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Reference SNP (refSNP) Cluster Report: rs1800469                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:A=0.3680/1843 (1000 Genomes)
A=0.3146/39499 (TOPMED)
HGVS Names
  • CM000681.2:g.41354391A>G
  • NC_000019.10:g.41354391A>G
  • NC_000019.9:g.41860296A>G
  • NG_013091.1:g.14783T>C
  • NG_013364.1:g.4536T>C
  • NM_000660.6:c.-1347T>C
  • NM_030578.3:c.*309T>C
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 ss28476928 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1800469 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
ss2420563HGBASE|SNP000003236fwd/BC/Ttgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctc11/07/0010/10/0389Genomicunknown
ss2739879TSC-CSHL|TSC0859297byFreqfwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact01/02/0104/07/0492Genomicunknown
ss5586936SNP500CANCER|MGC4093-03byFreqfwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact09/26/0204/12/05116Genomicunknown
ss12568613CUORCGL|SNP27byFreqfwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact07/08/0310/25/06117Genomicunknown
ss15356531IIPGA-WEISS-MARTINEZ|IIPGA-TGFB1_1996byFreqfwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact11/14/0304/07/04120Genomicunknown
ss17621399CSHL-HAPMAP|CSHL-HuCC-200402.chr19.NT_011109.15_14128514byFreqrev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt02/19/0405/16/04120Genomicunknown
ss21530012SSAHASNP|WGSA-200403-chr19.chr19.NT_011109.15_14128514rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt03/20/0403/20/04121Genomicunknown
ss24105096PERLEGEN|afd3977863byFreqrev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt08/10/0409/13/04123Genomicunknown
ss28476928KYUGEN|QH03960byFreqfwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact07/07/0408/05/04126Genomicunknown
ss44192442ABI|hCV8708473byFreqrev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt07/18/0511/03/06126Genomicunknown
ss51854669STEJUSTINE-REGGEN|1140_-508rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt02/16/0602/16/06126Genomicunknown
ss65790081ILLUMINA|Human1-rs1800469fwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact10/10/0610/10/06127Genomicunknown
ss69364811PHARMGKB_PHAT|PS205155_PA137100482_101byFreqrev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt03/22/0708/14/07127Genomicunknown
ss74901876ILLUMINA|ILMN_Human_1M_rs1800469fwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact08/28/0708/29/07129Genomicunknown
ss76869527CGM_KYOTO|11992rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt09/12/0709/12/07129cDNAunknown
ss77570022HGSV|Cor12156_SNV_20070510.chr19_46552136rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt10/09/0710/13/07129Genomicunknown
ss78421946HGSV|Cor12878_SNV_20070510.chr19_46552136rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt10/17/0710/19/07129Genomicunknown
ss80744950KRIBB_YJKIM|KHS1004690byFreqfwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact11/26/0709/05/14130Genomicunknown
ss90976639BCMHGSC_JDW|JWB-1170446rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt02/26/0803/01/08129Genomicunknown
ss96268014HUMANGENOME_JCVI|1103691147419rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt03/25/0803/26/08130Genomicunknown
ss105107320PHARMGKB_PHAT|PS205143_PA136361077_101byFreqrev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt07/23/0809/05/14130Genomicunknown
ss106055548BGI|BGI_rs1800469rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt09/13/0806/17/09130Genomicunknown
ss1113914071000GENOMES|CEU.trio.12.15.2008_3619809_chr19_46552136rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt12/17/0812/17/08130Genomicunknown
ss1151496981000GENOMES|NA19240_2008_12_16_3261274_chr19_46552136rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt12/19/0812/19/08130Genomicunknown
ss117709351ILLUMINA-UK|NA18507_000047217_NCBI36.1_chr19_46552136rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt01/19/0901/20/09130Genomic99 %
ss119403931KRIBB_YJKIM|KHS1566178fwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact02/04/0902/04/09131Genomicunknown
ss136262334ENSEMBL|ENSSNP1531701rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt12/08/0810/15/09131Genomicunknown
ss137680624ENSEMBL|ENSSNP11447795rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt05/15/0905/16/09131Genomicunknown
ss155910861GMI|GMI_SNP_240888117rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt06/24/0906/24/09131Genomicunknown
ss160462839ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1800469-128_B_F_1513930080fwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact08/04/0910/02/09131Genomicunknown
ss168214585COMPLETE_GENOMICS|NA07022_36_chr19_46552136rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt09/30/0909/30/09132Genomicunknown
ss172924758ILLUMINA|Human1M-Duov3_B_rs1800469-128_B_F_1513930080fwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact10/01/0910/02/09132Genomicunknown
ss203757626BUSHMAN|BUSHMAN-chr19-46552135rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt02/16/1003/09/10132Genomicunknown
ss208468248BCM-HGSC-SUB|BCM_CMT_1011-3113622rev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt03/15/1003/19/10132Genomicunknown
ss2281450881000GENOMES|pilot_1_YRI_9954771_chr19_46552136rev/A/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt04/22/1004/22/10132Genomicunknown
ss2376813911000GENOMES|pilot_1_CEU_7286020_chr19_46552136rev/A/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt05/01/1005/01/10132Genomicunknown
ss2438865111000GENOMES|pilot_1_CHB+JPT_5771588_chr19_46552136rev/A/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt05/01/1005/01/10132Genomicunknown
ss244285019ILLUMINA|CVDSNP55v1_A_rs1800469fwd/BC/Tacaggtgtctgcctcctgacccttccatcctcaggtgtcctgttgccccctcctcccact06/10/1006/10/10132Genomicunknown
ss283213944GMI|GMI_AK_SNP_7534365rev/A/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt12/16/1012/16/10137Genomicunknown
ss287384572GMI|GMI_NA10851_SNP_3397363rev/A/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt12/17/1012/17/10138Genomicunknown
ss292179508PJP|SNP_1685866_chr19_46552136rev/A/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt01/21/1101/21/11134Genomicunknown
ss480300466ILLUMINA|HumanOmni2.5-4v1_B_rs1800469-128_B_F_1779402153rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca01/30/1210/28/16137Genomicunknown
ss480311569ILLUMINA|HumanOmniExpress-12v1_C_rs1800469-131_B_F_1862787484rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca01/30/1210/27/16137Genomicunknown
ss481067146ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1800469-131_B_F_1862787484rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca01/30/1208/28/15146Genomicunknown
ss484948046ILLUMINA|HumanOmni2.5-4v1_D_rs1800469-131_B_F_1862787484rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca01/30/1210/28/16137Genomicunknown
ss536992304ILLUMINA|HumanOmni5-4v1_B_rs1800469-131_B_F_1886098502rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca06/22/1208/29/15146Genomicunknown
ss565990468TISHKOFF|snp_chr19_41860296rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca11/22/1211/23/12138Genomicunknown
ss647514674GENEREVIEWS|NT_011109.15:g.14128514A>Grev/TA/Gagtgggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagacacctgt12/12/1212/12/12137Genomicunknown
ss661855452SSMP|19_41860296rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca12/14/1202/14/15138Genomicunknown
ss778467772ILLUMINA|HumanOmni25Exome-8v1_A_rs1800469-131_B_F_1862787484rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca05/30/1307/10/15146Genomicunknown
ss782920331ILLUMINA|HumanOmni2.5-4v1_H_rs1800469-131_B_F_1862787484rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca05/30/1307/29/15146Genomicunknown
ss783883364ILLUMINA|HumanOmniExpressExome-8v1_A_rs1800469-131_B_F_1886098502rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca05/31/1306/19/15146Genomicunknown
ss832175455ILLUMINA|HumanOmniExpress-12v1_H_rs1800469-131_B_F_1862787484rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca09/17/1306/18/15146Genomicunknown
ss833923531ILLUMINA|HumanOmni2.5-8v1_A_rs1800469-131_B_F_1862787484rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca09/18/1307/29/15146Genomicunknown
ss994311933EVA-GONL|EVA-GONL_rs1800469rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca04/23/1405/01/14142Genomicunknown
ss1081912106JMKIDD_LAB|HGDP_WGS_chr19_41860296rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca07/10/1407/12/14142Genomicunknown
ss13632131561000GENOMES|PHASE3_V1_76938645rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca08/16/1408/16/14142Genomicunknown
ss1428406248DDI|DDI_rs1800469rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca11/04/1411/04/14144Genomicunknown
ss1578644486EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1800469rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca02/19/1502/20/15144Genomicunknown
ss1637992074EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_19_41860296_42436758rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca03/04/1503/04/15144Genomicunknown
ss1680986107EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_19_41860296_42436758rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca03/04/1503/04/15144Genomicunknown
ss1698365651EVA_DECODE|EVA_DECODE_19_46552136_306456_rs1800469rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca03/02/1503/05/15144Genomicunknown
ss1713663467EVA_SVP|EVA_SVP_1357546rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca03/12/1503/12/15144Genomicunknown
ss1752286046ILLUMINA|OmniExpressExome-8v1-1_B_rs1800469-131_B_F_1886098502rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca05/27/1506/09/15146Genomicunknown
ss1809313128HAMMER_LAB|Hsieh_8343027rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca07/15/1507/16/15146Genomicunknown
ss1937805611WEILL_CORNELL_DGM|SNV:chr19:41860296rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca10/16/1510/19/15147Genomicunknown
ss1946536170ILLUMINA|HumanCoreExome-12v1-0_C_rs1800469-131_B_F_1886098502rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca10/29/1510/29/15147Genomicunknown
ss1959865660ILLUMINA|rs1800469-131_B_F_1886098502rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca11/13/1511/13/15147Genomicunknown
ss1968645735GENOMED|rs1800469rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca02/16/1602/16/16147Genomicunknown
ss1971464791AMU|chr19:41860296rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca03/02/1603/02/16147Genomicunknown
ss2029682227JJLAB|SNP10184782rev/TA/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca08/29/1608/31/16149Genomicunknown
ss2158223511USC_VALOUEV|NC_000019.9:g.41860296A>Grev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca11/17/1611/17/16150Genomicunknown
ss2225848564HUMAN_LONGEVITY|HLI-19-41354391-A-Grev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca11/18/1611/18/16150Genomicunknown
ss2391582636TOPMED|19_41860296_A/Grev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca11/19/1611/19/16150Genomicunknown
ss2629338317SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6499888rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca01/06/1701/06/17151Genomicunknown
ss2633541442ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1800469-131_B_F_18860985rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca02/02/1702/02/17151Genomicunknown
ss2635083672ILLUMINA|Cancer_BeadChip_11459870_A_rs1800469-128_B_F_1779402153rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca02/02/1702/02/17151Genomicunknown
ss2702834578GRF|rs1800469rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca02/13/1702/13/17151Genomicunknown
ss2710883182ILLUMINA|Consortium-OncoArray_15047405_A_rs1800469-131_B_F_1886098502rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca03/22/1703/22/17151Genomicunknown
ss2963007559GNOMAD|rs1800469rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca05/23/1705/23/17151Genomicunknown
ss3017493601SWEGEN|NC_000019.9:g.41860296A>Grev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca05/30/1705/30/17151Genomicunknown
ss3021907426ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs1800469-138_B_F_2264019780rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca06/28/1706/28/17151Genomicunknown
ss3028672640BIOINF_KMB_FNS_UNIBA|19.41354391A>Grev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca07/05/1707/05/17151Genomicunknown
ss3293607702TOPMED|TOPMed_freeze_5?chr19:41,354,391rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca10/02/1710/02/17151Genomicunknown
ss3352308685CSHL|rs1800469rev/A/Ggaggagggggcaacaggacacctgaggatggaagggtcaggaggcagaca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1800469|allelePos=277|totalLen=1039|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 ACCCCGGACA CCCAGTGATG GGGGAGGATG GCACAGTGGT CAAGAGCACA GACTCTAGAG
 ACTGTCAGAG CTGACCCCAG CTAAGGCATG GCACCGCTTC TGTCCTTTCT AGGACCTCGG
 GGTCCCTCTG GGCCCAGTTT CCCTATCTGT AAATTGGGGA CAGTAAATGT ATGGGGTCGC
 AGGGTGTTGA GTGACAGGAG GCTGCTTAGC CACATGGGAG GTGCTCAGTA AAGGAGAGCA
 ATTCTTACAG GTGTCTGCCT CCTGACCCTT CCATCC
 Y
 TCAGGTGTCC TGTTGCCCCC TCCTCCCACT GACACCCTCC GGAGGCCCCC ATGTTGACAG
 ACCCTCTTCT CCTACCTTGT TTCCCAGCCT GACTCTCCTT CCGTTCTGGG TCCCCCTCCT
 CTGGTCGGCT CCCCTGTGTC TCATCCCCCG GATTAAGCCT TCTCCGCCTG GTCCTCTTTC
 TCTGGTGACC CACACCGCCC GCAAAGCCAC AGCGCATCTG GATCACCCGC TTTGGTGGCG
 CTTGGCCGCC MGGAGGCAGC ACCCTGTTTG CGGGGCGGAG CCGGGGTGCC CGCCCCCTTT
 CCCCCAGGGC TGAAGGGACC CCCCTCGGAG CCCGCCCACG CGAGATGAGG ACGGTGGCCC
 AGCCCCCCCA TGCCCTCCCC CTGGGGGCCG CCCCCGCTCC CGCCCCGTGC GCTTCCTGGG
 TGGGGCCGGG GGCGGCTTCA AAACCCCCTG CCGACCCAGC CGGTCCCCGC CGCCGCCGCC
 CTTCGCGCCC TGGGCCATCT CCCTCCCACC TCCCTCCGCG GAGCAGCCAG ACAGCGAGGG
 CCCCGGCCGG GGGCAGGGGG GACGCCCCGT CCGGGGCACC CCCCCGGCTC TGAGCCGCCC
 GCGGGGCCGG CCTCGGCCCG GAGCGGAGGA AGGAGTCGCC GAGGAGCAGC CTGAGGCCCC
 AGAGTCTGAG ACGAGCCGCC GCCGCCCCCG CCACTGCGGG GAGGAGGGGG AGGAGGAGCG
 GGAGGAGGGA CGAGCTGGTC GGGAGAAGAG GAAAAAAACT TT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X05839 ABBA01040805
dbSNP Blast Analysis
OMIM
219700
190180

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1800469 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC
C/C
C/T
N
T
T/T
HWPC
N
T
ss105107320PA136361078 788AF 0.68654823 0.31345177
ss117709351YRI 2IG 1.00000000 0.50000000 0.50000000
ss12568613American Caucasians 1840AF 0.68900001 0.31099999
ss136262334ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 2IG 1.00000000 1.00000000
ss1363213156EAS 1008AF 0.45339999 0.54659998
EUR 1006AF 0.68790001 0.31209999
AFR 1322AF 0.78209996 0.21790001
AMR 694AF 0.53749996 0.46250001
SAS 978AF 0.62270004 0.37729999
ss137680624ENSEMBL_Watson 2IG 1.00000000 0.50000000 0.50000000
ss15356531D-0African American 48IG 0.541666690.29166666 0.166666670.150222000.68750000 0.31250000
E-0European 40IG 0.500000000.40000001 0.100000001.000000000.69999999 0.30000001
E-1European 6IG 0.333333340.66666669 0.66666669 0.33333334
ss168214585CEUEuropean 2IG 1.00000000 1.00000000
ss17621399CEPH 184AF 0.69999999 0.30000001
CHMJAsian 74IG0.24324325 0.189189200.56756759 0.243243250.189189200.56756759
ss203757626BANTU 2IG 1.00000000 0.50000000 0.50000000
ss228145088pilot_1_YRI_low_coverage_panel 118AF 0.77966100 0.22033899
ss237681391pilot_1_CEU_low_coverage_panel 120AF 0.64166665 0.35833332
ss24105096AFD_EUR_PANELEuropean 42IG 0.571428600.33333334 0.095238100.583882000.73809522 0.26190478
AFD_AFR_PANELAfrican American 42IG 0.571428600.33333334 0.095238100.583882000.73809522 0.26190478
AFD_CHN_PANELAsian 40IG 0.200000000.50000000 0.300000011.000000000.44999999 0.55000001
ss243886511pilot_1_CHB+JPT_low_coverage_panel 120AF 0.54166669 0.45833334
ss2739879TSC_42_AA 84AF 0.73000002 0.27000001
TSC_42_C 80AF 0.74000001 0.25999999
TSC_42_A 72AF 0.52999997 0.47000000
ss28476928CP 156AF 0.64999998 0.34999999
JPK2 200AF 0.50000000 0.50000000
HapMap-CEUEuropean 226IG 0.530973430.36283186 0.106194690.250592000.71238941 0.28761062
HapMap-HCBAsian 86IG 0.348837200.41860464 0.232558150.342782000.55813956 0.44186047
HapMap-JPTAsian 172IG 0.267441870.53488374 0.197674420.527089000.53488374 0.46511629
HapMap-YRISub-Saharan African 226IG 0.637168170.30973452 0.053097340.527089000.79203540 0.20796460
7 65AF 0.78230000 0.21770000
HAPMAP-ASW 98IG 0.612244900.32653061 0.061224490.751830000.77551019 0.22448979
HAPMAP-CHBAsian 82IG 0.243902440.51219511 0.243902441.000000000.50000000 0.50000000
HAPMAP-CHD 170IG 0.200000000.43529412 0.364705890.342782000.41764706 0.58235294
HAPMAP-GIH 176IG 0.397727280.45454547 0.147727271.000000000.62500000 0.37500000
HAPMAP-LWK 180IG 0.622222240.31111112 0.066666670.342782000.77777779 0.22222222
HAPMAP-MEX 100IG 0.380000000.50000000 0.120000000.654721000.63000000 0.37000000
HAPMAP-MKK 286IG 0.657342670.30069929 0.041958040.751830000.80769229 0.19230770
HAPMAP-TSI 176IG 0.363636370.45454547 0.181818190.583882000.59090906 0.40909091
ss44192442AoD_African_American 90AF 0.64999998 0.34999999
AoD_Caucasian 92AF 0.72000003 0.27999997
AoD_Chinese 90AF 0.33000001 0.67000002
AoD_Japanese 90AF 0.55000001 0.44999999
ss5586936P1 202AF 0.356000010.51499999 0.128999990.402784000.61400002 0.38600001
CAUC1 60AF 0.233000000.66700000 0.100000000.050043000.56699997 0.43300003
AFR1 48AF 0.708000000.29200000 0.402784000.85399997 0.14600001
HISP1 46AF 0.303999990.56500000 0.131000000.438578000.58700001 0.41299999
PAC1 48AF 0.208000000.50000000 0.292000001.000000000.45800003 0.54200000
ss69364811PA137100483 3556AF 0.69206977 0.30793026
ss80744950KHP1 178AF 0.258426960.49438202 0.247191011.000000000.50561798 0.49438202
KHP_Korean 178IG 0.258426960.49438202 0.247191011.000000000.50561798 0.49438202
ss96268014J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.465+/-0.1270000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNYESYES

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