588000000.324000000.088000000.200325000.750000000.25000000
CAUC1 62AF0.612999980.290000020.097000000.250592000.758000020.24200000
AFR1 48AF0.708000000.250000000.042000000.654721000.833000000.16700000
HISP1 46AF0.477999930.52200007 0.099721000.738999960.26100004
PAC1 48AF0.542000000.250000000.208000000.050043000.667000000.33300000
ss491859571CSAgilent 1258GF0.511488500.389610380.098901090.150222000.706293700.29370630
ss52087608HSP_GENO_PANEL 116IG0.362068950.482758610.155172411.000000000.603448270.39655173
YRI_GENO_PANELSub-Saharan African 120IG0.899999980.10000000 1.000000000.949999990.05000000
AAM_GENO_PANELAfrican American 124IG0.870967750.080645160.048387100.001000000.911290350.08870967
CEU_GENO_PANELEuropean 120IG0.449999990.416666660.133333340.583882000.658333360.34166667
CHB_GENO_PANELAsian 88IG0.090909090.590909060.318181810.150222000.386363630.61363637
JPT_GENO_PANELAsian 72IG0.111111110.555555580.333333340.317310000.388888900.61111110
ss86239208AGI_ASP_populationmultiple 78IG0.589743610.230769230.179487180.010028000.705128190.29487181

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.453+/-0.1460000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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