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Reference SNP (refSNP) Cluster Report: rs2042831                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:94/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.1863/933 (1000 Genomes)
A=0.0545/6843 (TOPMED)
HGVS Names
  • CM000664.2:g.234948470A>G
  • CM000664.2:g.234948470A>T
  • NC_000002.11:g.235857114A>G
  • NC_000002.12:g.234948470A>G
  • NC_000002.12:g.234948470A>T
  • NG_033930.1:g.1487A>G
  • NG_033930.1:g.1487A>T
  • XR_001739936.1:n.339-394A>G
  • XR_001739936.1:n.339-394A>T
  • XR_001739937.1:n.339-394A>G
  • XR_001739937.1:n.339-394A>T
  • XR_001739938.1:n.279-394A>G
  • XR_001739938.1:n.279-394A>T
  • XR_001739939.1:n.339-394A>G
  • XR_001739939.1:n.339-394A>T
  • XR_001739940.1:n.339-394A>G
  • XR_001739940.1:n.339-394A>T
  • XR_924001.2:n.339-394A>G
  • XR_924001.2:n.339-394A>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 ss2952548 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2042831 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
ss2952548TSC-CSHL|TSC1060089byFreqfwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac01/29/0104/07/0494Genomicunknown
ss10010464BCM_SSAHASNP|chr2.NT_005120.13_1787584fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac06/27/0310/10/03116Genomicunknown
ss14480404WUGSC_SSAHASNP|chr2.NT_005120.14_1787584fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac11/05/0311/22/03119Genomicunknown
ss21663944SSAHASNP|WGSA-200403-chr2.chr2.NT_005120.14_1787584fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac03/20/0403/20/04121Genomicunknown
ss46537356PERLEGEN|PS04626383fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac08/01/0508/01/05126Genomicunknown
ss66805182ILLUMINA|HumanHap300v1.1_rs2042831fwd/BA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac11/09/0611/09/06127Genomicunknown
ss67218510ILLUMINA|HumanHap550v1.1_rs2042831fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac11/14/0611/14/06127Genomicunknown
ss67612532ILLUMINA|HumanHap650Yv1.0_rs2042831fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac11/14/0611/14/06127Genomicunknown
ss68847076PERLEGEN|PGP04626383byFreqfwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac01/30/0708/14/07127Genomicunknown
ss70696788ILLUMINA|HumanHap550v3.0__rs2042831rev/BC/Tgttcttctggtgaagtgaaatcattaatgacaaaatgcccatgtcacagggaaaatagaa04/20/0703/30/08130Genomicunknown
ss71262416ILLUMINA|HumanHap650Yv3.0_rs2042831fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac04/23/0704/23/07127Genomicunknown
ss75842578ILLUMINA|ILMN_Human_1M_rs2042831fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac08/28/0708/29/07129Genomicunknown
ss79109707ILLUMINA|HumanHap300v2.0_rs2042831fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac04/18/0711/18/07130Genomicunknown
ss83953843KRIBB_YJKIM|KHS582895fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac12/04/0712/06/07130Genomicunknown
ss84136226HGSV|Cor18555_SNV_20070510.chr2_235639114fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac11/27/0712/06/07130Genomicunknown
ss91593586BCMHGSC_JDW|JWB-1401965fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac02/26/0803/02/08129Genomicunknown
ss96481724HUMANGENOME_JCVI|1103658399481fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac03/26/0803/26/08130Genomicunknown
ss106169613BGI|BGI_rs2042831fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac09/13/0806/18/09130Genomicunknown
ss1109839201000GENOMES|CEU.trio.12.15.2008_610456_chr2_235521853fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac12/17/0812/17/08130Genomicunknown
ss1118415751000GENOMES|NA19240_2008_12_16_546030_chr2_235521853fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac12/17/0812/17/08130Genomicunknown
ss118127790ILLUMINA-UK|NA18507_000287405_NCBI36.1_chr2_235521853fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac01/19/0901/20/09130Genomic99 %
ss121897098ILLUMINA|HumanCNV370v1_C_rs2042831fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac04/14/0904/14/09131Genomicunknown
ss135930488ENSEMBL|ENSSNP1743175fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac12/08/0810/14/09131Genomicunknown
ss138653344ENSEMBL|ENSSNP12235375fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac05/15/0905/18/09131Genomicunknown
ss153828761ILLUMINA|Human610_Quadv1_B_rs2042831-128_B_R_1501703537rev/BC/Tgttcttctggtgaagtgaaatcattaatgacaaaatgcccatgtcacagggaaaatagaa06/18/0906/20/09131Genomicunknown
ss154882363GMI|GMI_SNP_138638387fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac06/24/0906/24/09131Genomicunknown
ss159352224ILLUMINA|Human660W-Quad_v1_A_rs2042831-128_B_R_1501703537rev/BC/Tgttcttctggtgaagtgaaatcattaatgacaaaatgcccatgtcacagggaaaatagaa07/06/0907/07/09131Genomicunknown
ss160493111ILLUMINA|HumanOmni1-Quad_v1-0_B_rs2042831-128_B_R_1501703537rev/BC/Tgttcttctggtgaagtgaaatcattaatgacaaaatgcccatgtcacagggaaaatagaa08/04/0910/02/09131Genomicunknown
ss165717422COMPLETE_GENOMICS|NA19240_36_chr2_235521853fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac09/29/0909/30/09132Genomicunknown
ss165968443COMPLETE_GENOMICS|NA07022_36_chr2_235521853fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac09/29/0909/30/09132Genomicunknown
ss167605855COMPLETE_GENOMICS|NA20431_36_chr2_235521853fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac09/30/0909/30/09132Genomicunknown
ss170970239ILLUMINA|HumanCNV370-Quadv3_C_rs2042831-128_B_R_1501703537rev/BC/Tgttcttctggtgaagtgaaatcattaatgacaaaatgcccatgtcacagggaaaatagaa10/01/0910/03/09132Genomicunknown
ss173065414ILLUMINA|Human1M-Duov3_B_rs2042831-128_B_R_1501703537rev/BC/Tgttcttctggtgaagtgaaatcattaatgacaaaatgcccatgtcacagggaaaatagaa10/01/0910/02/09132Genomicunknown
ss201909503BUSHMAN|BUSHMAN-chr2-235521852fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac02/16/1003/08/10132Genomicunknown
ss205621790BCM-HGSC-SUB|BCM_CMT_1011-289811fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac03/15/1003/16/10132Genomicunknown
ss2198869831000GENOMES|pilot_1_YRI_1696666_chr2_235521853fwd/A/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac04/22/1004/22/10132Genomicunknown
ss2316400461000GENOMES|pilot_1_CEU_1244675_chr2_235521853fwd/A/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac05/01/1005/01/10132Genomicunknown
ss2390867691000GENOMES|pilot_1_CHB+JPT_971846_chr2_235521853fwd/A/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac05/01/1005/01/10132Genomicunknown
ss253939534BL|SNP241937_2_235521853fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac08/18/1008/19/10134Genomicunknown
ss276948311GMI|GMI_AK_SNP_1268520fwd/A/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac12/16/1012/16/10137Genomicunknown
ss284565190GMI|GMI_NA10851_SNP_577961fwd/A/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac12/17/1012/17/10138Genomicunknown
ss292513158PJP|SNP_2019516_chr2_235521853fwd/A/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac01/21/1101/21/11134Genomicunknown
ss480394810ILLUMINA|HumanOmni2.5-4v1_B_rs2042831-128_B_R_1771485183fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga01/30/1210/28/16137Genomicunknown
ss480407832ILLUMINA|HumanOmniExpress-12v1_C_rs2042831-131_B_R_1857093572fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga01/30/1210/27/16137Genomicunknown
ss481187060ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2042831-131_B_R_1865466680fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga01/30/1208/28/15146Genomicunknown
ss484995052ILLUMINA|HumanOmni2.5-4v1_D_rs2042831-131_B_R_1857093572fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga01/30/1210/28/16137Genomicunknown
ss491333509EXOME_CHIP|.GWAS._49736_chr_2_235857114fwd/TA/Gttctattttccctgtgacatgggcattttgtcattaatgatttcacttcaccagaagaac03/05/1203/05/12137Genomicunknown
ss537028082ILLUMINA|HumanOmni5-4v1_B_rs2042831-131_B_R_1885470141fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga06/22/1208/28/15146Genomicunknown
ss556312883TISHKOFF|snp_chr2_235857114fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga11/22/1211/23/12138Genomicunknown
ss649973459SSMP|2_235857114fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga12/14/1202/10/15138Genomicunknown
ss778851544ILLUMINA|HumanOmni25Exome-8v1_A_rs2042831-131_B_R_1865466680fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/30/1307/09/15146Genomicunknown
ss780682791ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs2042831-131_B_R_1990480594fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/30/1307/09/15146Genomicunknown
ss782943816ILLUMINA|HumanOmni2.5-4v1_H_rs2042831-131_B_R_1857093572fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/30/1307/28/15146Genomicunknown
ss783356156ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs2042831-131_B_R_1990480594fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/31/1306/19/15146Genomicunknown
ss783906334ILLUMINA|HumanOmniExpressExome-8v1_A_rs2042831-131_B_R_1885470141fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/31/1306/19/15146Genomicunknown
ss825440225ILLUMINA|HumanCNV370v1_C_rs2042831-126_B_R_IFB1137433395:0fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga06/24/1311/21/14144Genomicunknown
ss832199539ILLUMINA|HumanOmniExpress-12v1_H_rs2042831-131_B_R_1857093572fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga09/17/1306/18/15146Genomicunknown
ss834312203ILLUMINA|HumanOmni2.5-8v1_A_rs2042831-131_B_R_1865466680fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga09/18/1307/28/15146Genomicunknown
ss978099411EVA-GONL|EVA-GONL_rs2042831fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga04/23/1404/23/14142Genomicunknown
ss1070044301JMKIDD_LAB|HGDP_WGS_chr2_235857114fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga07/10/1407/10/14142Genomicunknown
ss13021722421000GENOMES|PHASE3_V1_13363921fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga08/16/1408/16/14142Genomicunknown
ss1428953556DDI|DDI_rs2042831fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga11/04/1411/04/14144Genomicunknown
ss1579378148EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2042831fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga02/19/1502/20/15144Genomicunknown
ss1587559699EVA_DECODE|EVA_DECODE_2_235521853_1761622_rs2042831fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga03/02/1503/03/15144Genomicunknown
ss1606078792EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_235857114_7366053fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga03/04/1503/04/15144Genomicunknown
ss1649072825EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_235857114_7366053fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga03/04/1503/04/15144Genomicunknown
ss1752345915ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs2042831-131_B_R_1990480594fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/27/1506/09/15146Genomicunknown
ss1752345916ILLUMINA|OmniExpressExome-8v1-1_B_rs2042831-131_B_R_1885470141fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/27/1506/09/15146Genomicunknown
ss1798585455HAMMER_LAB|Hsieh_1409661fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga07/15/1507/15/15146Genomicunknown
ss1917761625ILLUMINA|HumanExome-12v1-1_B_exm-rs2042831-131_B_R_1990480594fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga10/16/1510/16/15147Genomicunknown
ss1921347406WEILL_CORNELL_DGM|SNV:chr2:235857114fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga10/16/1510/17/15147Genomicunknown
ss1946070328ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs2042831-131_B_R_1990480594fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga10/29/1510/29/15147Genomicunknown
ss1946070329ILLUMINA|HumanCoreExome-12v1-0_C_rs2042831-131_B_R_1885470141fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga10/29/1510/29/15147Genomicunknown
ss1958520391ILLUMINA|exm-rs2042831-131_B_R_1990480594fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga11/13/1511/13/15147Genomicunknown
ss1958520392ILLUMINA|rs2042831-131_B_R_1885470141fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga11/13/1511/13/15147Genomicunknown
ss1969058360GENOMED|rs2042831fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga02/16/1602/16/16147Genomicunknown
ss2021222357JJLAB|SNP1724912fwd/TA/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga08/29/1608/30/16149Genomicunknown
ss2149288675USC_VALOUEV|NC_000002.11:g.235857114A>Gfwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga11/17/1611/17/16150Genomicunknown
ss2240236508HUMAN_LONGEVITY|HLI-2-234948470-A-Gfwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga11/18/1611/18/16150Genomicunknown
ss2406698878TOPMED|2_235857114_A/Gfwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga11/19/1611/19/16150Genomicunknown
ss2625111613SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV1086132fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga01/06/1701/06/17151Genomicunknown
ss2633757113ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs2042831-131_T_F_2131fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga02/02/1702/02/17151Genomicunknown
ss2633757114ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2042831-131_B_R_18854701fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga02/02/1702/02/17151Genomicunknown
ss2633757115ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs2042831-131_T_F_2130fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga02/02/1702/02/17151Genomicunknown
ss2703941590GRF|rs2042831fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga02/13/1702/13/17151Genomicunknown
ss2710929320ILLUMINA|Consortium-OncoArray_15047405_A_rs2042831-131_B_R_1885470141fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga03/22/1703/22/17151Genomicunknown
ss2787812495GNOMAD|rs2042831fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/17/1705/17/17151Genomicunknown
ss2985204308AFFY|Axiom_PsorMich_Affx-19538298fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/24/1705/24/17151Genomicunknown
ss2991574321SWEGEN|NC_000002.11:g.235857114A>Gfwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga05/30/1705/30/17151Genomicunknown
ss3022084885ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs2042831-131_B_R_1990480594fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga06/28/1706/28/17151Genomicunknown
ss3022084886ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs2042831-138_B_R_2263695970fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga06/28/1706/28/17151Genomicunknown
ss3024371511BIOINF_KMB_FNS_UNIBA|2.234948470A>Gfwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga07/05/1707/05/17151Genomicunknown
ss3341807641TOPMED|TOPMed_freeze_5?chr2:234,948,470-01fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga10/02/1710/02/17151Genomicunknown
ss3341807642TOPMED|TOPMed_freeze_5?chr2:234,948,470-02fwd/A/Tttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga10/02/1710/02/17151Genomicunknown
ss3344803899CSHL|rs2042831fwd/A/Gttttccctgtgacatgggcattttgtcattaatgatttcacttcaccaga10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2042831|allelePos=523|totalLen=1169|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 gctcacagtt ctgtgggctg tacaagcatg gctctggcat ctgctcagtt tctgatgagg
 cctcagggag cttttactta tggtggaaag cgaagtggga gcaagagaaa gagggggagg
 tgccacatac tttcaaaggc cagatctccc cagtactcag tcactattgg ggggacagca
 ccaagccatg aggggtctgt caccatgacc cagacacctc ccaccaggtc ccacctccaa
 cattgggagt catatttcaa catgagattt tgaaggaaca aatatccaaa ttttatcaCC
 AACAGAGGGT ATGTATCTAG GCTTGCATTT TGATAACAGG TCCTCTCTCT GCATTCTGAG
 TCAGAGGCAA CTAATTTAAA AATCCATTCA CCCACATTGA CGATTAAATT TCTACTCTTA
 CAGATTCCAT TTGAAAAATA TCCTATGCCT TGTGCTCTTC TTTGCCCTTT AGCTGTGTTT
 TGTACATTTG TATTCTATTT TCCCTGTGAC ATGGGCATTT TG
 D
 TCATTAATGA TTTCACTTCA CCAGAAGAAC ATTATTCTTT TTATTTCATT GCTGAGAATG
 TTTTTGTCCA TAGAGAGATA TTTTCATTAT GGGCCACATG CAATTTCTGA GTAGTTATTT
 CCTAATATGA AGTGTATTTT ATAGGTGGTC AGAATGTTAT AACATATTAG AGAGCTTATG
 TAGAGTTTGG GATAGTGTAT ATTACTTGGG AGTTATTCTT GCCCGGGCTG CTTTTTCTGG
 GAGTGTTGTA TCTATTCTGA GAAGTCCTTG GAATGAATTG GTGGTGCTTG GTGTGATTGA
 ACTGTTGCTG GTGTTAGTAA CAGATGCAGC ACATTGACTG TCAAACCTAC CCCAATCTTT
 CCCTGCTCAT CTGTGTGCAT CTTACTTTCC TAGACAACAG AGCCGCTGAG TACACCCCAA
 CACAGAGGAG CCAGCGCTCA CCGAGAGATT TGCCAAGTGG AGTCCTTTTG AGACATCCAA
 ATTTCACTGT CTTCAACTTA TTAATGTGAA ACAAAGAATA ACGTATATGT GTGTGTAAAC
 ACGAATAGTA ACAGCTTATA TTTGTAAACA ATGTGCCGTG CGCCCAGCAC TACATTAAGC
 AGTCTCCATG CAGCACCTCC ATTAATCCTG GGGAGCACTG TACCCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_005120 ABBA01013930
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/G
G
G/G
HWPA
G
ss118127790YRI 2IG 1.00000000 1.00000000
ss1302172242EAS 1008AF 0.388900010.61109996
EUR 1006AF 0.105400000.89459997
AFR 1322AF 0.062800000.93720001
AMR 694AF 0.112400000.88760000
SAS 978AF 0.280200000.71980000
ss135930488ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 2IG 1.00000000 1.00000000
ss138653344ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss165717422YRISub-Saharan African 2IG 1.00000000 1.00000000
ss165968443CEUEuropean 2IG 1.00000000 1.00000000
ss167605855PGP 2IG 1.00000000 0.500000000.50000000
ss201909503BANTU 1IG 1.00000000 1.00000000
ss219886983pilot_1_YRI_low_coverage_panel 118AF 0.042372880.95762712
ss231640046pilot_1_CEU_low_coverage_panel 120AF 0.108333330.89166665
ss239086769pilot_1_CHB+JPT_low_coverage_panel 120AF 0.408333330.59166664
ss2952548HapMap-CEUEuropean 226IG0.008849560.15929204 0.831858401.000000000.088495570.91150445
HapMap-HCBAsian 84IG0.119047620.35714287 0.523809550.371093000.297619040.70238096
HapMap-JPTAsian 164IG0.268292700.57317072 0.158536580.150222000.554878060.44512194
HapMap-YRISub-Saharan African 222IG 0.09909910 0.900900901.000000000.049549550.95045048
HAPMAP-ASW 98IG 0.12244898 0.877551021.000000000.061224490.93877554
HAPMAP-CHBAsian 82IG0.121951220.60975611 0.268292700.150222000.426829280.57317072
HAPMAP-CHD 170IG0.176470590.47058824 0.352941191.000000000.411764710.58823532
HAPMAP-GIH 174IG 0.32183909 0.678160910.342782000.160919550.83908045
HAPMAP-LWK 178IG0.033707860.20224719 0.764044940.250592000.134831460.86516851
HAPMAP-MEX 100IG 0.12000000 0.880000001.000000000.060000000.94000000
HAPMAP-MKK 284IG0.007042250.16901408 0.823943671.000000000.091549290.90845072
HAPMAP-TSI 170IG0.011764710.20000000 0.788235311.000000000.111764710.88823527
ss96481724J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.303+/-0.2440000ALFRED: 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_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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