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Reference SNP (refSNP) Cluster Report: rs1004446                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.3305/1655 (1000 Genomes)
A=0.3719/46694 (TOPMED)
HGVS Names
  • CM000673.2:g.2148913G>A
  • NC_000011.10:g.2148913G>A
  • NC_000011.9:g.2170143G>A
  • NG_008849.1:g.5691C>T
  • NG_050578.1:g.17297C>T
  • NM_001007139.5:c.-249+213C>T
  • NM_001042376.2:c.407+213C>T
  • NR_003512.3:n.466+213C>T
  • NR_028043.2:n.2315G>A
  • NR_028044.1:n.2842+247G>A
  • NR_133657.1:n.2204G>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 ss1465935 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1004446 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
ss1465935TSC-CSHL|TSC0080096byFreqfwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt09/07/0004/07/0486Genomic95 %
ss16316462JDRF_WT_DIL|DIL996fwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt11/25/0301/23/04120Genomicunknown
ss16512180CSHL-HAPMAP|CSHL-HuAA-200402.chr11.NT_009237.16_934083rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca02/17/0403/04/04120Genomicunknown
ss17412883CSHL-HAPMAP|CSHL-HuCC-200402.chr11.NT_009237.16_934083rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca02/19/0403/04/04120Genomicunknown
ss23349634PERLEGEN|afd4278185byFreqrev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca08/10/0409/13/04123Genomicunknown
ss28526847PGA-UW-FHCRC|IGF2AS-009435byFreqrev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca11/05/0401/27/05124Genomicunknown
ss38789897ABI|hCV1223303byFreqrev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca07/16/0511/02/06126Genomicunknown
ss65714041ILLUMINA|Human1-rs1004446fwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt10/10/0610/10/06127Genomicunknown
ss66599583ILLUMINA|HumanHap300v1.1_rs1004446fwd/TC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt11/09/0611/09/06127Genomicunknown
ss66866139ILLUMINA|HumanHap550v1.1_rs1004446fwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt11/14/0611/14/06127Genomicunknown
ss66937926ILLUMINA|HumanHap650Yv1.0_rs1004446fwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt11/14/0611/14/06127Genomicunknown
ss70357072ILLUMINA|HumanHap300v2.0_rs1004446fwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt04/18/0711/17/07127Genomicunknown
ss70461537ILLUMINA|HumanHap550v3.0__rs1004446rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca04/20/0703/29/08130Genomicunknown
ss70982354ILLUMINA|HumanHap650Yv3.0_rs1004446fwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt04/23/0704/23/07127Genomicunknown
ss75477376ILLUMINA|ILMN_Human_1M_rs1004446fwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt08/28/0708/29/07129Genomicunknown
ss83488577HGSV|Cor18555_SNV_20070510.chr11_2126719rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca11/27/0712/05/07130Genomicunknown
ss83652480KRIBB_YJKIM|KHS511088fwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt12/04/0712/05/07130Genomicunknown
ss85603305HGSV|Cor19129_SNV_20070510.chr11_2126719rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca12/06/0712/09/07130Genomicunknown
ss88430068BCMHGSC_JDW|JWB-0363597rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca02/26/0802/27/08129Genomicunknown
ss102931799BGI|BGI_rs1004446rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca06/05/0810/20/09131Genomicunknown
ss1099097591000GENOMES|CEU.trio.12.15.2008_2470386_chr11_2126719rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca12/16/0812/16/08130Genomicunknown
ss1140943471000GENOMES|NA19240_2008_12_16_2228773_chr11_2126719rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca12/18/0812/18/08130Genomicunknown
ss118448283ILLUMINA-UK|NA18507_000002630_NCBI36.1_chr11_2126719rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca01/21/0902/05/09130Genomic99 %
ss120242533ILLUMINA|GS0006563-OPA_rs1004446-119_T_R_1041509rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca03/17/0903/17/09131Genomicunknown
ss121256380ILLUMINA|HumanCNV370v1_C_rs1004446fwd/BC/Ttgcaggaaaggccattgtggagagggttctctttagggctgcacaaagccactgaggctt04/14/0904/14/09131Genomicunknown
ss152550954ILLUMINA|Human610_Quadv1_B_rs1004446-128_T_R_1501590901rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca06/18/0906/19/09131Genomicunknown
ss155819531GMI|GMI_SNP_34003439rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca06/24/0906/24/09131Genomicunknown
ss159105456ILLUMINA|Human660W-Quad_v1_A_rs1004446-128_T_R_1501590901rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca07/06/0907/06/09131Genomicunknown
ss159855674ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1004446-128_T_R_1511956252rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca08/04/0910/01/09131Genomicunknown
ss161409551ENSEMBL|ENSSNP538544byFreqrev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca09/24/0903/07/10131Genomicunknown
ss168860245COMPLETE_GENOMICS|NA19240_36_chr11_2126719rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca10/01/0910/01/09132Genomicunknown
ss169227501ILLUMINA|HumanCNV370-Quadv3_C_rs1004446-128_T_R_1501590901rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca10/01/0910/02/09132Genomicunknown
ss169565179ILLUMINA|Human1M-Duov3_B_rs1004446-128_T_R_1501590901rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca10/01/0910/01/09132Genomicunknown
ss202297687BUSHMAN|BUSHMAN-chr11-2126718rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca02/16/1003/08/10132Genomicunknown
ss207899629BCM-HGSC-SUB|BCM_CMT_1011-2257199rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca03/15/1003/19/10132Genomicunknown
ss2250508371000GENOMES|pilot_1_YRI_6860520_chr11_2126719rev/A/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca04/22/1004/22/10132Genomicunknown
ss2354154801000GENOMES|pilot_1_CEU_5020109_chr11_2126719rev/A/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca05/01/1005/01/10132Genomicunknown
ss2420759491000GENOMES|pilot_1_CHB+JPT_3961026_chr11_2126719rev/A/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca05/01/1005/01/10132Genomicunknown
ss244258666ILLUMINA|Linkage_12_rs1004446rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca06/09/1006/09/10132Genomicunknown
ss244267592ILLUMINA|CVDSNP55v1_A_rs1004446rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca06/10/1006/10/10132Genomicunknown
ss254823221BL|SNP3654_11_2126719rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca08/19/1008/19/10134Genomicunknown
ss280852465GMI|GMI_AK_SNP_5172818rev/A/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca12/16/1012/16/10137Genomicunknown
ss291031360PJP|SNP_537718_chr11_2126719rev/A/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca01/21/1101/21/11134Genomicunknown
ss410884476ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs1004446rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca06/07/1106/07/11135Genomicunknown
ss479167061ILLUMINA|HumanOmni2.5-4v1_B_rs1004446-128_T_R_1617357360rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc01/30/1210/28/16137Genomicunknown
ss479168984ILLUMINA|HumanOmniExpress-12v1_C_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc01/30/1210/27/16137Genomicunknown
ss479489213ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc01/30/1208/28/15146Genomicunknown
ss484384676ILLUMINA|HumanOmni2.5-4v1_D_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc01/30/1210/27/16137Genomicunknown
ss491444451EXOME_CHIP|.GWAS._160677_chr_11_2170143rev/TA/Gaagcctcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttcctgca03/05/1203/05/12137Genomicunknown
ss536569145ILLUMINA|HumanOmni5-4v1_B_rs1004446-131_T_R_1885473003rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc06/22/1208/29/15146Genomicunknown
ss562335998TISHKOFF|snp_chr11_2170143rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc11/22/1211/23/12138Genomicunknown
ss657665873SSMP|11_2170143rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc12/14/1202/12/15138Genomicunknown
ss778345039ILLUMINA|HumanOmni25Exome-8v1_A_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/30/1307/10/15142Genomicunknown
ss780680268ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs1004446-131_T_R_1990486778rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/30/1307/10/15142Genomicunknown
ss782638647ILLUMINA|HumanOmni2.5-4v1_H_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/30/1307/29/15142Genomicunknown
ss783353542ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs1004446-131_T_R_1990486778rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/31/1306/18/15142Genomicunknown
ss783608141ILLUMINA|HumanOmniExpressExome-8v1_A_rs1004446-131_T_R_1885473003rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/31/1306/18/15142Genomicunknown
ss825326803ILLUMINA|HumanCNV370v1_C_rs1004446-126_T_R_IFB1135310860:0rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc06/24/1311/21/14147Genomicunknown
ss831888794ILLUMINA|HumanOmniExpress-12v1_H_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc09/17/1306/18/15144Genomicunknown
ss832618246ILLUMINA|Human660W-Quad_v1_C_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc09/18/1307/02/15142Genomicunknown
ss833208935ILLUMINA|Human660W-Quad_v1_H_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc09/18/1307/02/15142Genomicunknown
ss833799682ILLUMINA|HumanOmni2.5-8v1_A_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc09/18/1307/29/15142Genomicunknown
ss988129636EVA-GONL|EVA-GONL_rs1004446rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc04/23/1404/25/14142Genomicunknown
ss1077445520JMKIDD_LAB|HGDP_WGS_chr11_2170143rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc07/10/1407/12/14142Genomicunknown
ss13398343631000GENOMES|PHASE3_V1_52585111rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc08/16/1408/16/14142Genomicunknown
ss1426509071DDI|DDI_rs1004446rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc11/04/1411/04/14144Genomicunknown
ss1575475232EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1004446rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc02/19/1502/19/15144Genomicunknown
ss1597807990EVA_DECODE|EVA_DECODE_11_2126719_17767_rs1004446rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc03/02/1503/04/15144Genomicunknown
ss1625847327EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_11_2170143_29059683rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc03/04/1503/04/15144Genomicunknown
ss1668841360EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_11_2170143_29059683rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc03/04/1503/04/15144Genomicunknown
ss1713227344EVA_SVP|EVA_SVP_921711rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc03/12/1503/12/15144Genomicunknown
ss1752009710ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs1004446-131_T_R_1990486778rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/27/1506/09/15146Genomicunknown
ss1752009711ILLUMINA|OmniExpressExome-8v1-1_B_rs1004446-131_T_R_1885473003rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/27/1506/09/15146Genomicunknown
ss1806659082HAMMER_LAB|Hsieh_5678183rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc07/15/1507/16/15146Genomicunknown
ss1917854376ILLUMINA|HumanExome-12v1-1_B_exm-rs1004446-131_T_R_1990486778rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc10/16/1510/16/15147Genomicunknown
ss1931491476WEILL_CORNELL_DGM|SNV:chr11:2170143rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc10/16/1510/17/15147Genomicunknown
ss1946299149ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs1004446-131_T_R_1990486778rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc10/29/1510/29/15147Genomicunknown
ss1959316166ILLUMINA|exm-rs1004446-131_T_R_1990486778rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc11/13/1511/13/15147Genomicunknown
ss1967272526GENOMED|rs1004446rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc02/16/1602/16/16147Genomicunknown
ss2026485970JJLAB|SNP6988525rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc08/29/1608/30/16149Genomicunknown
ss2094789641ILLUMINA|Immuno_BeadChip_11419691_B_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc09/27/1609/27/16150Genomicunknown
ss2095019091ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs1004446-131_T_R_1862787366rev/TA/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc09/27/1609/27/16150Genomicunknown
ss2154773217USC_VALOUEV|NC_000011.9:g.2170143G>Arev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc11/17/1611/17/16150Genomicunknown
ss2179649098HUMAN_LONGEVITY|HLI-11-2148913-G-Arev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc11/18/1611/18/16150Genomicunknown
ss2342772093TOPMED|11_2170143_G/Arev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc11/19/1611/19/16150Genomicunknown
ss2632790775ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1004446-131_T_R_2131rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc02/02/1702/02/17151Genomicunknown
ss2632790776ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1004446-131_T_R_18854730rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc02/02/1702/02/17151Genomicunknown
ss2632790777ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs1004446-131_T_R_2130rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc02/02/1702/02/17151Genomicunknown
ss2699038999GRF|rs1004446rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc02/13/1702/13/17151Genomicunknown
ss2895540629GNOMAD|rs1004446rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/22/1705/22/17151Genomicunknown
ss2984930543AFFY|Axiom_PsorMich_Affx-4739950rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/24/1705/24/17151Genomicunknown
ss2985577394AFFY|Axiom_Smokesc1_Affx-4739950rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/24/1705/24/17151Genomicunknown
ss3007474729SWEGEN|NC_000011.9:g.2170143G>Arev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc05/30/1705/30/17151Genomicunknown
ss3027035298BIOINF_KMB_FNS_UNIBA|11.2148913G>Arev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc07/05/1707/05/17151Genomicunknown
ss3135306314TOPMED|TOPMed_freeze_5?chr11:2,148,913rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc09/30/1709/30/17151Genomicunknown
ss3349414025CSHL|rs1004446rev/A/Gtcagtggctttgtgcagccctaaagagaaccctctccacaatggcctttc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1004446|allelePos=118|totalLen=2057|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TGGTTTCTGA AGGAGGGGAA GAACTTCTGC TGCTGGAGGG TGCAGGGAAG CCTCCTGAGA
 GCAGCCTCAA CTTCAGGGGA TGGGGTGTGC AGGAAAGGCC ATTGTGGAGA GGGTTCT
 Y
 CTTTAGGGCT GCACAAAGCC ACTGAGGCTT TTGCAAGGAA AATAGGTTTT CCTTGACTAA
 TTCACCAAGC AAAATGGGAG GGGTAGGGGA GGAGGGCTAG GCCGCTCTTC CCAGCGGGAA
 CACACAGCTG TCTTCACAAG TGTGAAAGGA AGAGTCTTTC TGTGTGAAAA GTTTCCTCCC
 GTTGCATCCC CCATCCCATT CCCAGAGACA AACAGGAGAC TTTGCAGAGG AGCCAGGGGC
 CCGAGATTCT GGCGCAGAGA TTTTATTTAT ACATATATAC ACCATTTTAC AGGTAAAGCT
 TCCTTCCCTC CTGCCTCCCT ATGCCTGCTG ACCACCAGCA AGAAATTGGA CAGGAGACTG
 AGGAGAAACG CCGGGAGAGG CAACAACCGC CCTCCATGTC CCCCCTAGGT TTAGCTTCTC
 TCCTCCTGAT GGCGCACCTG GTCCCCCTTG CTGCTCTCCC AGCCTCCCTG GCACAGAGAG
 GCACCCTGGG GCCAAGGCAG TTTCCCTGGG AATGCTCATT CATGCATGAA GTTTTTCTCT
 GTTGCACCCT GGACCCAGAC TCCTCAATCC ACCCAGGGTG GTGTCTGTGG GGAGGGGGTT
 CACTTCCCCA GGAAGCACAG CCACGCCGTC CCTCACTGGC CTCGTCAAGC AGAGCTGTGT
 GTCCAGTGGC TTTTGCTGGG GCCCCCTCCT TATCTCCTTC CAAGGTGGGG GTGTTTGGAG
 GTGGAGGAGG CTTTCATATT CCGTGCCATG ACCCCTCAAG GCGGGCCATT CGTGTGCACC
 CTCCACCCCC AGTGCCAGGC AGAAGCCCAT CCTCACCCAG GAACAGGGCA GCCTGTCCAA
 CAGAAGGGTC TCGGCCTCTC CATCAGCACC GGGAAGCCCT TTCTAGGCAA ACTTCTCACC
 ACTTCTTCCC TCCCTTATAC TTTGAAAGAG GGAGCTCTAG GCAGGGGAGG GGCTAGAGGG
 GGAAGCCGCT GCCCAGATCC TGACAAGGTG ACCTGAAGGA ACCCGGGGAG GGGGATGGGA
 CAGGGCTCAG GCTTGGGGTG TATGGGGAGG GGGGCTTTGC TTTTAAAAGA GGTCATCTCA
 GCAATATCTT TTTGTTTTTC CCCAGGGGCC GAAGAGTCAC CACCGAGCTT GTGTGGGAGG
 AGGTGGATTC CAGCCCCCAG CCCCAGGGCT CTGAATCGCT GCCAGCTCAG CCCCCTGCCC
 AGCCTGCCCC ACAGCCTGAG CCCCAGCAGG CCAGAGAGCC CAGTCCTGAG GTGAGCTGCT
 GTGGCCTGTG GCCCAGGCGA CCCCAGCGCT CCCAGAACTG AGGCTGGCAG CCAGCCCCAG
 CCTCAGCCCC AACTGCGAGG CAGAGAGGTG AGTGTCTCAG GCACCCTGAG GCCTGGCAGA
 GAGGGCCACA GGCTCTGCGC GGGAGTCTTC GAACTGGGAT CTCCCCCTTC TGCAAGCAGC
 TTTGGCTCAG AGAGGCTGGC GTGGATTCAG TCACACAGCT GGGATCTGGA GTTCCGTGGT
 TGGCTCCAGG TGCTTCCGTC TAGGGGCCAG AGCAGGTGTG GGCAGAGCAG GTTCCCCGCA
 GTCTCCACGG CACCGAGGTC CTGGCAGGGG AGCTCCTggg agacgaaaga gggcaaagaa
 ggggagaggg gcagggagag agcgggcagc caaaggggag aagatggggg gcagaaagtg
 ggtagagagg gaaaaaggga aaATATCATT GGGGAAGAAC CTAAAAACCC AAGGAAAGCT
 GGGCTCTGCT GGGGGCTGTG AGACCCCCGG GTTCTCCCCG CCCCAGGCTG CTGGCCATGG
 GGTCTTGCAC CAATGGCCTG ACCTTTCTGT CGGTCTGTAT TTATCAAAGT GGGTGACAGT
 CTCAGGCCTC CTGGCTGTTC AGAATTGAGG TAATAACCAG AGGCCTTCTG AGCAAAGGGC
 CTAAGGGGCT CCGGCGTCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009237
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1004446 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss118448283YRI 2IG 1.00000000 0.500000000.50000000
ss1339834363EAS 1008AF 0.685500030.31450000
EUR 1006AF 0.645100000.35490000
AFR 1322AF 0.570299980.42970002
AMR 694AF 0.733400050.26660001
SAS 978AF 0.766900000.23310000
ss1465935CEPH 184AF 0.500000000.50000000
HapMap-CEUEuropean 226IG0.380530980.460177000.159292040.751830000.610619490.38938054
HapMap-HCBAsian 86IG0.418604640.465116290.116279071.000000000.651162800.34883720
HapMap-JPTAsian 172IG0.558139560.406976730.034883720.273322000.761627910.23837209
HapMap-YRISub-Saharan African 226IG0.309734520.495575220.194690271.000000000.557522120.44247788
HAPMAP-ASW 98IG0.244897960.551020380.204081640.479500000.520408150.47959185
HAPMAP-CHBAsian 82IG0.512195110.365853670.121951220.402784000.695121940.30487806
HAPMAP-CHD 170IG0.552941200.411764710.035294120.250592000.758823510.24117647
HAPMAP-GIH 176IG0.556818190.375000000.068181821.000000000.744318190.25568181
HAPMAP-LWK 180IG0.477777780.377777790.144444450.200325000.666666690.33333334
HAPMAP-MEX 100IG0.460000010.519999980.020000000.050043000.720000030.28000000
HAPMAP-MKK 286IG0.650349680.272727280.076923080.050043000.786713300.21328671
HAPMAP-TSI 176IG0.431818190.477272720.090909090.479500000.670454560.32954547
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss161409551ENSEMBL_celera 6IG0.33333334 0.66666669 0.333333340.66666669
ss168860245YRISub-Saharan African 2IG 1.00000000 1.00000000
ss202297687BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss225050837pilot_1_YRI_low_coverage_panel 118AF 0.466101710.53389829
ss23349634AFD_EUR_PANELEuropean 40IG0.550000010.349999990.100000000.654721000.725000020.27500001
AFD_AFR_PANELAfrican American 40IG0.349999990.400000010.250000000.402784000.550000010.44999999
AFD_CHN_PANELAsian 40IG0.500000000.400000010.100000001.000000000.699999990.30000001
ss235415480pilot_1_CEU_low_coverage_panel 120AF 0.625000000.37500000
ss242075949pilot_1_CHB+JPT_low_coverage_panel 120AF 0.708333310.29166666
ss28526847PGA-AFRICAN-PANELAfrican American 46IG0.304347810.434782590.260869560.583882000.521739130.47826087
PGA-EUROPEAN-PANELEuropean 44IG0.500000000.363636370.136363640.479500000.681818190.31818181
ss38789897AoD_African_American 90AF 0.579999980.41999999
AoD_Caucasian 92AF 0.649999980.34999999
AoD_Chinese 90AF 0.660000030.34000000
AoD_Japanese 90AF 0.769999920.23000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.443+/-0.1590000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: ILLUMINA
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNYES

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