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Reference SNP (refSNP) Cluster Report: rs1057910                 ** With drug-response allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G (FWD)
Allele Origin:A:germline
C:germline
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:With drug-response allele [ClinVar]
MAF/MinorAlleleCount:C=0.0637/7725 (ExAC)
C=0.0485/243 (1000 Genomes)
C=0.0484/630 (GO-ESP)
C=0.0452/5676 (TOPMED)
HGVS Names
  • CM000672.2:g.94981296A>C
  • CM000672.2:g.94981296A>G
  • NC_000010.10:g.96741053A=
  • NC_000010.10:g.96741053A>C
  • NC_000010.11:g.94981296A=
  • NC_000010.11:g.94981296A>C
  • NC_000010.11:g.94981296A>G
  • NG_008385.1:g.47639A=
  • NG_008385.1:g.47639A>C
  • NG_008385.1:g.47639A>G
  • NM_000771.3:c.1075A=
  • NM_000771.3:c.1075A>C
  • NM_000771.3:c.1075A>G
  • NP_000762.2:p.Ile359=
  • NP_000762.2:p.Ile359Leu
  • NP_000762.2:p.Ile359Val
  • XP_005269632.1:p.Ile359=
  • XP_005269632.1:p.Ile359Leu
  • XP_016871247.1:p.Ile359=
  • XP_016871247.1:p.Ile359Leu
  • XP_016871247.1:p.Ile359Val
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 ss76884483 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1057910 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
ss1538933LEE|741019fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg09/13/0010/10/0386cDNAunknown
ss2419886HGBASE|SNP000000187fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc11/07/0010/10/0389Genomicunknown
ss4426472LEE|e741019fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg04/26/0210/10/03106cDNAunknown
ss5586419SNP500CANCER|CYP2C9-01byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg09/26/0204/07/04113Genomicunknown
ss12588583EGP_SNPS|CYP2C9-045324byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg08/20/0304/07/04119Genomicunknown
ss28501344IMCJ-GDT|IMCJ-CYP2C9_9-ACfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg08/20/0408/20/04126Genomicunknown
ss32475993BIOVENTURES|BV06030fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg12/29/04125Genomicunknown
ss66633834ILLUMINA|HumanHap300v1.1_rs1057910fwd/BA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg11/09/0611/09/06127Genomicunknown
ss66862440EGP_SNPS|CYP2C9_045324byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg11/09/0612/16/06127Genomicunknown
ss66896412ILLUMINA|HumanHap550v1.1_rs1057910fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg11/14/0611/14/06127Genomicunknown
ss67006369ILLUMINA|HumanHap650Yv1.0_rs1057910fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg11/14/0611/14/06127Genomicunknown
ss68421487CSHL-HAPMAP|sanger:assay:474619:1fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg01/11/0701/12/07127NAunknown
ss69088153PERLEGEN|PGP04773171byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg01/30/0708/14/07127Genomicunknown
ss69365624PHARMGKB_COBRA|PS203827_PA130443284_21byFreqfwd/TA/Catgctgtggttgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg03/22/0708/14/07127Genomicunknown
ss69366288PHARMGKB_PAT|PS203873_PA130478248_215byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg03/22/0708/14/07127Genomicunknown
ss69366432PHARMGKB_COBRA|PS203826_PA130491143_21fwd/TA/Catgctgtggttgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg03/22/0703/22/07127Genomicunknown
ss69367461PHARMGKB_COBRA|PS203828_PA130491272_21byFreqfwd/TA/Catgctgtggttgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg03/22/0708/14/07127Genomicunknown
ss70377003ILLUMINA|HumanHap300v2.0_rs1057910fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg04/18/0711/18/07127Genomicunknown
ss70492465ILLUMINA|HumanHap550v3.0__rs1057910rev/BG/Tcatggggcaggctggtggggagaaggtcaagtatctctggacctcgtgcaccacagcatc04/20/0703/30/08130Genomicunknown
ss71017148ILLUMINA|HumanHap650Yv3.0_rs1057910fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg04/23/0704/23/07127Genomicunknown
ss75526698ILLUMINA|ILMN_Human_1M_rs1057910fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg08/28/0708/29/07129Genomicunknown
ss76884483SI_EXO|NT_030059.12_15489579byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg09/20/0709/05/14129Genomicunknown
ss79314175CCHMC-CAE-PGCORE|CYP2C9_42614A>Cfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg11/20/0711/20/07130Genomicunknown
ss83675538KRIBB_YJKIM|KHS516650fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg12/04/0712/05/07130Genomicunknown
ss84158157PHARMGKB_AB_DME|PS206196_PA149566604_301byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg12/06/0709/05/14130Genomicunknown
ss105107895PHARMGKB_PBAT|PS206608_PA152209537_7534byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg07/23/0809/05/14130Genomicunknown
ss105108091PHARMGKB_PEAR|PS206815_PA152211300_136byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg07/23/0809/05/14130Genomicunknown
ss105109763PHARMGKB_PBAT|PS207514_PA154394459_7534byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg07/23/0809/05/14130Genomicunknown
ss121372691ILLUMINA|HumanCNV370v1_C_rs1057910fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg04/14/0904/14/09131Genomicunknown
ss152795933ILLUMINA|Human610_Quadv1_B_rs1057910-128_B_R_1501607759rev/BG/Tcatggggcaggctggtggggagaaggtcaagtatctctggacctcgtgcaccacagcatc06/18/0906/19/09131Genomicunknown
ss159137280ILLUMINA|Human660W-Quad_v1_A_rs1057910-128_B_R_1501607759rev/BG/Tcatggggcaggctggtggggagaaggtcaagtatctctggacctcgtgcaccacagcatc07/06/0907/06/09131Genomicunknown
ss161109628ILLUMINA|HumanOmni1-Quad_v1-0_B_VG10S3890-0_B_R_1569786729rev/BG/Tcatggggcaggctggtggggagaaggtcaagtatctctggacctcgtgcaccacagcatc08/04/0910/05/09131Genomicunknown
ss169571265ILLUMINA|HumanCNV370-Quadv3_C_rs1057910-128_B_R_1501607759rev/BG/Tcatggggcaggctggtggggagaaggtcaagtatctctggacctcgtgcaccacagcatc10/01/0910/02/09132Genomicunknown
ss170390048ILLUMINA|Human1M-Duov3_B_rs1057910-128_B_R_1501607759rev/BG/Tcatggggcaggctggtggggagaaggtcaagtatctctggacctcgtgcaccacagcatc10/01/0910/01/09132Genomicunknown
ss207372734BCM-HGSC-SUB|BCM_CMT_1011-2080849fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg03/15/1003/18/10132Genomicunknown
ss2352931561000GENOMES|pilot_1_CEU_4897785_chr10_96731043fwd/A/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg05/01/1005/01/10132Genomicunknown
ss2419762601000GENOMES|pilot_1_CHB+JPT_3861337_chr10_96731043fwd/A/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg05/01/1005/01/10132Genomicunknown
ss244238827OMICIA|2010_April_001_029_CYP2C9_601130_0001fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg05/27/1005/28/10132Genomicunknown
ss244269683ILLUMINA|CVDSNP55v1_A_rs1057910rev/BG/Tcatggggcaggctggtggggagaaggtcaagtatctctggacctcgtgcaccacagcatc06/10/1006/10/10132Genomicunknown
ss256302165OMIM-CURATED-RECORDS|9918fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg08/26/1008/26/10132Genomicunknown
ss342304169NHLBI-ESP|ESP2500-chr10-96741053byFreqfwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg03/25/1109/05/14134Genomicunknown
ss410888155ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs1057910rev/BG/Tcatggggcaggctggtggggagaaggtcaagtatctctggacctcgtgcaccacagcatc06/07/1106/07/11135Genomicunknown
ss482693779ILLUMINA|HumanOmni2.5-4v1_B_SNP10-96731043-0_B_R_1629261397fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc01/30/1210/28/16137Genomicunknown
ss483026418ILLUMINA|HumanOmni1-Quad_v1-0_C_VG10S3890-0_B_R_1858975560fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc01/30/1208/28/15146Genomicunknown
ss484045519ILLUMINA|HumanOmni2.5-4v1_D_kgp8192050-0_B_R_1814468762fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc01/30/1210/27/16137Genomicunknown
ss4910016741000GENOMES|20110521_exome_509472_chr10_96741053fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg02/10/1202/21/12137Genomicunknown
ss491438637EXOME_CHIP|nonsyn_154863_chr_10_96741053fwd/TA/Cgatgctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgccccatg03/05/1203/05/12137Genomicunknown
ss491629979CLINSEQ_SNP|SNV-chr10-96731043byFreqfwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc03/06/1209/05/14137Genomicunknown
ss536236827ILLUMINA|HumanOmni5-4v1_B_kgp8192050-0_B_R_1814468762fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc06/22/1208/29/15146Genomicunknown
ss657186290SSMP|10_96741053fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc12/14/1202/12/15138Genomicunknown
ss778683444ILLUMINA|HumanOmni25Exome-8v1_A_kgp8192050-0_B_R_1814468762fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/30/1307/10/15146Genomicunknown
ss780889011ILLUMINA|HumanOmni25Exome-8v1_A_exm844046-0_B_R_1921069953fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/30/1307/10/15146Genomicunknown
ss782467384ILLUMINA|HumanOmni2.5-4v1_H_kgp8192050-0_B_R_1814468762fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/30/1307/29/15146Genomicunknown
ss783575257ILLUMINA|HumanOmniExpressExome-8v1_A_exm844046-0_B_R_1921069953fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/31/1306/18/15146Genomicunknown
ss825346614ILLUMINA|HumanCNV370v1_C_rs1057910-126_B_R_IFB1135520654:0fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc06/24/1311/21/14147Genomicunknown
ss834142053ILLUMINA|HumanOmni2.5-8v1_A_kgp8192050-0_B_R_1814468762fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc09/18/1307/29/15146Genomicunknown
ss974475598JMKIDD_LAB|KhoeSan_Exomes_chr10_96741053fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc03/06/1403/06/14142Genomicunknown
ss987806381EVA-GONL|EVA-GONL_rs1057910fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc04/23/1404/25/14142Genomicunknown
ss1067514968JMKIDD_LAB|HGDP_exomes_chr10_96741053fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc07/09/1407/09/14142Genomicunknown
ss1077216799JMKIDD_LAB|HGDP_WGS_chr10_96741053fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc07/10/1407/11/14142Genomicunknown
ss13386313961000GENOMES|PHASE3_V1_51334363fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc08/16/1408/16/14142Genomicunknown
ss1397589497HAMMER_LAB|HAMMER_LAB_rs1057910fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc09/30/1409/30/14146Genomicunknown
ss1584069489EVA_FINRISK|EVA_FINRISK_rs1057910fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc02/27/1502/27/15144Genomicunknown
ss1597479676EVA_DECODE|EVA_DECODE_10_96731043_735663_rs1057910fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc03/02/1503/04/15144Genomicunknown
ss1625199581EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_96741053_28349403fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc03/04/1503/04/15144Genomicunknown
ss1668193614EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_96741053_28349403fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc03/04/1503/04/15144Genomicunknown
ss1690012670EVA_EXAC|EVA_EXAC_5171697fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc03/04/1503/04/15144Genomicunknown
ss1711265826EVA_MGP|EVA_XIMO_381586fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc03/09/1503/09/15144Genomicunknown
ss1713202740EVA_SVP|EVA_SVP_897107fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc03/12/1503/12/15144Genomicunknown
ss1751988390ILLUMINA|OmniExpressExome-8v1-1_B_exm844046-0_B_R_1921069953fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/27/1506/09/15146Genomicunknown
ss1917849833ILLUMINA|HumanExome-12v1-1_B_exm844046-0_B_R_1921069953fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc10/16/1510/16/15147Genomicunknown
ss1931172559WEILL_CORNELL_DGM|SNV:chr10:96741053fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc10/16/1510/17/15147Genomicunknown
ss1946289814ILLUMINA|HumanCoreExome-12v1-0_C_exm844046-0_B_R_1921069953fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc10/29/1510/29/15147Genomicunknown
ss1959285055ILLUMINA|exm844046-0_B_R_1921069953fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc11/13/1511/13/15147Genomicunknown
ss1966651107AMU|chr10_96741053fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc01/29/1601/29/16147Genomicunknown
ss2026314474JJLAB|SNP6817029fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc08/29/1608/30/16149Genomicunknown
ss2094788887ILLUMINA|Immuno_BeadChip_11419691_B_rs1057910-131_B_R_1866528383fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc09/27/1609/27/16150Genomicunknown
ss2095016478ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs1057910-131_B_R_1866528383fwd/TA/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc09/27/1609/27/16150Genomicunknown
ss2154591212USC_VALOUEV|NC_000010.10:g.96741053A>Cfwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc11/17/1611/17/16151Genomicunknown
ss2177161303HUMAN_LONGEVITY|HLI-10-94981296-A-Cfwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc11/18/1611/18/16150Genomicunknown
ss2340277121TOPMED|10_96741053_A/Cfwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc11/19/1611/19/16150Genomicunknown
ss2632748535ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-kgp8192050-0_B_R_21311fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc02/02/1702/02/17151Genomicunknown
ss2632748536ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp8192050-0_B_R_181446876fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc02/02/1702/02/17151Genomicunknown
ss2632748537ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1057910-131_B_R_19678786fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc02/02/1702/02/17151Genomicunknown
ss2632748538ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs1057910-131_B_R_2130fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc02/02/1702/02/17151Genomicunknown
ss2635018036ILLUMINA|Cancer_BeadChip_11459870_A_rs1057910-128_B_R_1615264690fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc02/02/1702/02/17151Genomicunknown
ss2698844101GRF|rs1057910fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc02/13/1702/13/17151Genomicunknown
ss2710717613ILLUMINA|Consortium-OncoArray_15047405_A_rs1057910-131_B_R_1967878683fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc03/22/1703/22/17151Genomicunknown
ss2738421843GNOMAD|exomes_rs1057910fwd/A/C/Gtgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/17/1705/17/17151Genomicunknown
ss2748441781GNOMAD|coding_rs1057910fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/17/1705/17/17151Genomicunknown
ss2892149318GNOMAD|rs1057910fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/19/1705/19/17151Genomicunknown
ss2984920017AFFY|Axiom_PsorMich_Affx-3894210fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/24/1705/24/17151Genomicunknown
ss2985568284AFFY|Axiom_Smokesc1_Affx-3894210fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/24/1705/24/17151Genomicunknown
ss3006969228SWEGEN|NC_000010.10:g.96741053A>Cfwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc05/30/1705/30/17151Genomicunknown
ss3021264956ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm844046-0_B_R_1921069953fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc06/28/1706/28/17151Genomicunknown
ss3127568671TOPMED|TOPMed_freeze_5?chr10:94,981,296fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc09/29/1709/29/17151Genomicunknown
ss3349262052CSHL|rs1057910fwd/A/Ctgtggtgcacgaggtccagagatacttgaccttctccccaccagcctgcc10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1057910|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/C/G'|mol=Genomic|build=151
 TTGTTTTGTG GACTTCTCTT CCTTCTTTCA TTTCTTCCTG TCTTCCTTTA TTGAAGAGAA
 TTTTCTCCAC TTATATGTGT ACAGATTTTT CTTAATATCT GGTTTATGGC AGTTACACAT
 TTGTGCATCT GTAACCATCC TCTCTTTAAG TTTGCATATA CTTCCAGCAC TATAATTTAA
 ATTTATAATG ATGTTTGGAT ACCTTCATGA TTCATATACC CCTGAATTGC TACAACAAAT
 GTGCCATTTT TCTCCTTTTC CATCAGTTTT TACTTGTGTC TTATCAGCTA AAGTCCAGGA
 AGAGATTGAA CGTGTGATTG GCAGAAACCG GAGCCCCTGC ATGCAAGACA GGAGCCACAT
 GCCCTACACA GATGCTGTGG TGCACGAGGT CCAGAGATAC
 V
 TTGACCTTCT CCCCACCAGC CTGCCCCATG CAGTGACCTG TGACATTAAA TTCAGAAACT
 ATCTCATTCC CAAGGTAAGT TTGTTTCTCC TACACTGCAA CTCCATGTTT TCGAAGTCCC
 CAAATTCATA GTATCATTTT TAAACCTCTA CCATCACCGG GTGAGAGAAG TGCATAACTC
 ATATGTATGG CAGTTTAACT GGACTTTCTC TTGTTTCCAG TTTGGGGCTA TAAAGGTTTG
 TAACAGGTCC TAGTGTCTGG CAGTGTGTGT TCTCCAGATT TATTATCTTT CTTCAAGATT
 GGTTTGGCTA CTCTTAGGTG CTTATATTTC CAAATAATTT TTAAAGGTAT TAGTTTGTCA
 ATTTCCCAAA ACCTTGGGCT GGAATTTCTG GCAGGGTGAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_030059.8 Hs.167529
dbSNP Blast Analysis
UniGene Cluster ID
282624
3D structure mapping
NP_000762  
OMIM
601130.0001

  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
ss105107895PA152209538 184AF 0.918478250.08152174
ss105108091PA152211301 696AF 0.952586230.04741379
ss105109763PA154394460 584AF 0.938356160.06164384
ss12588583PDR90Global 176IG0.920454560.07954545 1.000000000.960227250.03977273
CEPH 184AF 1.00000000
ss1338631396EAS 1008AF 0.966300010.03370000
EUR 1006AF 0.927399990.07260000
AFR 1322AF 0.997699980.00230000
AMR 694AF 0.962499980.03750000
SAS 978AF 0.890599970.10940000
ss1690012670ExAc_Aggregated_Populations121410AF 0.936356130.06364385
ss235293156pilot_1_CEU_low_coverage_panel 120AF 0.941666660.05833333
ss241976260pilot_1_CHB+JPT_low_coverage_panel 120AF 0.958333310.04166667
ss342304169ESP_Cohort_Populations 4552GF0.913444640.084797890.001757471.000000000.955843570.04415641
ss491629979CSAgilent 1324GF0.877122820.117882100.004995000.751830000.936063950.06393606
ss5586419P1 200AF0.920000020.08000000 1.000000000.959999980.04000000
CAUC1 60AF0.800000010.20000000 1.000000000.899999980.10000000
AFR1 48AF1.00000000 1.00000000
HISP1 46AF0.956999960.04300000 1.000000000.977999990.02200000
PAC1 46AF0.956999960.04300000 1.000000000.977999990.02200000
ss66862440HSP_GENO_PANEL 54IG1.00000000 1.00000000
CEU_GENO_PANELEuropean 68IG0.882352950.11764706 1.000000000.941176470.05882353
AAM_GENO_PANELAfrican American 124IG0.983870980.01612903 1.000000000.991935490.00806452
CHB_GENO_PANELAsian 90IG0.911111120.08888889 1.000000000.955555560.04444445
YRI_GENO_PANELSub-Saharan African 120IG1.00000000 1.00000000
JPT_GENO_PANELAsian 24IG1.00000000 1.00000000
ss69088153HapMap-CEUEuropean 120IG0.883333330.11666667 1.000000000.941666660.05833333
HapMap-HCBAsian 90IG0.911111120.08888889 1.000000000.955555560.04444445
HapMap-JPTAsian 90IG0.933333340.06666667 1.000000000.966666640.03333334
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
ss69365624PA130443285 158AF 0.924050630.07594936
ss69366288PA130478249 464AF 0.965517220.03448276
ss69366432PA130491144 58AF 0.982758640.01724138
ss69367461PA130491273 20AF 0.899999980.10000000
ss76884483HapMap-CEUEuropean 226IG0.884955760.11504425 1.000000000.942477880.05752213
HapMap-HCBAsian 86IG0.906976760.09302326 1.000000000.953488350.04651163
HapMap-JPTAsian 172IG0.953488350.04651163 1.000000000.976744170.02325581
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
HAPMAP-ASW 98IG0.959183690.04081633 1.000000000.979591850.02040816
HAPMAP-CHBAsian 82IG0.878048780.12195122 1.000000000.939024390.06097561
HAPMAP-CHD 170IG0.894117650.10588235 1.000000000.947058800.05294118
HAPMAP-GIH 176IG0.738636370.26136363 0.527089000.869318190.13068181
HAPMAP-MEX 100IG0.899999980.10000000 1.000000000.949999990.05000000
HAPMAP-TSI 176IG0.875000000.12500000 1.000000000.937500000.06250000
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss84158157PA149566605 356AF 0.952247200.04775281

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.119+/-0.2130000ALFRED: 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
byClusterbyFreqwithHapMapFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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