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Reference SNP (refSNP) Cluster Report: rs1800206                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/150
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwithHapMapFreqWith1000GenomeData
Citation:PubMed
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:C:germline
G:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:G=0.0425/5155 (ExAC)
G=0.0228/114 (1000 Genomes)
G=0.0456/593 (GO-ESP)
G=0.0405/1180 (TOPMED)
HGVS Names
  • NC_000022.10:g.46614274C>G
  • NC_000022.11:g.46218377C>G
  • NG_012204.1:g.72776C>G
  • NM_001001928.2:c.484C>G
  • NM_005036.4:c.484C>G
  • NP_001001928.1:p.Leu162Val
  • NP_005027.2:p.Leu162Val
  • XM_005261653.1:c.484C>G
  • XM_005261654.1:c.484C>G
  • XM_005261655.1:c.484C>G
  • XM_005261655.3:c.484C>G
  • XM_005261656.1:c.484C>G
  • XM_005261656.3:c.484C>G
  • XM_005261657.1:c.484C>G
  • XM_005261658.1:c.484C>G
  • XM_006724269.3:c.484C>G
  • XM_006724270.3:c.484C>G
  • XM_011530239.2:c.484C>G
  • XM_011530240.2:c.484C>G
  • XM_011530241.2:c.484C>G
  • XM_011530242.2:c.484C>G
  • XM_011530243.2:c.484C>G
  • XM_011530244.2:c.78C>G
  • XM_011530245.2:c.78C>G
  • XM_017028839.1:c.78C>G
  • XM_017028840.1:c.78C>G
  • XP_005261710.1:p.Leu162Val
  • XP_005261711.1:p.Leu162Val
  • XP_005261712.1:p.Leu162Val
  • XP_005261713.1:p.Leu162Val
  • XP_005261714.1:p.Leu162Val
  • XP_005261715.1:p.Leu162Val
  • XP_006724332.1:p.Leu162Val
  • XP_006724333.1:p.Leu162Val
  • XP_011528541.1:p.Leu162Val
  • XP_011528542.1:p.Leu162Val
  • XP_011528543.1:p.Leu162Val
  • XP_011528544.1:p.Leu162Val
  • XP_011528545.1:p.Leu162Val
  • XP_011528546.1:p.Ala26=
  • XP_011528547.1:p.Ala26=
  • XP_016884328.1:p.Ala26=
  • XP_016884329.1:p.Ala26=
  • XR_001755253.1:n.802C>G
  • XR_244379.1:n.707C>G
  • XR_937869.2:n.802C>G
  • XR_937870.2:n.802C>G
Links
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 ss48402215 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1800206 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
ss2420272HGBASE|SNP000002896fwd/BC/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg11/07/0010/10/0389Genomicunknown
ss5609875PGA-UW-FHCRC|PPARA-067581fwd/BC/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt01/10/0301/23/04114Genomicunknown
ss8819830SNP500CANCER|PPARA-06byFreqfwd/BC/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt05/30/0307/21/06116Genomicunknown
ss23144275PARC|PPARA-067581fwd/BC/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt05/17/0405/18/04126Genomicunknown
ss48402215APPLERA_GI|hCV8817670byFreqfwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt09/28/0511/03/06126Genomicunknown
ss69270721PERLEGEN|PGP04774212byFreqfwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt01/30/0708/14/07127Genomicunknown
ss74889102ILLUMINA|ILMN_Human_1M_rs1800206fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt08/28/0708/29/07129Genomicunknown
ss84167748PHARMGKB_AB_DME|PS206069_PA149847708_301byFreqfwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt12/06/0709/05/14130Genomicunknown
ss86345333CANCER-GENOME|17472fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt01/25/0801/25/08129Genomicunknown
ss91943090BCMHGSC_JDW|JWB-1535422fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt02/26/0803/02/08129Genomicunknown
ss138366331ENSEMBL|ENSSNP11938490fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt05/15/0905/17/09131Genomicunknown
ss153736273ILLUMINA|Human610_Quadv1_B_rs1800206-128_B_F_1513892796fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt06/18/0906/19/09131Genomicunknown
ss159329722ILLUMINA|Human660W-Quad_v1_A_rs1800206-128_B_F_1513892796fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt07/06/0907/07/09131Genomicunknown
ss169708902OMICIA|2009_August_001_075_PPARA_170998_0001fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt10/01/0908/28/12137Genomicunknown
ss172924511ILLUMINA|Human1M-Duov3_B_rs1800206-128_B_F_1513892796fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt10/01/0910/02/09132Genomicunknown
ss2380958611000GENOMES|pilot_1_CEU_7700490_chr22_44992938fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt05/01/1005/01/10132Genomicunknown
ss244284997ILLUMINA|CVDSNP55v1_A_rs1800206fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt06/10/1006/10/10132Genomicunknown
ss256302373OMIM-CURATED-RECORDS|4608fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt08/26/1008/26/10132Genomicunknown
ss292775289PJP|SNP_2281647_chr22_44992938fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt01/21/1101/21/11134Genomicunknown
ss342546107NHLBI-ESP|ESP2500-chr22-46614274byFreqfwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt03/25/1109/05/14134Genomicunknown
ss4911954541000GENOMES|20110521_exome_703252_chr22_46614274fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt02/10/1202/22/12137Genomicunknown
ss491573274EXOME_CHIP|nonsyn_289500_chr_22_46614274fwd/C/Gaaatgccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacggtaggt03/05/1203/06/12137Genomicunknown
ss491826731CLINSEQ_SNP|SNV-chr22-44992938byFreqfwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg03/06/1209/05/14137Genomicunknown
ss536285735ILLUMINA|HumanOmni5-4v1_B_kgp8465547-0_B_F_1903235806fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg06/22/1208/29/15146Genomicunknown
ss662620348SSMP|22_46614274fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg12/14/1202/14/15138Genomicunknown
ss832841731ILLUMINA|Human660W-Quad_v1_C_rs1800206-131_B_F_1858938316fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg09/18/1307/02/15142Genomicunknown
ss833432561ILLUMINA|Human660W-Quad_v1_H_rs1800206-131_B_F_1858938316fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg09/18/1307/02/15142Genomicunknown
ss995430336EVA-GONL|EVA-GONL_rs1800206fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg04/23/1405/01/14142Genomicunknown
ss13674727381000GENOMES|PHASE3_V1_81377330fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg08/16/1408/16/14142Genomicunknown
ss1579781466EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1800206fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg02/19/1502/20/15144Genomicunknown
ss1584128703EVA_FINRISK|EVA_FINRISK_rs1800206fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg02/27/1502/27/15144Genomicunknown
ss1640154866EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_22_46614274_44825854fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg03/04/1503/04/15144Genomicunknown
ss1683148899EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_22_46614274_44825854fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg03/04/1503/04/15144Genomicunknown
ss1694401666EVA_EXAC|EVA_EXAC_9894950fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg03/04/1503/04/15144Genomicunknown
ss1699501728EVA_DECODE|EVA_DECODE_22_44992938_234023_rs1800206fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg03/02/1503/05/15144Genomicunknown
ss1711573474EVA_MGP|EVA_XIMO_689234fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg03/09/1503/09/15144Genomicunknown
ss1939001071WEILL_CORNELL_DGM|SNV:chr22:46614274fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg10/16/1510/19/15147Genomicunknown
ss1946598828ILLUMINA|HumanCoreExome-12v1-0_C_kgp8465547-0_B_F_1903235806fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg10/29/1510/29/15147Genomicunknown
ss1959988267ILLUMINA|kgp8465547-0_B_F_1903235806fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg11/13/1511/13/15147Genomicunknown
ss2030272889JJLAB|SNP10775444fwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg08/29/1608/31/16149Genomicunknown
ss2158895847USC_VALOUEV|NC_000022.10:g.46614274C>Gfwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg11/17/1611/17/16150Genomicunknown
ss2247958625HUMAN_LONGEVITY|HLI-22-46218377-C-Gfwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg11/18/1611/18/16150Genomicunknown
ss2414969232TOPMED|22_46614274_C/Gfwd/C/Gccagtattgtcgatttcacaagtgctttctgtcgggatgtcacacaacgg11/19/1611/19/16150Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1800206|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=150
 CGCCTCAGCC TCCTAAAGTG CTGGGATTAC AGGCATGATC ACCATGCCTG GCCTGGAATA
 ACTTTTCTCT AAATTTTGTT CATTTAAAAA GAAACAATAA ATGAGCAACA AAAAAGGTGA
 GTAAAGCAAG TGCGCTGGTT TCTCAGTGGC CCAGGTCTTT AAATCCACTG TGTATTACCC
 TCACAGGGCT TCTTTCGGCG AACGATTCGA CTCAAGCTGG TGTATGACAA GTGCGACCGC
 AGCTGCAAGA TCCAGAAAAA GAACAGAAAC AAATGCCAGT ATTGTCGATT TCACAAGTGC
 S
 TTTCTGTCGG GATGTCACAC AACGGTAGGT AAGGTGGCCC TGCACATTTT CCCAGTTCGT
 TCCTCAGTTC CCCTTCCTTG CTCCAAGGGA ACAGATCAAG CTATGGATGA ATGTGCTTCA
 ACATTTCACA CCCAAGTCAT TTTGTAATCA GAGTGGCCTA AGAAAATAAA AGTCGCCCAG
 GCGCGGTGGT TCACGCCTGT AATCCCAGCA CTTTGGGAGG CTGAGGTGGG TGGATCACCT
 CAGGTCAGGA GTTTGAGACC AGCCTGGCCA ATATGGTGAA ACCCCGTCTC TACTAAGAAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
Z79997
dbSNP Blast Analysis
OMIM
170998.0001

  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.
SourceC/C
C/G
G/G
HWPC
G
ss1367472738EAS 1008AF 1.00000000
EUR 1006AF 0.941399990.05860000
AFR 1322AF 0.994700010.00530000
AMR 694AF 0.965400040.03460000
SAS 978AF 0.975499990.02450000
ss138366331ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss1694401666ExAc_Aggregated_Populations121412AF 0.957541290.04245874
ss23144275PARC-EUROPEAN-PANELEuropean 46IG0.956521750.04347826 1.000000000.978260870.02173913
ss238095861pilot_1_CEU_low_coverage_panel 120AF 0.966666640.03333334
ss342546107ESP_Cohort_Populations 4552GF0.920474530.076889280.002636200.254213000.958919170.04108084
ss48402215HapMap-CEUEuropean 120IG0.916666690.08333334 1.000000000.958333310.04166667
HapMap-HCBAsian 90IG1.00000000 1.00000000
HapMap-JPTAsian 88IG1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
AGI_ASP populationmultiple 78IG0.948717950.05128205 1.000000000.974358980.02564103
ss491826731CSAgilent 1324GF0.883116900.114885120.001998000.527089000.940559450.05944056
ss5609875PGA-AFRICAN-PANELAfrican American 48IG1.00000000 1.00000000
PGA-EUROPEAN-PANELEuropean 46IG0.956521750.04347826 1.000000000.978260870.02173913
CEPH 184AF 1.00000000
ss84167748PA149847709 358AF 0.991620120.00837989
ss8819830P1 202AF0.970000030.03000000 1.000000000.985000010.01500000
CAUC1 62AF0.935000000.06500001 1.000000000.967999990.03200000
AFR1 48AF0.958000000.04200000 1.000000000.979000030.02100000
HISP1 44AF1.00000000 1.00000000
PAC1 48AF1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.081+/-0.185596474230

  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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