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Reference SNP (refSNP) Cluster Report: rs1057090                 ** With Benign allele **
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
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (FWD)
Allele Origin:A:germline
C:germline
G:germline
T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:T=0.4362/52620 (ExAC)
T=0.4820/2414 (1000 Genomes)
T=0.4098/5204 (GO-ESP)
T=0.4406/55320 (TOPMED)
HGVS Names
  • CM000670.2:g.6621521C>A
  • CM000670.2:g.6621521C>G
  • CM000670.2:g.6621521C>T
  • NC_000008.10:g.6479042C>A
  • NC_000008.10:g.6479042C>G
  • NC_000008.10:g.6479042C>T
  • NC_000008.11:g.6621521C>A
  • NC_000008.11:g.6621521C>G
  • NC_000008.11:g.6621521C>T
  • NG_016619.2:g.219930C>A
  • NG_016619.2:g.219930C>G
  • NG_016619.2:g.219930C>T
  • NM_001322042.1:c.2282C>A
  • NM_001322042.1:c.2282C>G
  • NM_001322042.1:c.2282C>T
  • NM_024596.4:c.2282C>A
  • NM_024596.4:c.2282C>G
  • NM_024596.4:c.2282C>T
  • NP_001308971.1:p.Ala761Glu
  • NP_001308971.1:p.Ala761Gly
  • NP_001308971.1:p.Ala761Val
  • NP_078872.2:p.Ala761Glu
  • NP_078872.2:p.Ala761Gly
  • NP_078872.2:p.Ala761Val
  • NR_125386.1:n.344G>A
  • NR_125386.1:n.344G>C
  • NR_125386.1:n.344G>T
  • XP_005266091.1:p.Ala761Glu
  • XP_005266091.1:p.Ala761Gly
  • XP_005266091.1:p.Ala761Val
  • XP_005266092.1:p.Ala376Glu
  • XP_005266092.1:p.Ala376Gly
  • XP_005266092.1:p.Ala376Val
  • XP_011533057.1:p.Ala761Glu
  • XP_011533057.1:p.Ala761Gly
  • XP_011533057.1:p.Ala761Val
  • XP_011533062.1:p.Ala586Glu
  • XP_011533062.1:p.Ala586Gly
  • XP_011533062.1:p.Ala586Val
  • XP_016869318.1:p.Ala761Glu
  • XP_016869318.1:p.Ala761Gly
  • XP_016869318.1:p.Ala761Val
  • XP_016869319.1:p.Ala761Glu
  • XP_016869319.1:p.Ala761Gly
  • XP_016869319.1:p.Ala761Val
  • XP_016869320.1:p.Ala694Glu
  • XP_016869320.1:p.Ala694Gly
  • XP_016869320.1:p.Ala694Val
  • XP_016869321.1:p.Ala668Glu
  • XP_016869321.1:p.Ala668Gly
  • XP_016869321.1:p.Ala668Val
  • XP_016869323.1:p.Ala668Glu
  • XP_016869323.1:p.Ala668Gly
  • XP_016869323.1:p.Ala668Val
  • XR_001745596.1:n.2357C>A
  • XR_001745596.1:n.2357C>G
  • XR_001745596.1:n.2357C>T
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 ss279664779 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1057090 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
ss1537479LEE|705018fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc09/13/0010/10/0386cDNAunknown
ss4170936SC_JCM|AC091095.2_41338byFreqrev/TA/Gggggggctgctggcaggcgagacaaacatcctggctggtcggcaaagagggttccgcggt10/15/0104/07/04101Genomicunknown
ss4425380LEE|e705018fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc04/26/0210/10/03106cDNAunknown
ss15949764SC_SNP|NT_023736.16_6466450fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc11/17/0311/22/03120Genomicunknown
ss16265664CGAP-GAI|1531672rev/TA/Gggggggctgctggcaggcgagacaaacatcctggctggtcggcaaagagggttccgcggt11/18/0311/22/03120cDNAunknown
ss24370925PERLEGEN|afd1856884byFreqfwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc08/10/0409/13/04123Genomicunknown
ss44879851ABI|hCV2896417byFreqfwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc07/19/0511/03/06126Genomicunknown
ss48416529APPLERA_GI|hCV2896417byFreqfwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc09/28/0511/03/06126Genomicunknown
ss66570991ILLUMINA|HumanHap300v1.1_rs1057090fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc11/09/0611/09/06127Genomicunknown
ss69038287PERLEGEN|PGP01856884byFreqfwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc01/30/0708/14/07127Genomicunknown
ss70376970ILLUMINA|HumanHap300v2.0_rs1057090fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc04/18/0711/18/07127Genomicunknown
ss70492421ILLUMINA|HumanHap550v3.0__rs1057090rev/TA/Gggggggctgctggcaggcgagacaaacatcctggctggtcggcaaagagggttccgcggt04/20/0703/30/08130Genomicunknown
ss71017102ILLUMINA|HumanHap650Yv3.0_rs1057090fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc04/23/0704/23/07127Genomicunknown
ss74806634AFFY|SNP_M-176617fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc08/09/0708/09/07128Genomicunknown
ss74939987ILLUMINA|ILMN_Human_1M_rs1057090fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc08/28/0708/29/07129Genomicunknown
ss76883576SI_EXO|NT_023736.16_6466450byFreqfwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc09/20/0709/05/14129Genomicunknown
ss78376265HGSV|Cor12878_SNV_20070510.chr8_6466450fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc10/17/0710/19/07129Genomicunknown
ss98044012HUMANGENOME_JCVI|1103652232327fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc03/30/0803/31/08130Genomicunknown
ss105594459BGI|BGI_rs1057090fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc09/10/0806/18/09130Genomicunknown
ss1127802121000GENOMES|CEU.trio.12.15.2008_1918188_chr8_6466450fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc12/18/0812/18/08130Genomicunknown
ss1148899851000GENOMES|NA19240_2008_12_16_1729094_chr8_6466450fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc12/18/0812/18/08130Genomicunknown
ss115838226ILLUMINA-UK|NA18507_000019663_NCBI36.1_chr8_6466450fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc01/16/0901/16/09130Genomic99 %
ss121372492ILLUMINA|HumanCNV370v1_C_rs1057090fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc04/14/0904/14/09131Genomicunknown
ss143519543ENSEMBL|ENSSNP8511523fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc12/08/0810/19/09131Genomicunknown
ss152795673ILLUMINA|Human610_Quadv1_B_rs1057090-128_T_R_1501610043rev/TA/Gggggggctgctggcaggcgagacaaacatcctggctggtcggcaaagagggttccgcggt06/18/0906/19/09131Genomicunknown
ss155946431GMI|GMI_SNP_95671291fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc06/24/0906/24/09131Genomicunknown
ss159137236ILLUMINA|Human660W-Quad_v1_A_rs1057090-128_T_R_1501610043rev/TA/Gggggggctgctggcaggcgagacaaacatcctggctggtcggcaaagagggttccgcggt07/06/0907/06/09131Genomicunknown
ss159716303SEATTLESEQ|MCPH1-6466450fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc07/10/0907/10/09131Genomicunknown
ss159910943ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1057090-128_T_R_1501610043rev/TA/Gggggggctgctggcaggcgagacaaacatcctggctggtcggcaaagagggttccgcggt08/04/0910/01/09131Genomicunknown
ss163832211COMPLETE_GENOMICS|NA19240_36_chr8_6466450fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc09/29/0909/29/09132Genomicunknown
ss166154843COMPLETE_GENOMICS|NA20431_36_chr8_6466450fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc09/30/0909/30/09132Genomicunknown
ss169570622ILLUMINA|HumanCNV370-Quadv3_C_rs1057090-128_T_R_1501610043rev/TA/Gggggggctgctggcaggcgagacaaacatcctggctggtcggcaaagagggttccgcggt10/01/0910/02/09132Genomicunknown
ss170388136ILLUMINA|Human1M-Duov3_B_rs1057090-128_T_R_1501610043rev/TA/Gggggggctgctggcaggcgagacaaacatcctggctggtcggcaaagagggttccgcggt10/01/0910/01/09132Genomicunknown
ss198715568BUSHMAN|BUSHMAN-chr8-6466449fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc02/16/1003/06/10132Genomicunknown
ss208645117BCM-HGSC-SUB|BCM_CMT_1011-1684028fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc03/15/1003/19/10132Genomicunknown
ss2235104591000GENOMES|pilot_1_YRI_5320142_chr8_6466450fwd/C/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc04/22/1004/22/10132Genomicunknown
ss2342968361000GENOMES|pilot_1_CEU_3901465_chr8_6466450fwd/C/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc05/01/1005/01/10132Genomicunknown
ss2411844751000GENOMES|pilot_1_CHB+JPT_3069552_chr8_6466450fwd/C/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc05/01/1005/01/10132Genomicunknown
ss254054543BL|SNP16809_8_6466450fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc08/19/1008/19/10134Genomicunknown
ss279664779GMI|GMI_AK_SNP_3985028fwd/C/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc12/16/1012/16/10137Genomicunknown
ss475893519GENEREVIEWS|NM_024596.3:c.2282C>Tfwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc12/12/1112/12/11136Genomicunknown
ss479319754ILLUMINA|HumanOmni2.5-4v1_B_rs1057090-128_T_R_1767293779fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc01/30/1210/29/16137Genomicunknown
ss479322972ILLUMINA|HumanOmniExpress-12v1_C_rs1057090-131_T_R_1857123629fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc01/30/1210/27/16137Genomicunknown
ss479709660ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1057090-131_T_R_1865541070fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc01/30/1208/28/15146Genomicunknown
ss484460189ILLUMINA|HumanOmni2.5-4v1_D_rs1057090-131_T_R_1857123629fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc01/30/1210/28/16137Genomicunknown
ss4909591441000GENOMES|20110521_exome_466942_chr8_6479042fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc02/10/1202/21/12137Genomicunknown
ss491409500EXOME_CHIP|nonsyn_125726_chr_8_6479042fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc03/05/1203/05/12137Genomicunknown
ss491919865CLINSEQ_SNP|SNV-chr8-6466450byFreqfwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/06/1209/05/14137Genomicunknown
ss536279912ILLUMINA|HumanOmni5-4v1_B_kgp8432434-0_T_R_1903214495fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc06/22/1208/29/15146Genomicunknown
ss560510887TISHKOFF|snp_chr8_6479042fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc11/22/1211/23/12138Genomicunknown
ss654936143SSMP|8_6479042fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc12/14/1202/12/15138Genomicunknown
ss712822966NHLBI-ESP|ESP6500SI-chr8-6479042fwd/BC/Taccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc02/20/1302/20/13138Genomicunknown
ss779053630ILLUMINA|HumanOmni25Exome-8v1_A_rs1057090-131_T_R_1889661169fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc05/30/1307/10/15146Genomicunknown
ss782676655ILLUMINA|HumanOmni2.5-4v1_H_rs1057090-131_T_R_1857123629fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc05/30/1307/29/15146Genomicunknown
ss783645271ILLUMINA|HumanOmniExpressExome-8v1_A_rs1057090-131_T_R_1889661169fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc05/31/1306/19/15146Genomicunknown
ss825346581ILLUMINA|HumanCNV370v1_C_rs1057090-126_T_R_IFB1135103022:0fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc06/24/1311/21/14147Genomicunknown
ss831927395ILLUMINA|HumanOmniExpress-12v1_H_rs1057090-131_T_R_1857123629fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc09/17/1306/19/15146Genomicunknown
ss834516627ILLUMINA|HumanOmni2.5-8v1_A_rs1057090-131_T_R_1889661169fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc09/18/1307/29/15146Genomicunknown
ss974467023JMKIDD_LAB|KhoeSan_Exomes_chr8_6479042fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/06/1403/06/14142Genomicunknown
ss985133039EVA-GONL|EVA-GONL_rs1057090fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc04/23/1404/25/14142Genomicunknown
ss1067495054JMKIDD_LAB|HGDP_exomes_chr8_6479042fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc07/09/1407/09/14142Genomicunknown
ss1075230427JMKIDD_LAB|HGDP_WGS_chr8_6479042fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc07/10/1407/11/14142Genomicunknown
ss13283827751000GENOMES|PHASE3_V1_40679691fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc08/16/1408/16/14142Genomicunknown
ss1397515430HAMMER_LAB|HAMMER_LAB_rs1057090fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc09/30/1409/30/14146Genomicunknown
ss1431392842DDI|DDI_rs1057090fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc11/04/1411/05/14144Genomicunknown
ss1493130490CLINVAR|SCV000193569fwd/TA/Caccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc12/05/1412/05/14142Genomicunknown
ss1493130491CLINVAR|SCV000193570fwd/C/Gaccgcggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagcccccc12/05/1412/05/14142Genomicunknown
ss1582532773EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1057090fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc02/19/1502/20/15144Genomicunknown
ss1584056791EVA_FINRISK|EVA_FINRISK_rs1057090fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc02/27/1502/27/15144Genomicunknown
ss1594720871EVA_DECODE|EVA_DECODE_8_6466450_99580_rs1057090fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/02/1503/03/15144Genomicunknown
ss1619861785EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_6479042_22504968fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/04/1503/04/15144Genomicunknown
ss1662855818EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_6479042_22504968fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/04/1503/04/15144Genomicunknown
ss1689069951EVA_EXAC|EVA_EXAC_4157114fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/04/1503/04/15144Genomicunknown
ss1689069952EVA_EXAC|EVA_EXAC_4157115fwd/C/Gggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/04/1503/04/15144Genomicunknown
ss1711190326EVA_MGP|EVA_XIMO_306086fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/09/1503/09/15144Genomicunknown
ss1713010677EVA_SVP|EVA_SVP_705044fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/12/1503/12/15144Genomicunknown
ss1752738598ILLUMINA|OmniExpressExome-8v1-1_B_rs1057090-131_T_R_1889661169fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc05/27/1506/09/15146Genomicunknown
ss1805372377HAMMER_LAB|Hsieh_4386360fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc07/15/1507/16/15146Genomicunknown
ss1928411042WEILL_CORNELL_DGM|SNV:chr8:6479042fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc10/16/1510/17/15147Genomicunknown
ss1946228494ILLUMINA|HumanCoreExome-12v1-0_C_rs1057090-131_T_R_1889661169fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc10/29/1510/29/15147Genomicunknown
ss1959082624ILLUMINA|rs1057090-131_T_R_1889661169fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc11/13/1511/13/15147Genomicunknown
ss1970894287GENOMED|rs1057090fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc02/16/1602/16/16147Genomicunknown
ss2024897425JJLAB|SNP5399980fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc08/29/1608/30/16149Genomicunknown
ss2136756220CSHL|rs1057090fwd/BC/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc12/02/1612/02/16151Genomicunknown
ss2153126151USC_VALOUEV|NC_000008.10:g.6479042C>Tfwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc11/17/1611/17/16150Genomicunknown
ss2300283765HUMAN_LONGEVITY|HLI-8-6621521-C-Tfwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc11/18/1611/18/16150Genomicunknown
ss2469880871TOPMED|8_6479042_C/Tfwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc11/20/1611/20/16150Genomicunknown
ss2626937212SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3450389fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc01/06/1701/06/17151Genomicunknown
ss2634702480ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1057090-131_T_R_18896611fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc02/02/1702/02/17151Genomicunknown
ss2708872926GRF|rs1057090fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc02/13/1702/13/17151Genomicunknown
ss2711128833ILLUMINA|Consortium-OncoArray_15047405_A_rs1057090-131_T_R_1889661169fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc03/22/1703/22/17151Genomicunknown
ss2736958506GNOMAD|exomes_rs1057090fwd/C/G/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc05/17/1705/17/17151Genomicunknown
ss2747985281GNOMAD|coding_rs1057090fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc05/17/1705/17/17151Genomicunknown
ss2862566707GNOMAD|rs1057090fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc05/19/1705/19/17151Genomicunknown
ss2985429868AFFY|Axiom_PsorMich_Affx-32459572fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc05/24/1705/24/17151Genomicunknown
ss3002564215SWEGEN|NC_000008.10:g.6479042C>Tfwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc05/30/1705/30/17151Genomicunknown
ss3022813812ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs1057090-138_T_R_2263737015fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc06/28/1706/28/17151Genomicunknown
ss3023063806EVA_SAMSUNG_MC|EXOMES.8:g6479042c>tfwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc07/03/1707/03/17151Genomicunknown
ss3026239864BIOINF_KMB_FNS_UNIBA|8.6621521C>Tfwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc07/05/1707/05/17151Genomicunknown
ss3348010564CSHL|rs1057090fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc10/02/1710/02/17151Genomicunknown
ss3552360801TOPMED|TOPMed_freeze_5?chr8:6,621,521fwd/C/Tggaaccctctttgccgaccagccaggatgtttgtctcgcctgccagcagc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1057090|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 CCTGGAGCGC GCTGGATTGA ATGACGCTCT CCCAGCACAG CCGGCATTTG CAGTGCATTA
 GAATCTTGCC GTCACTTGCA CACGTCACCA AGTTACTTTA GTGAGAGTTC AGCCTAGCTA
 TGGCTCTGCT GTGCTAACAG TTGCTTTTCA ATATTTTGTT TGAGGCTTTG GAATAATTCA
 AAGGCCTACA CTTTTTTTTT TCTAATTTGT TTCCTTGGAG TTTTACGCAT GGCTACTTCA
 GAAAACGTCA GTTTTATGTC ATTAATGTCA TCATCTTCTC TGGATTCTCA GAATTCAAAA
 TTCACAGGAG CATGGCAGCC TTACATTCAG TCTATTCTTT TCATAAAAAA GGAAGTAAAC
 TGCAACAGTT CGCCTACGCT ATGGAGACTG GAGTGGTCCC ACCTCTGTAA TTCTATCTCT
 GTCTGCCCCA CAGCTGTGCC GAAGCGAGTG CCACTTGTCT GCAGGGCCGT ACCGCGGAAC
 CCTCTTTGCC GACCAGCCAG
 N
 GATGTTTGTC TCGCCTGCCA GCAGCCCCCC AGTGGCCAAG CTCTGTGAAC TAGTCCACCT
 GTGCGGAGGC CGGGTCAGCC AAGTCCCCCG CCAGGCCAGC ATCGTCATCG GGCCCTACAG
 CGGAAAGAAG AAAGCCACAG TCAAGTATCT GTCTGAGAAA TGGGTCTTAG GTAAGAATCC
 AGGCACACAG ACGCTGTGGT GTGGTCCAGA TCTGTGGACA GGTTTCCAGG GAGGGCGGCG
 TCAGGCTCAC ACCCCCTTCC ACGCAGCTGG GGCACCTGGG TTGATGTCTC AGCCTCCAGC
 ATCTGCCCTG GCAGCGTCGT GTGGTCACCC TCGGCATTCC CGCTCCTTGC TGTTAGCAGA
 CGTACAGTTC ACGAGGAAAT GGGAACTCTA ACTGGACTTC CCCACTTGAC TTCCCTGGCT
 CGTGTGAAAA ATCCAGGCTA CCCAAAGCCA CCCCGGGCCA CCCCTGTGGG CACAGACTCT
 CCGGGCACCC CTCTTAGACC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023736.16 ABBA01007056 AC009631 AC009632 AC022578 AC026216 AF287957 AI829673 Hs.155773
dbSNP Blast Analysis
UniGene Cluster ID
490892
3D structure mapping
NP_078872  

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA
C/C
C/T
G
N
T/T
HWPA
C
G
N
T
ss115838226YRI 2IG 1.00000000 0.50000000 0.50000000
ss1328382775EAS 1008AF 0.32839999 0.67159998
EUR 1006AF 0.59240001 0.40759999
AFR 1322AF 0.54610002 0.45389998
AMR 694AF 0.63540000 0.36460000
SAS 978AF 0.51530004 0.48469999
ss143519543ENSEMBL_Venter 2IG 1.00000000 0.50000000 0.50000000
ss163832211YRISub-Saharan African 2IG 1.00000000 0.50000000 0.50000000
ss166154843PGP 2IG 1.00000000 0.50000000 0.50000000
ss1689069951ExAc_Aggregated_Populations121049AF 0.56422603 0.43577394
ss1689069952ExAc_Aggregated_Populations 68300AF 0.999985340.00001464
ss198715568BUSHMAN_POP2 2IG 1.00000000 0.50000000 0.50000000
ss223510459pilot_1_YRI_low_coverage_panel 118AF 0.55932206 0.44067797
ss234296836pilot_1_CEU_low_coverage_panel 120AF 0.53333336 0.46666667
ss241184475pilot_1_CHB+JPT_low_coverage_panel 120AF 0.35833332 0.64166665
ss24370925AFD_EUR_PANELEuropean 48IG 0.333333340.41666666 0.250000000.43857800 0.54166669 0.45833334
AFD_AFR_PANELAfrican American 44IG 0.409090910.45454547 0.136363641.00000000 0.63636363 0.36363637
AFD_CHN_PANELAsian 46IG 0.043478260.39130434 0.565217380.75183000 0.23913044 0.76086956
ss4170936CEPH 184AF 0.63999999 0.36000004
CHMJAsian 74IG0.66216218 0.324324310.01351351 0.66216218 0.324324310.01351351
ss44879851AoD_African_American 90AF 0.60000002 0.40000001
AoD_Caucasian 92AF 0.60000002 0.40000001
ss48416529AGI_ASP populationmultiple 76IG 0.368421050.36842105 0.263157900.15022200 0.55263156 0.44736841
ss491919865CSAgilent 1323GF 0.363999990.51200002 0.124000000.05004300 0.62000000 0.38000000
ss69038287HapMap-CEUEuropean 120IG 0.250000000.51666665 0.233333331.00000000 0.50833333 0.49166667
HapMap-HCBAsian 90IG 0.266666680.31111112 0.422222230.02002200 0.42222223 0.57777780
HapMap-JPTAsian 90IG 0.066666670.44444445 0.488888890.58388200 0.28888890 0.71111113
HapMap-YRISub-Saharan African 120IG 0.383333330.44999999 0.166666670.75183000 0.60833335 0.39166668
ss76883576HapMap-CEUEuropean 224IG 0.312500000.49107143 0.196428571.00000000 0.55803573 0.44196430
HapMap-HCBAsian 86IG 0.279069780.32558140 0.395348850.05004300 0.44186047 0.55813956
HapMap-JPTAsian 172IG 0.058139540.48837209 0.453488380.15022200 0.30232558 0.69767439
HapMap-YRISub-Saharan African 226IG 0.336283180.42477876 0.238938050.15022200 0.54867256 0.45132744
HAPMAP-ASW 96IG 0.291666660.45833334 0.250000000.58388200 0.52083331 0.47916666
HAPMAP-CHBAsian 80IG 0.125000000.47499999 0.400000011.00000000 0.36250001 0.63749999
HAPMAP-CHD 170IG 0.094117650.45882353 0.447058830.75183000 0.32352942 0.67647058
HAPMAP-GIH 176IG 0.261363630.47727272 0.261363630.75183000 0.50000000 0.50000000
HAPMAP-LWK 180IG 0.166666670.53333336 0.300000010.43857800 0.43333334 0.56666666
HAPMAP-MEX 100IG 0.440000000.40000001 0.160000000.37109300 0.63999999 0.36000001
HAPMAP-MKK 284IG 0.330985900.43661973 0.232394370.20032500 0.54929578 0.45070422
HAPMAP-TSI 176IG 0.454545470.42045453 0.125000000.65472100 0.66477275 0.33522728
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss98044012J. Craig Venter 2IG 1.00000000 0.50000000 0.50000000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict		Additional Freq. Data
0.492+/-0.0630000ALFRED: 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: ILLUMINA
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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