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Reference SNP (refSNP) Cluster Report: rs10256972                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
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 (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.3916/1961 (1000 Genomes)
A=0.3822/47990 (TOPMED)
HGVS Names
  • CM000669.2:g.999367A>C
  • NC_000007.13:g.1039003A>C
  • NC_000007.14:g.999367A>C
  • NM_001134395.1:c.405+1103T>G
  • NM_001134396.1:c.405+1103T>G
  • NM_001318252.1:c.405+1103T>G
  • NM_001350968.1:c.405+1103T>G
  • NM_001350969.1:c.363+1103T>G
  • NM_032350.5:c.405+1103T>G
  • NR_134537.1:n.451+1103T>G
  • NR_146964.1:n.520+1103T>G
  • NR_146965.1:n.453+1101T>G
  • NR_146966.1:n.370-1563T>G
  • NR_146967.1:n.451+1103T>G
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 ss279145209 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10256972 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
ss14126777WUGSC_SSAHASNP|chr7.NT_007819.14_334677byFreqfwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt11/05/0310/25/06119Genomicunknown
ss22534425SSAHASNP|WGSA-200403-chr7.chr7.NT_007819.14_334677fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt03/21/0403/21/04121Genomicunknown
ss22909049SSAHASNP|AACC-200403.chr7.NT_007819.14_334677fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt03/22/0403/22/04121Genomicunknown
ss43003775ABI|hCV130329fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt07/18/0507/18/05126Genomicunknown
ss66384864AFFY|SNP_A-2051541byFreqrev/BG/Taagggtggaagtagaatgactggaacagcctg10/29/0603/31/08127Genomicunknown
ss66600142ILLUMINA|HumanHap300v1.1_rs10256972fwd/BA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt11/09/0611/09/06127Genomicunknown
ss66878718ILLUMINA|HumanHap550v1.1_rs10256972fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt11/14/0611/14/06127Genomicunknown
ss66966426ILLUMINA|HumanHap650Yv1.0_rs10256972fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt11/14/0611/14/06127Genomicunknown
ss70363194ILLUMINA|HumanHap300v2.0_rs10256972fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt04/18/0711/17/07127Genomicunknown
ss70474388ILLUMINA|HumanHap550v3.0__rs10256972rev/BG/Tactggggcaggcacaagggtggaagtagaatgactggaacagcctgggaagcctggaaac04/20/0703/29/08130Genomicunknown
ss70996860ILLUMINA|HumanHap650Yv3.0_rs10256972fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt04/23/0704/23/07127Genomicunknown
ss75480937ILLUMINA|ILMN_Human_1M_rs10256972fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt08/28/0708/29/07129Genomicunknown
ss76121626AFFY|AFFY_6_1M_SNP_A-2051541rev/BG/Taagggtggaagtagaatgactggaacagcctg08/28/0708/30/07129Genomicunknown
ss77126497HGSV|Cor12156_SNV_20070510.chr7_812244byFreqfwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt10/09/0709/05/14129Genomicunknown
ss78032471HGSV|Cor12878_SNV_20070510.chr7_812244fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt10/17/0710/17/07129Genomicunknown
ss78499142HGSV|Cor18507_SNV_20070510.chr7_812244fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt10/19/0710/19/07129Genomicunknown
ss81621359HGSV|Cor19240_SNV_20070510.chr7_812244fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt11/30/0712/01/07130Genomicunknown
ss84159482HGSV|Cor19129_SNV_20070510.chr7_812244fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt12/06/0712/06/07130Genomicunknown
ss84176389HGSV|Cor18517_SNV_20070510.chr7_812244fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt12/06/0712/06/07130Genomicunknown
ss84929661KRIBB_YJKIM|KHS851348fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt12/04/0712/08/07130Genomicunknown
ss93611491BCMHGSC_JDW|JWB-2258710fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt02/26/0803/04/08129Genomicunknown
ss1113716511000GENOMES|CEU.trio.12.15.2008_1682267_chr7_1005529fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt12/17/0812/17/08130Genomicunknown
ss1131642931000GENOMES|NA19240_2008_12_16_1511960_chr7_1005529fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt12/18/0812/18/08130Genomicunknown
ss115880678ILLUMINA-UK|NA18507_000000944_NCBI36.1_chr7_1005529fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt01/16/0901/16/09130Genomic99 %
ss121290932ILLUMINA|HumanCNV370v1_C_rs10256972fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt04/14/0904/14/09131Genomicunknown
ss139526720ENSEMBL|ENSSNP3443366fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt12/08/0810/16/09131Genomicunknown
ss142560375ENSEMBL|ENSSNP5979409fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt06/05/0906/05/09131Genomicunknown
ss152701671ILLUMINA|Human610_Quadv1_B_rs10256972-128_B_R_1501595908rev/BG/Tactggggcaggcacaagggtggaagtagaatgactggaacagcctgggaagcctggaaac06/18/0906/19/09131Genomicunknown
ss159118821ILLUMINA|Human660W-Quad_v1_A_rs10256972-128_B_R_1501595908rev/BG/Tactggggcaggcacaagggtggaagtagaatgactggaacagcctgggaagcctggaaac07/06/0907/06/09131Genomicunknown
ss161969012COMPLETE_GENOMICS|NA07022_36_chr7_1005529fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt09/28/0909/28/09132Genomicunknown
ss163519773COMPLETE_GENOMICS|NA19240_36_chr7_1005529fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt09/29/0909/29/09132Genomicunknown
ss165996847COMPLETE_GENOMICS|NA20431_36_chr7_1005529fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt09/30/0909/30/09132Genomicunknown
ss169340576ILLUMINA|HumanCNV370-Quadv3_C_rs10256972-128_B_R_1501595908rev/BG/Tactggggcaggcacaagggtggaagtagaatgactggaacagcctgggaagcctggaaac10/01/0910/02/09132Genomicunknown
ss169937373ILLUMINA|Human1M-Duov3_B_rs10256972-128_B_R_1501595908rev/BG/Tactggggcaggcacaagggtggaagtagaatgactggaacagcctgggaagcctggaaac10/01/0910/01/09132Genomicunknown
ss172567891AFFY|GenomeWideSNP_5_SNP_A-2051541rev/BG/Taagggtggaagtagaatgactggaacagcctg10/01/0910/02/09132Genomicunknown
ss202812438BUSHMAN|BUSHMAN-chr7-1005528fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt02/16/1003/08/10132Genomicunknown
ss2228483971000GENOMES|pilot_1_YRI_4658080_chr7_1005529fwd/A/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt04/22/1004/22/10132Genomicunknown
ss2338072731000GENOMES|pilot_1_CEU_3411902_chr7_1005529fwd/A/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt05/01/1005/01/10132Genomicunknown
ss2407979591000GENOMES|pilot_1_CHB+JPT_2683036_chr7_1005529fwd/A/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt05/01/1005/01/10132Genomicunknown
ss253977412BL|SNP1449_7_1005529fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt08/19/1008/19/10134Genomicunknown
ss279145209GMI|GMI_AK_SNP_3465454fwd/A/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt12/16/1012/16/10137Genomicunknown
ss285558298GMI|GMI_NA10851_SNP_1571071fwd/A/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt12/17/1012/17/10138Genomicunknown
ss293850792PJP|SNP_3357150_chr7_1005529fwd/A/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt01/21/1101/21/11134Genomicunknown
ss483125399ILLUMINA|HumanOmni2.5-4v1_D_kgp3188918-0_B_R_1809752226fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc01/30/1210/28/16137Genomicunknown
ss485313397ILLUMINA|HumanOmni2.5-4v1_B_SNP7-1005529-0_B_R_1632479590fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc01/30/1210/28/16137Genomicunknown
ss491395443EXOME_CHIP|.GWAS._111669_chr_7_1039003fwd/TA/Cgtttccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgccccagt03/05/1203/05/12137Genomicunknown
ss535348245ILLUMINA|HumanOmni5-4v1_B_kgp3188918-0_B_R_1809752226fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc06/22/1208/29/15146Genomicunknown
ss559735073TISHKOFF|snp_chr7_1039003fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc11/22/1211/23/12138Genomicunknown
ss654084106SSMP|7_1039003fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc12/14/1202/11/15138Genomicunknown
ss780160474ILLUMINA|HumanOmni25Exome-8v1_A_kgp3188918-0_B_R_1809752226fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc05/30/1307/09/15146Genomicunknown
ss780680385ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs10256972-131_B_R_1990477779fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc05/30/1307/09/15146Genomicunknown
ss782006018ILLUMINA|HumanOmni2.5-4v1_H_kgp3188918-0_B_R_1809752226fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc05/30/1307/29/15146Genomicunknown
ss783353662ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs10256972-131_B_R_1990477779fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc05/31/1306/19/15146Genomicunknown
ss825332925ILLUMINA|HumanCNV370v1_C_rs10256972-126_B_R_IFB1135410868:0fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc06/24/1311/21/14144Genomicunknown
ss835644234ILLUMINA|HumanOmni2.5-8v1_A_kgp3188918-0_B_R_1809752226fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc09/18/1307/28/15146Genomicunknown
ss983832062EVA-GONL|EVA-GONL_rs10256972fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc04/23/1404/24/14142Genomicunknown
ss1074279405JMKIDD_LAB|HGDP_WGS_chr7_1039003fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc07/10/1407/11/14142Genomicunknown
ss13235070281000GENOMES|PHASE3_V1_35608692fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc08/16/1408/16/14142Genomicunknown
ss1430993366DDI|DDI_rs10256972fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc11/04/1411/05/14144Genomicunknown
ss1582025384EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10256972fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc02/19/1502/20/15144Genomicunknown
ss1593399764EVA_DECODE|EVA_DECODE_7_1005529_7942_rs10256972fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc03/02/1503/03/15144Genomicunknown
ss1617358973EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_7_1039003_19755720fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc03/04/1503/04/15144Genomicunknown
ss1660353006EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_7_1039003_19755720fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc03/04/1503/04/15144Genomicunknown
ss1712924209EVA_SVP|EVA_SVP_618576fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc03/12/1503/12/15144Genomicunknown
ss1752656407ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs10256972-131_B_R_1990477779fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc05/27/1506/09/15146Genomicunknown
ss1804817441HAMMER_LAB|Hsieh_3829173fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc07/15/1507/16/15146Genomicunknown
ss1917813906ILLUMINA|HumanExome-12v1-1_B_exm-rs10256972-131_B_R_1990477779fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc10/16/1510/16/15147Genomicunknown
ss1927076932WEILL_CORNELL_DGM|SNV:chr7:1039003fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc10/16/1510/17/15147Genomicunknown
ss1946199514ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs10256972-131_B_R_1990477779fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc10/29/1510/29/15147Genomicunknown
ss1958978813ILLUMINA|exm-rs10256972-131_B_R_1990477779fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc11/13/1511/13/15147Genomicunknown
ss1970599715GENOMED|rs10256972fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc02/16/1602/16/16147Genomicunknown
ss2024206192JJLAB|SNP4708747fwd/TA/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc08/29/1608/30/16149Genomicunknown
ss2152405401USC_VALOUEV|NC_000007.13:g.1039003A>Cfwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc11/17/1611/17/16150Genomicunknown
ss2290929962HUMAN_LONGEVITY|HLI-7-999367-A-Cfwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc11/18/1611/18/16150Genomicunknown
ss2459607651TOPMED|7_1039003_A/Cfwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc11/20/1611/20/16150Genomicunknown
ss2626595474SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3011305fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc01/06/1701/06/17151Genomicunknown
ss2634552444ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp3188918-0_B_R_180975222fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc02/02/1702/02/17151Genomicunknown
ss2634552445ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs10256972-131_B_R_1908652fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc02/02/1702/02/17151Genomicunknown
ss2634552446ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs10256972-131_B_R_213fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc02/02/1702/02/17151Genomicunknown
ss2635166639ILLUMINA|Cancer_BeadChip_11459870_A_rs10256972-128_B_R_1782921955fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc02/02/1702/02/17151Genomicunknown
ss2708054301GRF|rs10256972fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc02/13/1702/13/17151Genomicunknown
ss2848584083GNOMAD|rs10256972fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc05/19/1705/19/17151Genomicunknown
ss2985396860AFFY|Axiom_PsorMich_Affx-29354456fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc05/24/1705/24/17151Genomicunknown
ss3000452812SWEGEN|NC_000007.13:g.1039003A>Cfwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc05/30/1705/30/17151Genomicunknown
ss3022697756ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs10256972-131_B_R_1990477779fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc06/28/1706/28/17151Genomicunknown
ss3025898406BIOINF_KMB_FNS_UNIBA|7.999367A>Cfwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc07/05/1707/05/17151Genomicunknown
ss3347382971CSHL|rs10256972fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc10/02/1710/02/17151Genomicunknown
ss3519812866TOPMED|TOPMed_freeze_5?chr7:999,367fwd/A/Ccaggcttcccaggctgttccagtcattctacttccacccttgtgcctgcc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10256972|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 TCATCTAAGA GTTTTGGTTT TAGCTTTTAA ATTTAAGTCT CTGATCCATT TTGAGTTAAT
 TTTTGCATAT GGTTTGAAGC TGGGGGCTGC GTGCATTAAG TATCGGCATG TTCGTAAATA
 TGTACGGTTA CATATGAAAT AAAAATGTAT AAGTAAAATG CACATTTGTG TGTTTGTAAA
 TATGTTTAAT TACAATAGTG TAAGATAACT TTGCGTGTGT GTGTGTGTGT ATACACACAT
 ATAAATGGCT AACCAAGGAT TTGCCTAACC AAGGATTATT TTTCTGTATA AAAAGTTTTG
 TATAAAGTTT ACTTTTGGTA ATAGTAACAT ATAAATAAAA CCACGTAAAC TTTGGTTAAA
 ACAAAACAAA ACGTGGAAAC CCAGTTGTCC CTGGCTCTGT TAAGAAGAGG TTTCCTCCAC
 ATGGAACAGG CTTGGCCCGC ATGCTGGAAT CAGCTGCGCC GGGCGTGAGG GTTTCCAGGC
 TTCCCAGGCT GTTCCAGTCA
 M
 TTCTACTTCC ACCCTTGTGC CTGCCCCAGT GTCGCGATTA CCGGAGCTTG CAATAGGGCT
 TACAATCGGC TTGCAATAGG GCTTGCAATG TGTATGTCCT CTAACTCTGA GGAGGGAGAG
 TGGCTTGAGC CCAGGAGGTC GAGGCTGCAG TGAACTGTGG TCGTGTCACT GCACTCCAGC
 CTGGGCGGGG CCCTGTCTCA AAAAACGCCC ACAAAAAAAC AAAAACAACA AAATAATGAA
 AGCAAGTGGC TGCAGGCTAT GCCTGGAATG TCCCAGGGCT GTGAGTGGGG CTGGTGGGCC
 TGCCCCGCTC TGAGAGTCTG CAAACACAGG CACGGCAGGA GAAAACCGCC CCCTGCCCCC
 AGCGCGCACG CAAAGCCTGG CCTCTAGTAA CGTGGGCGCA GGAGAGCCAG CGAGGCAGGA
 GGCACTGCCC ACCGGATGCA GCTCAGCAGA ACCGTGGGCT CCTCCAGCCT CACAGGACAT
 GGGCAGCTCC AGCCCGCCGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007819
dbSNP Blast Analysis

  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/A
A/C
C/C
HWPA
C
ss115880678YRI 2IG 1.00000000 1.00000000
ss1323507028EAS 1008AF 0.556500020.44350001
EUR 1006AF 0.504000010.49600002
AFR 1322AF 0.086200000.91380000
AMR 694AF 0.379000010.62099999
SAS 978AF 0.527599990.47240001
ss139526720ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss142560375ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss161969012CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss163519773YRISub-Saharan African 2IG 1.00000000 1.00000000
ss165996847PGP 2IG 1.00000000 0.500000000.50000000
ss222848397pilot_1_YRI_low_coverage_panel 118AF 0.067796610.93220341
ss233807273pilot_1_CEU_low_coverage_panel 120AF 0.441666660.55833334
ss240797959pilot_1_CHB+JPT_low_coverage_panel 120AF 0.500000000.50000000
ss66384864HapMap-CEUEuropean 118IG0.203389820.542372880.254237290.527089000.474576260.52542371
HapMap-HCBAsian 90IG0.266666680.555555580.177777780.438578000.544444440.45555556
HapMap-JPTAsian 90IG0.133333340.577777800.288888900.250592000.422222230.57777780
HapMap-YRISub-Saharan African 120IG0.016666670.133333340.850000020.342782000.083333340.91666669
ss76121626ICMHP 8IG 1.00000000 1.00000000
ss77126497HapMap-CEUEuropean 226IG0.203539820.539823000.256637160.402784000.473451320.52654868
HapMap-HCBAsian 86IG0.279069780.581395330.139534890.250592000.569767420.43023255
HapMap-JPTAsian 172IG0.197674420.465116290.337209310.654721000.430232550.56976742
HapMap-YRISub-Saharan African 226IG0.008849560.123893800.867256640.583882000.070796460.92920351
HAPMAP-ASW 98IG 0.244897960.755102040.654721000.122448980.87755102
HAPMAP-CHBAsian 82IG0.243902440.487804890.268292701.000000000.487804890.51219511
HAPMAP-CHD 170IG0.435294120.411764710.152941180.342782000.641176460.35882354
HAPMAP-GIH 176IG0.193181810.522727250.284090910.654721000.454545470.54545456
HAPMAP-LWK 180IG0.011111110.144444450.844444450.654721000.083333340.91666669
HAPMAP-MEX 100IG0.120000000.440000000.440000001.000000000.340000000.66000003
HAPMAP-MKK 284IG0.028169010.323943670.647887350.583882000.190140840.80985916
HAPMAP-TSI 176IG0.295454530.522727250.181818190.583882000.556818190.44318181

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.476+/-0.1060000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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