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Reference SNP (refSNP) Cluster Report: rs2292239                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (REV)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.3003/1504 (1000 Genomes)
T=0.3495/43888 (TOPMED)
HGVS Names
  • CM000674.2:g.56088396T>G
  • NC_000012.11:g.56482180T>G
  • NC_000012.12:g.56088396T>G
  • NG_011529.1:g.13289T>G
  • NM_001982.3:c.875-147T>G
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 ss281408651 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2292239 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
ss3234837YUSUKE|IMS-JST044922byFreqfwd/TA/Ctgccaccctagatcccttaagtgctgcccttagattcaaaagtctcttcactatttgttg09/05/0110/10/03100Genomicunknown
ss14530262WUGSC_SSAHASNP|chr12.NT_029419.10_18625486rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca11/05/0311/22/03119Genomicunknown
ss20920690SSAHASNP|WGSA-200403-chr12.chr12.NT_029419.10_18625486rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca03/19/0403/19/04121Genomicunknown
ss38897791ABI|hCV15967467byFreqrev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca07/16/0511/02/06126Genomicunknown
ss66198698AFFY|SNP_A-2275996byFreqrev/BG/Tgagacttttgaatctaagggcagcacttaagg10/27/0608/14/07127Genomicunknown
ss75142026ILLUMINA|ILMN_Human_1M_rs2292239fwd/TA/Ctgccaccctagatcccttaagtgctgcccttagattcaaaagtctcttcactatttgttg08/28/0708/29/07129Genomicunknown
ss76283688AFFY|AFFY_6_1M_SNP_A-2275996byFreqrev/BG/Tgagacttttgaatctaagggcagcacttaagg08/28/0703/07/10129Genomicunknown
ss81754018KRIBB_YJKIM|KHS135374fwd/TA/Ctgccaccctagatcccttaagtgctgcccttagattcaaaagtctcttcactatttgttg11/30/0712/01/07130Genomicunknown
ss83760618HGSV|Cor18555_SNV_20070510.chr12_54768447rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca11/27/0712/05/07130Genomicunknown
ss97231057HUMANGENOME_JCVI|1103649448840rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca03/28/0803/28/08130Genomicunknown
ss103050312BGI|BGI_rs2292239rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca06/05/0810/21/09131Genomicunknown
ss1119813151000GENOMES|CEU.trio.12.15.2008_2741453_chr12_54768447rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca12/17/0812/17/08130Genomicunknown
ss1135860171000GENOMES|NA19240_2008_12_16_2464843_chr12_54768447rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca12/18/0812/18/08130Genomicunknown
ss118828021ILLUMINA-UK|NA18507_000071854_NCBI36.1_chr12_54768447rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca01/21/0901/21/09130Genomic99 %
ss120253130WTCCC|NT_029419.11_18625486rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca04/10/0904/24/09131Genomicunknown
ss137430918ENSEMBL|ENSSNP760577rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca12/08/0810/15/09131Genomicunknown
ss157507974GMI|GMI_SNP_30620474rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca06/24/0906/25/09131Genomicunknown
ss160530935ILLUMINA|HumanOmni1-Quad_v1-0_B_rs2292239-128_B_R_1514096479rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca08/04/0910/03/09131Genomicunknown
ss168344931COMPLETE_GENOMICS|NA07022_36_chr12_54768447rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca09/30/0910/01/09132Genomicunknown
ss169932109COMPLETE_GENOMICS|NA19240_36_chr12_54768447rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca10/01/0910/01/09132Genomicunknown
ss173118982AFFY|GenomeWideSNP_5_SNP_A-2275996rev/BG/Tgagacttttgaatctaagggcagcacttaagg10/01/0910/03/09132Genomicunknown
ss173261643ILLUMINA|Human1M-Duov3_B_rs2292239-128_B_R_1514096479rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca10/01/0910/03/09132Genomicunknown
ss175137404COMPLETE_GENOMICS|NA20431_36_chr12_54768447rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca10/01/0910/05/09132Genomicunknown
ss198225103BUSHMAN|BUSHMAN-chr12-54768446byFreqrev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca02/16/1009/05/14132Genomicunknown
ss208027788BCM-HGSC-SUB|BCM_CMT_1011-2299799rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca03/15/1003/19/10132Genomicunknown
ss2257685861000GENOMES|pilot_1_YRI_7578269_chr12_54768447rev/G/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca04/22/1004/22/10132Genomicunknown
ss2359460491000GENOMES|pilot_1_CEU_5550678_chr12_54768447rev/G/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca05/01/1005/01/10132Genomicunknown
ss2425035261000GENOMES|pilot_1_CHB+JPT_4388603_chr12_54768447rev/G/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca05/01/1005/01/10132Genomicunknown
ss244289525ILLUMINA|CVDSNP55v1_A_rs2292239rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca06/10/1006/10/10132Genomicunknown
ss255141595BL|SNP67600_12_54768447rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca08/19/1008/20/10134Genomicunknown
ss281408651GMI|GMI_AK_SNP_5729040rev/G/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca12/16/1012/16/10137Genomicunknown
ss286566457GMI|GMI_NA10851_SNP_2579248rev/G/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca12/17/1012/17/10138Genomicunknown
ss291256977PJP|SNP_763335_chr12_54768447rev/G/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca01/21/1101/21/11134Genomicunknown
ss410921737ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs2292239rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca06/07/1106/07/11135Genomicunknown
ss480514386ILLUMINA|HumanOmni2.5-4v1_B_rs2292239-128_B_R_1616887298rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg01/30/1210/28/16137Genomicunknown
ss480528635ILLUMINA|HumanOmniExpress-12v1_C_rs2292239-131_B_R_1853429438rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg01/30/1210/27/16137Genomicunknown
ss481338135ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2292239-131_B_R_1865534601rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg01/30/1208/28/15146Genomicunknown
ss485054579ILLUMINA|HumanOmni2.5-4v1_D_rs2292239-131_B_R_1853429438rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg01/30/1210/27/16137Genomicunknown
ss491469456EXOME_CHIP|.GWAS._185682_chr_12_56482180rev/BG/Tcaacaaatagtgaagagacttttgaatctaagggcagcacttaagggatctagggtggca03/05/1203/05/12137Genomicunknown
ss537071907ILLUMINA|HumanOmni5-4v1_B_rs2292239-131_B_R_1908343872rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg06/22/1208/29/15146Genomicunknown
ss563184254TISHKOFF|snp_chr12_56482180rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg11/22/1211/23/12138Genomicunknown
ss658743174SSMP|12_56482180rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg12/14/1202/13/15138Genomicunknown
ss778490635ILLUMINA|HumanOmni25Exome-8v1_A_rs2292239-131_B_R_1865534601rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/30/1307/10/15146Genomicunknown
ss780683286ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs2292239-131_B_R_1990481169rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/30/1307/10/15142Genomicunknown
ss782973503ILLUMINA|HumanOmni2.5-4v1_H_rs2292239-131_B_R_1853429438rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/30/1307/29/15146Genomicunknown
ss783356676ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs2292239-131_B_R_1990481169rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/31/1306/18/15142Genomicunknown
ss783934865ILLUMINA|HumanOmniExpressExome-8v1_A_rs2292239-131_B_R_1908343872rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/31/1306/18/15146Genomicunknown
ss832229870ILLUMINA|HumanOmniExpress-12v1_H_rs2292239-131_B_R_1853429438rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg09/17/1306/18/15146Genomicunknown
ss833946634ILLUMINA|HumanOmni2.5-8v1_A_rs2292239-131_B_R_1865534601rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg09/18/1307/29/15146Genomicunknown
ss989564559EVA-GONL|EVA-GONL_rs2292239rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg04/23/1404/25/14142Genomicunknown
ss1078483165JMKIDD_LAB|HGDP_WGS_chr12_56482180rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg07/10/1407/12/14142Genomicunknown
ss13451416531000GENOMES|PHASE3_V1_58109887rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg08/16/1408/16/14142Genomicunknown
ss1397634518HAMMER_LAB|HAMMER_LAB_rs2292239rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg09/30/1407/15/15146Genomicunknown
ss1426942713DDI|DDI_rs2292239rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg11/04/1411/04/14144Genomicunknown
ss1576301549EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2292239rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg02/19/1502/19/15144Genomicunknown
ss1599237863EVA_DECODE|EVA_DECODE_12_54768447_417289_rs2292239rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg03/02/1503/04/15144Genomicunknown
ss1628653697EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_56482180_32144422rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg03/04/1503/04/15144Genomicunknown
ss1671647730EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_56482180_32144422rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg03/04/1503/04/15144Genomicunknown
ss1711332832EVA_MGP|EVA_XIMO_448592rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg03/09/1503/09/15144Genomicunknown
ss1713330072EVA_SVP|EVA_SVP_1024439rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg03/12/1503/12/15144Genomicunknown
ss1752073783ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs2292239-131_B_R_1990481169rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/27/1506/09/15146Genomicunknown
ss1752073784ILLUMINA|OmniExpressExome-8v1-1_B_rs2292239-131_B_R_1908343872rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/27/1506/09/15146Genomicunknown
ss1807259472HAMMER_LAB|Hsieh_6280829rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg07/15/1507/16/15146Genomicunknown
ss1917875015ILLUMINA|HumanExome-12v1-1_B_exm-rs2292239-131_B_R_1990481169rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg10/16/1510/16/15147Genomicunknown
ss1932930455WEILL_CORNELL_DGM|SNV:chr12:56482180rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg10/16/1510/17/15147Genomicunknown
ss1946340472ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs2292239-131_B_R_1990481169rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg10/29/1510/29/15147Genomicunknown
ss1959438379ILLUMINA|exm-rs2292239-131_B_R_1990481169rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg11/13/1511/13/15147Genomicunknown
ss1967596567GENOMED|rs2292239rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg02/16/1602/16/16147Genomicunknown
ss2027215309JJLAB|SNP7717864rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg08/29/1608/30/16149Genomicunknown
ss2094874062ILLUMINA|Immuno_BeadChip_11419691_B_imm_12_54768447-1_B_F_1670070852rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg09/27/1609/27/16150Genomicunknown
ss2095035272ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_12_54768447-1_B_F_2310579332rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg09/27/1609/27/16150Genomicunknown
ss2095035273ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs2292239-138_B_R_2264340826rev/BG/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg09/27/1609/27/16150Genomicunknown
ss2155555861USC_VALOUEV|NC_000012.11:g.56482180T>Grev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg11/17/1611/17/16150Genomicunknown
ss2190042054HUMAN_LONGEVITY|HLI-12-56088396-T-Grev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg11/18/1611/18/16150Genomicunknown
ss2353987811TOPMED|12_56482180_T/Grev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg11/19/1611/19/16150Genomicunknown
ss2628088863SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4909709rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg01/06/1701/06/17151Genomicunknown
ss2632963287ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs2292239-131_B_R_2131rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg02/02/1702/02/17151Genomicunknown
ss2632963288ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2292239-131_B_R_19083438rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg02/02/1702/02/17151Genomicunknown
ss2699900601GRF|rs2292239rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg02/13/1702/13/17151Genomicunknown
ss2910867604GNOMAD|rs2292239rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/22/1705/22/17151Genomicunknown
ss2984978020AFFY|Axiom_PsorMich_Affx-8213296rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/24/1705/24/17151Genomicunknown
ss2985617870AFFY|Axiom_Smokesc1_Affx-8213296rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/24/1705/24/17151Genomicunknown
ss3009741865SWEGEN|NC_000012.11:g.56482180T>Grev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg05/30/1705/30/17151Genomicunknown
ss3021434847ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs2292239-131_B_R_1990481169rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg06/28/1706/28/17151Genomicunknown
ss3027416598BIOINF_KMB_FNS_UNIBA|12.56088396T>Grev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg07/05/1707/05/17151Genomicunknown
ss3171731230TOPMED|TOPMed_freeze_5?chr12:56,088,396rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg09/30/1709/30/17151Genomicunknown
ss3350078873CSHL|rs2292239rev/G/Taatagtgaagagacttttgaatctaagggcagcacttaagggatctaggg10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2292239|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 TCTAAGGAGG GAAGGCAGGA TCTCTAACCC ATTGAGGCCG GTGATCAGAA AGTCCAGGTT
 GCCCAGGATC TTGGTGCAGT TCACAAATCC ATCAATGTTG CTCGAGTCCA CAGTCTGGAA
 GCGGCTCCCA GAGCCTGTTC CCTCACAGGC TGCAAATGTA AGAGAGGTTC AGTGGGGGTG
 GTCTGCGCAG GCTCAGAGGA AAGGCTGTCT CTTTACAACT TCTTACCATC TCCTACCCAC
 CTTTGGGACA TAGTCCCCCA CAAGGCTCAC ACATCTTGAG CCCATTTTTA TCTACTTCCA
 TCTTGTCAGG AGGACAGGCC CTGACACAGG ATGTTTGATC CACCACAAAG TTATCTAGGG
 AAGAGGAGGA GGACACCATT AGAGATGAGG GAGGAACATC ACCAGCTACC AATGGAACCC
 TTGCTCTGGG CCTAGGCTCC CTCCAGCTCT GCACTGGATT TGTCCCCATC TGCCACCCTA
 GATCCCTTAA GTGCTGCCCT
 M
 TAGATTCAAA AGTCTCTTCA CTATTTGTTG CTACAAGGAG CAGAAGTAAG GGTGATAGCT
 GAAGTCATGG GAGGACTGGA CGTAAGGGTC ACTCACTGGA GTGGTTAGAT GATCATAACC
 ATTCACCAAT CTCCCTATTT ATCACCAACT GGATTCTTTT TCCCTTCCAC AATTTTGTCT
 AAAATCTTGG ATCTACTATT GTTGATCATT GTTCCTTCCC CTCAGACACT TACGGGGACA
 GCTGGCTACA CAAACTCCTC CATACTGATA CTTGGTGTGG GGATTGGGTT CCAGCTGGAA
 AGTTAGCTTG TTGTAGACAA GAGGCTGTGG ACAGCGAGGT ACACAGGCTC CACTGTCATT
 GAAGTGCCGG CAGGCCTGGG AAAAAAGGAG GCTCATCAGA TTTATGTTAC GTGTGTACCC
 CTACCTCCTC CTCAAAGGCC ACATCCCAAT TTCAGAACCC AGGCAATGGA AAGGGTACAT
 ACAAAGCAGT CTGTGTCCTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_029419.11 ABBA01008405
dbSNP Blast Analysis
OMIM
190151
222100

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs2292239 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/C
C/C
HWPA
C
ss118828021YRI 2IG 1.00000000 0.500000000.50000000
ss120253130ENSEMBL_Watson 2IG1.00000000 1.00000000
ss1345141653EAS 1008AF 0.220199990.77980000
EUR 1006AF 0.332999970.66700000
AFR 1322AF 0.427400020.57260001
AMR 694AF 0.243499990.75650001
SAS 978AF 0.217800010.78219998
ss137430918ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss168344931CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss169932109YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss175137404PGP 2IG 1.00000000 1.00000000
ss198225103BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
BANTU 2IG 1.00000000 0.500000000.50000000
ss225768586pilot_1_YRI_low_coverage_panel 118AF 0.432203380.56779659
ss235946049pilot_1_CEU_low_coverage_panel 120AF 0.308333340.69166666
ss242503526pilot_1_CHB+JPT_low_coverage_panel 120AF 0.266666680.73333335
ss3234837JBIC-allele 1498AF 0.209700000.79030001
ss38897791HapMap-CEUEuropean 224IG0.125000000.410714300.464285700.479500000.330357130.66964287
HapMap-HCBAsian 86IG0.069767450.372093020.558139561.000000000.255813960.74418604
HapMap-JPTAsian 172IG0.023255810.430232550.546511650.099721000.238372090.76162791
HapMap-YRISub-Saharan African 226IG0.194690270.495575220.309734521.000000000.442477880.55752212
AoD_African_American 90AF 0.349999990.64999998
AoD_Caucasian 92AF 0.319999990.68000001
AoD_Chinese 90AF 0.140000000.86000001
AoD_Japanese 90AF 0.250000000.75000000
HAPMAP-ASW 98IG0.163265300.387755100.448979590.294266000.357142870.64285713
HAPMAP-CHBAsian 82IG0.073170730.414634140.512195111.000000000.280487810.71951222
HAPMAP-CHD 170IG0.070588240.305882360.623529430.273322000.223529410.77647060
HAPMAP-GIH 176IG0.056818180.272727280.670454560.250592000.193181810.80681819
HAPMAP-LWK 180IG0.255555570.522222220.222222220.751830000.516666650.48333332
HAPMAP-MEX 100IG0.060000000.280000000.660000030.402784000.200000000.80000001
HAPMAP-MKK 286IG0.132867130.447552440.419580431.000000000.356643350.64335662
HAPMAP-TSI 176IG0.079545450.431818190.488636370.751830000.295454530.70454544
ss66198698HapMap-CEUEuropean 118IG0.118644070.372881350.508474590.371093000.305084740.69491524
HapMap-HCBAsian 90IG0.066666670.377777790.555555581.000000000.255555570.74444443
HapMap-JPTAsian 90IG0.044444450.422222230.533333360.479500000.255555570.74444443
HapMap-YRISub-Saharan African 120IG0.200000000.433333340.366666670.402784000.416666660.58333331
ss76283688ICMHP 8IG0.250000000.250000000.50000000 0.375000000.62500000
ss97231057J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.420+/-0.1830000

  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
UNKNOWNUNKNOWNUNKNOWN

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