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Reference SNP (refSNP) Cluster Report: rs1800497                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:C:germline
T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:A=0.2759/30556 (ExAC)
A=0.3257/1631 (1000 Genomes)
A=0.2354/2949 (GO-ESP)
A=0.2710/34030 (TOPMED)
HGVS Names
  • CM000673.2:g.113400106G>A
  • NC_000011.10:g.113400106G>A
  • NC_000011.9:g.113270828G>A
  • NG_012976.1:g.17316G>A
  • NM_178510.1:c.2137G>A
  • NP_848605.1:p.Glu713Lys
  • XP_011541038.1:p.Glu724Lys
  • XP_011541039.1:p.Glu714Lys
  • XP_011541040.1:p.Glu650Lys
  • XP_016872964.1:p.Glu723Lys
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 ss281176532 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1800497 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
ss2420597HGBASE|SNP000003286fwd/BC/Ttggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtg11/07/0010/10/0389Genomicunknown
ss5586480SNP500CANCER|ANKK1-01byFreqfwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc09/26/0204/12/05116Genomicunknown
ss6312581KIDDLAB|SI000144JbyFreqfwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc01/17/0310/10/03113GenomicTunknown
ss6826700WI_SSAHASNP|NT_033899.3_2809187byFreqrev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg02/12/0310/21/04113Genomicunknown
ss15908242SC_SNP|NT_033899.6_16814614rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg11/17/0311/22/03120Genomicunknown
ss24101885PERLEGEN|afd1752327byFreqrev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg08/10/0409/13/04123Genomicunknown
ss65730830ILLUMINA|Human1-rs1800497fwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc10/10/0610/10/06127Genomicunknown
ss66577871ILLUMINA|HumanHap300v1.1_rs1800497fwd/TC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc11/09/0611/09/06127Genomicunknown
ss67197003ILLUMINA|HumanHap550v1.1_rs1800497fwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc11/14/0611/14/06127Genomicunknown
ss67585954ILLUMINA|HumanHap650Yv1.0_rs1800497fwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc11/14/0611/14/06127Genomicunknown
ss69329205PERLEGEN|PGP01752327byFreqrev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg01/30/0708/14/07127Genomicunknown
ss69359384RSG_JCVI|ANKK1-015315_015316-A_GbyFreqrev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg03/21/0708/14/07127Genomicunknown
ss70675215ILLUMINA|HumanHap550v3.0__rs1800497rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg04/20/0703/30/08130Genomicunknown
ss71238225ILLUMINA|HumanHap650Yv3.0_rs1800497fwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc04/23/0704/23/07127Genomicunknown
ss74802346CANCER-GENOME|3600rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg07/20/0707/20/07129Genomicunknown
ss74957775ILLUMINA|ILMN_Human_1M_rs1800497fwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc08/28/0708/29/07129Genomicunknown
ss76886889SI_EXO|NT_033899.7_16833244byFreqrev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg09/20/0709/05/14129Genomicunknown
ss79094223ILLUMINA|HumanHap300v2.0_rs1800497fwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc04/18/0711/18/07130Genomicunknown
ss83877441KRIBB_YJKIM|KHS563044fwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc12/04/0712/06/07130Genomicunknown
ss88801118BCMHGSC_JDW|JWB-0482999rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg02/26/0802/28/08129Genomicunknown
ss103002112BGI|BGI_rs1800497rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg06/05/0810/20/09131Genomicunknown
ss1111004651000GENOMES|CEU.trio.12.15.2008_2627596_chr11_112776038rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg12/17/0812/17/08130Genomicunknown
ss121814140ILLUMINA|HumanCNV370v1_C_rs1800497fwd/BC/Tcatcctggacgtccagctgggcgcctgcctgaccagcactttgaggatggctgtgttgcc04/14/0904/14/09131Genomicunknown
ss132838621ENSEMBL|ENSSNP6783741rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg05/11/0905/14/09131Genomicunknown
ss153736377ILLUMINA|Human610_Quadv1_B_rs1800497-128_T_R_1501680929rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg06/18/0906/19/09131Genomicunknown
ss159329743ILLUMINA|Human660W-Quad_v1_A_rs1800497-128_T_R_1501680929rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg07/06/0907/07/09131Genomicunknown
ss170815425ILLUMINA|HumanCNV370-Quadv3_C_rs1800497-128_T_R_1501680929rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg10/01/0910/03/09132Genomicunknown
ss172924778ILLUMINA|Human1M-Duov3_B_rs1800497-128_T_R_1501680929rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg10/01/0910/02/09132Genomicunknown
ss203227903BUSHMAN|BUSHMAN-chr11-112776037rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg02/16/1003/09/10132Genomicunknown
ss2254695621000GENOMES|pilot_1_YRI_7279245_chr11_112776038rev/A/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg04/22/1004/22/10132Genomicunknown
ss2357247421000GENOMES|pilot_1_CEU_5329371_chr11_112776038rev/A/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg05/01/1005/01/10132Genomicunknown
ss2423218331000GENOMES|pilot_1_CHB+JPT_4206910_chr11_112776038rev/A/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg05/01/1005/01/10132Genomicunknown
ss244238897OMICIA|2010_April_001_011_ANKK1_608774_0001rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg05/27/1005/28/10132Genomicunknown
ss256301920OMIM-CURATED-RECORDS|15924rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg08/25/1008/25/10132Genomicunknown
ss281176532GMI|GMI_AK_SNP_5496921rev/A/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg12/16/1012/16/10137Genomicunknown
ss286460473GMI|GMI_NA10851_SNP_2473262rev/A/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg12/17/1012/17/10138Genomicunknown
ss291142824PJP|SNP_649182_chr11_112776038rev/A/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg01/21/1101/21/11134Genomicunknown
ss4910294121000GENOMES|20110521_exome_537210_chr11_113270828rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg02/10/1202/22/12137Genomicunknown
ss491459270EXOME_CHIP|nonsyn_175496_chr_11_113270828rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg03/05/1203/05/12137Genomicunknown
ss491654180CLINSEQ_SNP|SNV-chr11-112776038byFreqrev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/06/1209/05/14137Genomicunknown
ss536418635ILLUMINA|HumanOmni5-4v1_B_kgp9213781-0_B_R_1797888037rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca06/22/1208/29/15146Genomicunknown
ss562835308TISHKOFF|snp_chr11_113270828rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca11/22/1211/23/12138Genomicunknown
ss658358351SSMP|11_113270828rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca12/14/1202/13/15138Genomicunknown
ss713049528NHLBI-ESP|ESP6500SI-chr11-113270828rev/TA/Gggcaacacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtccaggatg02/20/1302/20/13138Genomicunknown
ss783591418ILLUMINA|HumanOmniExpressExome-8v1_A_exm956373-0_T_F_1918390565rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca05/31/1306/18/15146Genomicunknown
ss825424741ILLUMINA|HumanCNV370v1_C_rs1800497-123_T_R_IFB1135098374:0rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca06/24/1311/21/14144Genomicunknown
ss832841752ILLUMINA|Human660W-Quad_v1_C_rs1800497-131_T_R_1852934590rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca09/18/1307/02/15142Genomicunknown
ss833432582ILLUMINA|Human660W-Quad_v1_H_rs1800497-131_T_R_1852934590rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca09/18/1307/02/15142Genomicunknown
ss974481186JMKIDD_LAB|KhoeSan_Exomes_chr11_113270828rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/06/1403/06/14142Genomicunknown
ss988978248EVA-GONL|EVA-GONL_rs1800497rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca04/23/1404/25/14142Genomicunknown
ss1067528205JMKIDD_LAB|HGDP_exomes_chr11_113270828rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca07/09/1407/09/14142Genomicunknown
ss1078056467JMKIDD_LAB|HGDP_WGS_chr11_113270828rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca07/10/1407/12/14142Genomicunknown
ss13430242411000GENOMES|PHASE3_V1_55904080rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca08/16/1408/16/14142Genomicunknown
ss1426765523DDI|DDI_rs1800497rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca11/04/1411/04/14144Genomicunknown
ss1575961511EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1800497rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca02/19/1502/19/15144Genomicunknown
ss1584078065EVA_FINRISK|EVA_FINRISK_rs1800497rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca02/27/1502/27/15144Genomicunknown
ss1598644247EVA_DECODE|EVA_DECODE_11_112776038_854047_rs1800497rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/02/1503/04/15144Genomicunknown
ss1627494158EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_11_113270828_30866624rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/04/1503/04/15144Genomicunknown
ss1670488191EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_11_113270828_30866624rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/04/1503/04/15144Genomicunknown
ss1690636946EVA_EXAC|EVA_EXAC_5842669rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/04/1503/04/15144Genomicunknown
ss1711309105EVA_MGP|EVA_XIMO_424865rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/09/1503/09/15144Genomicunknown
ss1713285855EVA_SVP|EVA_SVP_980222rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/12/1503/12/15144Genomicunknown
ss1713988439MGLAB_FHMS_UPM|c.2137C>T_ANKK1rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/25/1503/25/15146Genomicunknown
ss1751995127ILLUMINA|OmniExpressExome-8v1-1_B_exm956373-0_T_F_1918390565rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca05/27/1506/09/15146Genomicunknown
ss1807003618HAMMER_LAB|Hsieh_6023958rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca07/15/1507/16/15146Genomicunknown
ss1917866588ILLUMINA|HumanExome-12v1-1_B_exm956373-0_T_F_1918390565rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca10/16/1510/16/15147Genomicunknown
ss1932339395WEILL_CORNELL_DGM|SNV:chr11:113270828rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca10/16/1510/17/15147Genomicunknown
ss1946323044ILLUMINA|HumanCoreExome-12v1-0_C_exm956373-0_T_F_1918390565rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca10/29/1510/29/15147Genomicunknown
ss1959386568ILLUMINA|exm956373-0_T_F_1918390565rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca11/13/1511/13/15147Genomicunknown
ss2026913593JJLAB|SNP7416148rev/TA/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca08/29/1608/30/16149Genomicunknown
ss2155226133USC_VALOUEV|NC_000011.9:g.113270828G>Arev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca11/17/1611/17/16150Genomicunknown
ss2185828636HUMAN_LONGEVITY|HLI-11-113400106-G-Arev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca11/18/1611/18/16150Genomicunknown
ss2349419112TOPMED|11_113270828_G/Arev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca11/19/1611/19/16150Genomicunknown
ss2627931627SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4709920rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca01/06/1701/06/17151Genomicunknown
ss2635030576ILLUMINA|Cancer_BeadChip_11459870_A_rs1800497-128_T_R_1616887036rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca02/02/1702/02/17151Genomicunknown
ss2699536289GRF|rs1800497rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca02/13/1702/13/17151Genomicunknown
ss2710746402ILLUMINA|Consortium-OncoArray_15047405_A_chr11_113270828_A_G-100_T_F_2198rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/22/1703/22/17151Genomicunknown
ss2710746403ILLUMINA|Consortium-OncoArray_15047405_A_rs1800497-131_T_R_1908736955rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca03/22/1703/22/17151Genomicunknown
ss2739395011GNOMAD|exomes_rs1800497rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca05/17/1705/17/17151Genomicunknown
ss2748741613GNOMAD|coding_rs1800497rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca05/17/1705/17/17151Genomicunknown
ss2904623316GNOMAD|rs1800497rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca05/22/1705/22/17151Genomicunknown
ss2984957612AFFY|Axiom_PsorMich_Affx-4235160rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca05/24/1705/24/17151Genomicunknown
ss2985599017AFFY|Axiom_Smokesc1_Affx-4235160rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca05/24/1705/24/17151Genomicunknown
ss3008803499SWEGEN|NC_000011.9:g.113270828G>Arev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca05/30/1705/30/17151Genomicunknown
ss3021377277ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm956373-0_T_F_1918390565rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca06/28/1706/28/17151Genomicunknown
ss3027257465BIOINF_KMB_FNS_UNIBA|11.113400106G>Arev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca07/05/1707/05/17151Genomicunknown
ss3156775350TOPMED|TOPMed_freeze_5?chr11:113,400,106rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca09/30/1709/30/17151Genomicunknown
ss3349801555CSHL|rs1800497rev/A/Gcacagccatcctcaaagtgctggtcaggcaggcgcccagctggacgtcca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1800497|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TCCAGGCGAG AGGCCCCAAG TAGTCTAAAT TTCTTTCTTT CTTTCTTTTT TATATGGAGT
 CTCGCTCTGT TGCCCAGGCT GGAGTGCAGT GGTGCGATCT CGGCTCACTG CAACCTCTGC
 CTCCTGGGTT CAAGGAATTC TCCTGCCTCA GCCTCCCTGG TAGTTGGGAT TACAGGCACG
 TGCCACCATA CCCAGCTAAA TTTTGTATTT TTAGCAGAGA CAGGGTTTTG CCATGTTGGC
 CAGGCTGGCC TCAAACTCTT GATATCAGGT GATCTGCCTG CCTCAGCCTC CCAAAGTGCT
 GGGATTACAG ACGTGAGCCA CCACGGCTGG CCAAGTTGTC TAAATTTCCA TCTCGGCTCC
 TGGCTTAGAA CCACCCAGAG TGGCCACTGA CGGCTCCTTG CCCTCTAGGA AGGACATGAT
 GCCCTGCTTT CGGCTGCGGA GGGCCAGTTG CAGGGGTGTG CAGCTCACTC CATCCTGGAC
 GTCCAGCTGG GCGCCTGCCT
 Y
 GACCAGCACT TTGAGGATGG CTGTGTTGCC CTTGAGGGCG GCCAGGTGGG CGGGTGTCCA
 GCCCACCTTG TTGCGGGCGT GGACATTTGC GTGATGTTCT AGGAGGTTGA TGACACTCAG
 GAAGGTGCTC CTCTGGACCG CCAGGTGGAG GGGTGTCCAG CCTGACTGCT CTGCAGCATT
 GGGGTCAGCC CCACACTGCA GCAGTGCTGA CACCACCGCC TCCTCCCCGT GGCGTGCAGC
 TAGGTGCAGG GGAGTCCAGT TCACAGCTCC AAGAGCACCC ATGTTTGCGT GGCTCTCTGC
 CAGCAGATGG ATGATCTCCA GGTGGCCCTT GTAGGCTGCT AGATGCAGGG GTGTCCAGCC
 CTGGTGGGTG GGCAGCTCAA GGCTGGCTCC GTACCTGAGC AGCATCTTGC AGATCAGGTA
 TTTGCCCCTG GCAGCTGCAG TGTGCAGTGG GCCGTAGCCG CTCTGGTCAA GGGCATCAGG
 GACCGCTCCA CTCTTCAGCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_033899.7
dbSNP Blast Analysis
UniGene Cluster ID
448473
3D structure mapping
NP_848605  
OMIM
608774.0001

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1800497 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
ss132838621ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss1343024241EAS 1008AF 0.594200020.40579998
EUR 1006AF 0.812099990.18790001
AFR 1322AF 0.615000010.38499999
AMR 694AF 0.688799980.31119999
SAS 978AF 0.685099960.31490001
ss1690636946ExAc_Aggregated_Populations120928AF 0.743566390.25643358
ss225469562pilot_1_YRI_low_coverage_panel 118AF 0.550847470.44915253
ss235724742pilot_1_CEU_low_coverage_panel 120AF 0.808333340.19166666
ss24101885AFD_EUR_PANELEuropean 48IG0.791666690.20833333 1.000000000.895833310.10416666
AFD_AFR_PANELAfrican American 46IG0.478260870.478260870.043478260.402784000.717391310.28260869
AFD_CHN_PANELAsian 46IG0.260869560.478260870.260869561.000000000.500000000.50000000
ss242321833pilot_1_CHB+JPT_low_coverage_panel 120AF 0.533333360.46666667
ss491654180CSAgilent 563GF0.694999990.280000000.025000001.000000000.834999980.16499999
ss5586480P1 200AF0.540000020.419999990.040000000.250592000.750000000.25000000
CAUC1 60AF0.732999980.26699999 0.402784000.866999980.13300000
AFR1 48AF0.542000000.375000000.083000001.000000000.728999970.27100000
HISP1 46AF0.435000030.477999990.087000000.751830000.674000020.32600001
PAC1 46AF0.391000000.60900003 0.050043000.695999980.30399999
ss6312581PO000020C 184AF 0.809999940.19000000
ss69359384R12_ISDP2 40AF 0.649999980.34999999
ss76886889HapMap-CEUEuropean 226IG0.663716790.283185840.053097340.317310000.805309710.19469027
HapMap-HCBAsian 86IG0.232558150.558139560.209302320.479500000.511627910.48837209
HapMap-JPTAsian 172IG0.348837200.488372090.162790701.000000000.593023240.40697673
HapMap-YRISub-Saharan African 224IG0.339285700.500000000.160714280.751830000.589285730.41071430
HAPMAP-ASW 98IG0.367346940.469387770.163265301.000000000.602040830.39795917
HAPMAP-CHBAsian 82IG0.487804890.317073170.195121940.050043000.646341440.35365853
HAPMAP-CHD 168IG0.309523820.500000000.190476191.000000000.559523820.44047618
HAPMAP-GIH 176IG0.556818190.340909090.102272730.200325000.727272750.27272728
HAPMAP-LWK 178IG0.393258420.483146070.123595510.751830000.634831490.36516854
HAPMAP-MEX 98IG0.306122450.571428600.122448980.250592000.591836750.40816328
HAPMAP-MKK 286IG0.405594410.475524490.118881120.751830000.643356620.35664335
HAPMAP-TSI 174IG0.632183910.321839090.045977011.000000000.793103460.20689656
ENSEMBL_Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.400+/-0.2000000ALFRED: 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: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNYES

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