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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1800206

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr22:46218377 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.043606 (11542/264690, TOPMED)
G=0.043433 (10923/251492, GnomAD_exome)
G=0.042896 (6013/140176, GnomAD) (+ 20 more)
G=0.042459 (5155/121410, ExAC)
G=0.02860 (2251/78696, PAGE_STUDY)
G=0.05687 (2930/51524, ALFA)
G=0.00012 (2/16760, 8.3KJPN)
G=0.0228 (114/5008, 1000G)
G=0.0395 (177/4480, Estonian)
G=0.0693 (267/3854, ALSPAC)
G=0.0680 (252/3708, TWINSUK)
G=0.0005 (1/1832, Korea1K)
G=0.066 (66/998, GoNL)
G=0.032 (19/600, NorthernSweden)
G=0.086 (46/534, MGP)
G=0.008 (3/358, PharmGKB)
G=0.015 (5/328, HapMap)
G=0.036 (11/304, FINRISK)
G=0.032 (7/216, Qatari)
G=0.03 (1/40, GENOME_DK)
C=0.2 (2/8, SGDP_PRJ)
C=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PPARA : Missense Variant
Publications
44 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 22 NC_000022.11:g.46218377C>G
GRCh37.p13 chr 22 NC_000022.10:g.46614274C>G
PPARA RefSeqGene NG_012204.2:g.72844C>G
Gene: PPARA, peroxisome proliferator activated receptor alpha (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PPARA transcript variant 8 NM_001362872.2:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform 1 NP_001349801.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant 5 NM_005036.6:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform 1 NP_005027.2:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant 3 NM_001001928.4:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform 1 NP_001001928.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant 9 NM_001362873.2:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform 1 NP_001349802.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant X1 XM_011530239.2:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528541.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant X4 XM_011530240.2:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528542.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant X5 XM_011530241.2:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528543.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant X6 XM_011530242.2:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528544.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant X7 XM_006724270.3:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X1 XP_006724333.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant X8 XM_005261656.3:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X1 XP_005261713.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant X9 XM_011530243.2:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528545.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant X11 XM_011530244.2:c.78C>G A [GCC] > A [GCG] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X2 XP_011528546.1:p.Ala26= A (Ala) > A (Ala) Synonymous Variant
PPARA transcript variant X12 XM_011530245.2:c.78C>G A [GCC] > A [GCG] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X2 XP_011528547.1:p.Ala26= A (Ala) > A (Ala) Synonymous Variant
PPARA transcript variant X13 XM_017028839.1:c.78C>G A [GCC] > A [GCG] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X2 XP_016884328.1:p.Ala26= A (Ala) > A (Ala) Synonymous Variant
PPARA transcript variant X10 XM_024452252.1:c.78C>G A [GCC] > A [GCG] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X2 XP_024308020.1:p.Ala26= A (Ala) > A (Ala) Synonymous Variant
PPARA transcript variant X14 XM_024452253.1:c.78C>G A [GCC] > A [GCG] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha isoform X3 XP_024308021.1:p.Ala26= A (Ala) > A (Ala) Synonymous Variant
PPARA transcript variant X15 XR_937869.2:n.802C>G N/A Non Coding Transcript Variant
PPARA transcript variant X16 XR_001755253.1:n.802C>G N/A Non Coding Transcript Variant
PPARA transcript variant X17 XR_937870.2:n.802C>G N/A Non Coding Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 28740 )
ClinVar Accession Disease Names Clinical Significance
RCV000014700.3 Hyperapobetalipoproteinemia, susceptibility to Risk-Factor

ALFA Allele Frequency (New)
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 51524 C=0.94313 G=0.05687
European Sub 39450 C=0.93878 G=0.06122
African Sub 3574 C=0.9852 G=0.0148
African Others Sub 122 C=1.000 G=0.000
African American Sub 3452 C=0.9846 G=0.0154
Asian Sub 168 C=1.000 G=0.000
East Asian Sub 112 C=1.000 G=0.000
Other Asian Sub 56 C=1.00 G=0.00
Latin American 1 Sub 500 C=0.968 G=0.032
Latin American 2 Sub 628 C=0.951 G=0.049
South Asian Sub 98 C=0.96 G=0.04
Other Sub 7106 C=0.9422 G=0.0578


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.956394 G=0.043606
gnomAD - Exomes Global Study-wide 251492 C=0.956567 G=0.043433
gnomAD - Exomes European Sub 135414 C=0.942185 G=0.057815
gnomAD - Exomes Asian Sub 49010 C=0.98468 G=0.01532
gnomAD - Exomes American Sub 34592 C=0.95982 G=0.04018
gnomAD - Exomes African Sub 16256 C=0.98954 G=0.01046
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=0.95714 G=0.04286
gnomAD - Exomes Other Sub 6140 C=0.9428 G=0.0572
gnomAD - Genomes Global Study-wide 140176 C=0.957104 G=0.042896
gnomAD - Genomes European Sub 75924 C=0.94057 G=0.05943
gnomAD - Genomes African Sub 42014 C=0.98717 G=0.01283
gnomAD - Genomes American Sub 13636 C=0.94771 G=0.05229
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.9611 G=0.0389
gnomAD - Genomes East Asian Sub 3132 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2152 C=0.9442 G=0.0558
ExAC Global Study-wide 121410 C=0.957541 G=0.042459
ExAC Europe Sub 73352 C=0.94307 G=0.05693
ExAC Asian Sub 25166 C=0.98454 G=0.01546
ExAC American Sub 11578 C=0.96338 G=0.03662
ExAC African Sub 10406 C=0.98751 G=0.01249
ExAC Other Sub 908 C=0.960 G=0.040
The PAGE Study Global Study-wide 78696 C=0.97140 G=0.02860
The PAGE Study AfricanAmerican Sub 32514 C=0.98644 G=0.01356
The PAGE Study Mexican Sub 10810 C=0.95190 G=0.04810
The PAGE Study Asian Sub 8316 C=0.9996 G=0.0004
The PAGE Study PuertoRican Sub 7916 C=0.9395 G=0.0605
The PAGE Study NativeHawaiian Sub 4534 C=0.9777 G=0.0223
The PAGE Study Cuban Sub 4230 C=0.9277 G=0.0723
The PAGE Study Dominican Sub 3828 C=0.9632 G=0.0368
The PAGE Study CentralAmerican Sub 2450 C=0.9682 G=0.0318
The PAGE Study SouthAmerican Sub 1982 C=0.9581 G=0.0419
The PAGE Study NativeAmerican Sub 1260 C=0.9389 G=0.0611
The PAGE Study SouthAsian Sub 856 C=0.974 G=0.026
8.3KJPN JAPANESE Study-wide 16760 C=0.99988 G=0.00012
1000Genomes Global Study-wide 5008 C=0.9772 G=0.0228
1000Genomes African Sub 1322 C=0.9947 G=0.0053
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=0.9414 G=0.0586
1000Genomes South Asian Sub 978 C=0.975 G=0.025
1000Genomes American Sub 694 C=0.965 G=0.035
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9605 G=0.0395
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9307 G=0.0693
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9320 G=0.0680
Korean Genome Project KOREAN Study-wide 1832 C=0.9995 G=0.0005
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.934 G=0.066
Northern Sweden ACPOP Study-wide 600 C=0.968 G=0.032
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.914 G=0.086
PharmGKB Aggregated Global Study-wide 358 C=0.992 G=0.008
PharmGKB Aggregated PA149847709 Sub 358 C=0.992 G=0.008
HapMap Global Study-wide 328 C=0.985 G=0.015
HapMap African Sub 120 C=1.000 G=0.000
HapMap American Sub 120 C=0.958 G=0.042
HapMap Asian Sub 88 C=1.00 G=0.00
FINRISK Finnish from FINRISK project Study-wide 304 C=0.964 G=0.036
Qatari Global Study-wide 216 C=0.968 G=0.032
The Danish reference pan genome Danish Study-wide 40 C=0.97 G=0.03
SGDP_PRJ Global Study-wide 8 C=0.2 G=0.8
Siberian Global Study-wide 2 C=0.5 G=0.5
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= G
GRCh38.p13 chr 22 NC_000022.11:g.46218377= NC_000022.11:g.46218377C>G
GRCh37.p13 chr 22 NC_000022.10:g.46614274= NC_000022.10:g.46614274C>G
PPARA RefSeqGene NG_012204.2:g.72844= NG_012204.2:g.72844C>G
PPARA transcript variant 5 NM_005036.6:c.484= NM_005036.6:c.484C>G
PPARA transcript variant 5 NM_005036.5:c.484= NM_005036.5:c.484C>G
PPARA transcript variant 5 NM_005036.4:c.484= NM_005036.4:c.484C>G
PPARA transcript variant 3 NM_001001928.4:c.484= NM_001001928.4:c.484C>G
PPARA transcript variant 3 NM_001001928.3:c.484= NM_001001928.3:c.484C>G
PPARA transcript variant 3 NM_001001928.2:c.484= NM_001001928.2:c.484C>G
PPARA transcript variant 9 NM_001362873.2:c.484= NM_001362873.2:c.484C>G
PPARA transcript variant 9 NM_001362873.1:c.484= NM_001362873.1:c.484C>G
PPARA transcript variant 8 NM_001362872.2:c.484= NM_001362872.2:c.484C>G
PPARA transcript variant 8 NM_001362872.1:c.484= NM_001362872.1:c.484C>G
PPARA transcript variant X8 XM_005261656.3:c.484= XM_005261656.3:c.484C>G
PPARA transcript variant X4 XM_005261656.1:c.484= XM_005261656.1:c.484C>G
PPARA transcript variant 7 NM_032644.3:c.484= NM_032644.3:c.484C>G
PPARA transcript variant X7 XM_006724270.3:c.484= XM_006724270.3:c.484C>G
PPARA transcript variant 6 NM_001001930.2:c.484= NM_001001930.2:c.484C>G
Protein-coding transcripts NM_001001929.2:c.484= NM_001001929.2:c.484C>G
PPARA transcript variant X11 XM_011530244.2:c.78= XM_011530244.2:c.78C>G
PPARA transcript variant X4 XM_011530240.2:c.484= XM_011530240.2:c.484C>G
PPARA transcript variant X1 XM_011530239.2:c.484= XM_011530239.2:c.484C>G
PPARA transcript variant X9 XM_011530243.2:c.484= XM_011530243.2:c.484C>G
PPARA transcript variant X5 XM_011530241.2:c.484= XM_011530241.2:c.484C>G
PPARA transcript variant X12 XM_011530245.2:c.78= XM_011530245.2:c.78C>G
PPARA transcript variant X6 XM_011530242.2:c.484= XM_011530242.2:c.484C>G
PPARA transcript variant 7 NM_032644.2:c.484= NM_032644.2:c.484C>G
PPARA transcript variant X15 XR_937869.2:n.802= XR_937869.2:n.802C>G
PPARA transcript variant X17 XR_937870.2:n.802= XR_937870.2:n.802C>G
PPARA transcript variant X16 XR_001755253.1:n.802= XR_001755253.1:n.802C>G
PPARA transcript variant 6 NM_001001930.1:c.484= NM_001001930.1:c.484C>G
PPARA transcript variant 4 NM_001001929.1:c.484= NM_001001929.1:c.484C>G
PPARA transcript variant X13 XM_017028839.1:c.78= XM_017028839.1:c.78C>G
PPARA transcript variant X10 XM_024452252.1:c.78= XM_024452252.1:c.78C>G
PPARA transcript variant X14 XM_024452253.1:c.78= XM_024452253.1:c.78C>G
peroxisome proliferator-activated receptor alpha isoform 1 NP_005027.2:p.Leu162= NP_005027.2:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform 1 NP_001001928.1:p.Leu162= NP_001001928.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform 1 NP_001349802.1:p.Leu162= NP_001349802.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform 1 NP_001349801.1:p.Leu162= NP_001349801.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform X1 XP_005261713.1:p.Leu162= XP_005261713.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform X1 XP_006724333.1:p.Leu162= XP_006724333.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform X2 XP_011528546.1:p.Ala26= XP_011528546.1:p.Ala26=
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528542.1:p.Leu162= XP_011528542.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528541.1:p.Leu162= XP_011528541.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528545.1:p.Leu162= XP_011528545.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528543.1:p.Leu162= XP_011528543.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform X2 XP_011528547.1:p.Ala26= XP_011528547.1:p.Ala26=
peroxisome proliferator-activated receptor alpha isoform X1 XP_011528544.1:p.Leu162= XP_011528544.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha isoform X2 XP_016884328.1:p.Ala26= XP_016884328.1:p.Ala26=
peroxisome proliferator-activated receptor alpha isoform X2 XP_024308020.1:p.Ala26= XP_024308020.1:p.Ala26=
peroxisome proliferator-activated receptor alpha isoform X3 XP_024308021.1:p.Ala26= XP_024308021.1:p.Ala26=
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

80 SubSNP, 22 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2420272 Nov 14, 2000 (89)
2 PGA-UW-FHCRC ss5609875 Feb 20, 2003 (114)
3 SNP500CANCER ss8819830 Jul 02, 2003 (116)
4 PARC ss23144275 Sep 20, 2004 (126)
5 APPLERA_GI ss48402215 Mar 11, 2006 (126)
6 PERLEGEN ss69270721 May 17, 2007 (127)
7 ILLUMINA ss74889102 Dec 07, 2007 (129)
8 PHARMGKB_AB_DME ss84167748 Dec 15, 2007 (130)
9 CANCER-GENOME ss86345333 Mar 23, 2008 (129)
10 BCMHGSC_JDW ss91943090 Mar 24, 2008 (129)
11 ENSEMBL ss138366331 Dec 01, 2009 (131)
12 ILLUMINA ss153736273 Dec 01, 2009 (131)
13 ILLUMINA ss159329722 Dec 01, 2009 (131)
14 OMICIA ss169708902 Aug 28, 2012 (137)
15 ILLUMINA ss172924511 Jul 04, 2010 (132)
16 1000GENOMES ss238095861 Jul 15, 2010 (132)
17 ILLUMINA ss244284997 Jul 04, 2010 (132)
18 OMIM-CURATED-RECORDS ss256302373 Aug 26, 2010 (132)
19 PJP ss292775289 May 09, 2011 (134)
20 NHLBI-ESP ss342546107 May 09, 2011 (134)
21 1000GENOMES ss491195454 May 04, 2012 (137)
22 EXOME_CHIP ss491573274 May 04, 2012 (137)
23 CLINSEQ_SNP ss491826731 May 04, 2012 (137)
24 ILLUMINA ss536285735 Sep 08, 2015 (146)
25 SSMP ss662620348 Apr 25, 2013 (138)
26 ILLUMINA ss832841731 Aug 21, 2014 (142)
27 ILLUMINA ss833432561 Aug 21, 2014 (142)
28 EVA-GONL ss995430336 Aug 21, 2014 (142)
29 1000GENOMES ss1367472738 Aug 21, 2014 (142)
30 EVA_GENOME_DK ss1579781466 Apr 01, 2015 (144)
31 EVA_FINRISK ss1584128703 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1640154866 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1683148899 Apr 01, 2015 (144)
34 EVA_EXAC ss1694401666 Apr 01, 2015 (144)
35 EVA_DECODE ss1699501728 Apr 01, 2015 (144)
36 EVA_MGP ss1711573474 Apr 01, 2015 (144)
37 WEILL_CORNELL_DGM ss1939001071 Feb 12, 2016 (147)
38 ILLUMINA ss1946598828 Feb 12, 2016 (147)
39 ILLUMINA ss1959988267 Feb 12, 2016 (147)
40 JJLAB ss2030272889 Sep 14, 2016 (149)
41 USC_VALOUEV ss2158895847 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2247958625 Dec 20, 2016 (150)
43 TOPMED ss2414969232 Dec 20, 2016 (150)
44 ILLUMINA ss2633889780 Nov 08, 2017 (151)
45 ILLUMINA ss2710961061 Nov 08, 2017 (151)
46 GNOMAD ss2745224862 Nov 08, 2017 (151)
47 GNOMAD ss2750582854 Nov 08, 2017 (151)
48 GNOMAD ss2975277228 Nov 08, 2017 (151)
49 AFFY ss2985241990 Nov 08, 2017 (151)
50 AFFY ss2985859535 Nov 08, 2017 (151)
51 SWEGEN ss3019432799 Nov 08, 2017 (151)
52 ILLUMINA ss3022195160 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3028973074 Nov 08, 2017 (151)
54 CSHL ss3352873328 Nov 08, 2017 (151)
55 TOPMED ss3379207529 Nov 08, 2017 (151)
56 ILLUMINA ss3625805017 Oct 12, 2018 (152)
57 ILLUMINA ss3628553791 Oct 12, 2018 (152)
58 ILLUMINA ss3638388127 Oct 12, 2018 (152)
59 ILLUMINA ss3643347275 Oct 12, 2018 (152)
60 ILLUMINA ss3644803153 Oct 12, 2018 (152)
61 OMUKHERJEE_ADBS ss3646569142 Oct 12, 2018 (152)
62 ILLUMINA ss3652659831 Oct 12, 2018 (152)
63 ILLUMINA ss3654010345 Oct 12, 2018 (152)
64 EGCUT_WGS ss3685922344 Jul 13, 2019 (153)
65 EVA_DECODE ss3708357352 Jul 13, 2019 (153)
66 ILLUMINA ss3725976027 Jul 13, 2019 (153)
67 ACPOP ss3744000537 Jul 13, 2019 (153)
68 ILLUMINA ss3744208029 Jul 13, 2019 (153)
69 PAGE_CC ss3772097719 Jul 13, 2019 (153)
70 EVA ss3825459770 Apr 27, 2020 (154)
71 EVA ss3825973966 Apr 27, 2020 (154)
72 EVA ss3836030941 Apr 27, 2020 (154)
73 SGDP_PRJ ss3890714895 Apr 27, 2020 (154)
74 KOGIC ss3983808052 Apr 27, 2020 (154)
75 FSA-LAB ss3984238825 Apr 26, 2021 (155)
76 EVA ss3986869050 Apr 26, 2021 (155)
77 EVA ss4017885228 Apr 26, 2021 (155)
78 TOPMED ss5111928564 Apr 26, 2021 (155)
79 TOMMO_GENOMICS ss5233000111 Apr 26, 2021 (155)
80 EVA ss5236992540 Apr 26, 2021 (155)
81 1000Genomes NC_000022.10 - 46614274 Oct 12, 2018 (152)
82 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 46614274 Oct 12, 2018 (152)
83 Genetic variation in the Estonian population NC_000022.10 - 46614274 Oct 12, 2018 (152)
84 ExAC NC_000022.10 - 46614274 Oct 12, 2018 (152)
85 FINRISK NC_000022.10 - 46614274 Apr 27, 2020 (154)
86 The Danish reference pan genome NC_000022.10 - 46614274 Apr 27, 2020 (154)
87 gnomAD - Genomes NC_000022.11 - 46218377 Apr 26, 2021 (155)
88 gnomAD - Exomes NC_000022.10 - 46614274 Jul 13, 2019 (153)
89 Genome of the Netherlands Release 5 NC_000022.10 - 46614274 Apr 27, 2020 (154)
90 HapMap NC_000022.11 - 46218377 Apr 27, 2020 (154)
91 Korean Genome Project NC_000022.11 - 46218377 Apr 27, 2020 (154)
92 Medical Genome Project healthy controls from Spanish population NC_000022.10 - 46614274 Apr 27, 2020 (154)
93 Northern Sweden NC_000022.10 - 46614274 Jul 13, 2019 (153)
94 The PAGE Study NC_000022.11 - 46218377 Jul 13, 2019 (153)
95 PharmGKB Aggregated NC_000022.11 - 46218377 Apr 27, 2020 (154)
96 Qatari NC_000022.10 - 46614274 Apr 27, 2020 (154)
97 SGDP_PRJ NC_000022.10 - 46614274 Apr 27, 2020 (154)
98 Siberian NC_000022.10 - 46614274 Apr 27, 2020 (154)
99 8.3KJPN NC_000022.10 - 46614274 Apr 26, 2021 (155)
100 TopMed NC_000022.11 - 46218377 Apr 26, 2021 (155)
101 UK 10K study - Twins NC_000022.10 - 46614274 Oct 12, 2018 (152)
102 ALFA NC_000022.11 - 46218377 Apr 26, 2021 (155)
103 ClinVar RCV000014700.3 Oct 12, 2018 (152)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs4253796 Apr 21, 2003 (114)
rs17248699 Mar 11, 2006 (126)
rs59477602 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss91943090, ss292775289, ss491826731, ss1699501728, ss3643347275 NC_000022.9:44992937:C:G NC_000022.11:46218376:C:G (self)
81035951, 44825854, 31660592, 5986639, 125164, 5946405, 14559121, 19970378, 689234, 17285402, 21042993, 42731875, 11412201, 90969418, 44825854, ss238095861, ss342546107, ss491195454, ss491573274, ss536285735, ss662620348, ss832841731, ss833432561, ss995430336, ss1367472738, ss1579781466, ss1584128703, ss1640154866, ss1683148899, ss1694401666, ss1711573474, ss1939001071, ss1946598828, ss1959988267, ss2030272889, ss2158895847, ss2414969232, ss2633889780, ss2710961061, ss2745224862, ss2750582854, ss2975277228, ss2985241990, ss2985859535, ss3019432799, ss3022195160, ss3352873328, ss3625805017, ss3628553791, ss3638388127, ss3644803153, ss3646569142, ss3652659831, ss3654010345, ss3685922344, ss3744000537, ss3744208029, ss3825459770, ss3825973966, ss3836030941, ss3890714895, ss3984238825, ss3986869050, ss4017885228, ss5233000111 NC_000022.10:46614273:C:G NC_000022.11:46218376:C:G (self)
RCV000014700.3, 572231105, 2271076, 40186053, 1319188, 7841, 241793850, 387037511, 13969193091, ss169708902, ss256302373, ss2247958625, ss3028973074, ss3379207529, ss3708357352, ss3725976027, ss3772097719, ss3983808052, ss5111928564, ss5236992540 NC_000022.11:46218376:C:G NC_000022.11:46218376:C:G (self)
ss2420272, ss5609875, ss8819830, ss23144275, ss48402215, ss69270721, ss74889102, ss84167748, ss86345333, ss138366331, ss153736273, ss159329722, ss172924511, ss244284997 NT_011520.12:26004842:C:G NC_000022.11:46218376:C:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

44 citations for rs1800206
PMID Title Author Year Journal
10828087 Molecular scanning of the human PPARa gene: association of the L162v mutation with hyperapobetalipoproteinemia. Vohl MC et al. 2000 Journal of lipid research
12006394 Association between the PPARA L162V polymorphism and plasma lipid levels: the Framingham Offspring Study. Tai ES et al. 2002 Arteriosclerosis, thrombosis, and vascular biology
15309680 Association between the PPARalpha-L162V polymorphism and components of the metabolic syndrome. Robitaille J et al. 2004 Journal of human genetics
17317762 Single nucleotide polymorphisms of the peroxisome proliferator-activated receptor-alpha gene (PPARA) influence the conversion from impaired glucose tolerance to type 2 diabetes: the STOP-NIDDM trial. Andrulionyte L et al. 2007 Diabetes
17850927 The PPAR-alpha gene in Alzheimer's disease: lack of replication of earlier association. Sjölander A et al. 2009 Neurobiology of aging
18304332 No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins. Haworth CM et al. 2008 BMC medical genetics
18401448 PPAR Genomics and Pharmacogenomics: Implications for Cardiovascular Disease. Cresci S et al. 2008 PPAR research
18541586 Peroxisome proliferator-activated receptor [alpha] genetic variation interacts with n-6 and long-chain n-3 fatty acid intake to affect total cholesterol and LDL-cholesterol concentrations in the Atherosclerosis Risk in Communities Study. Volcik KA et al. 2008 The American journal of clinical nutrition
18549840 Cholesterol ester transfer protein, interleukin-8, peroxisome proliferator activator receptor alpha, and Toll-like receptor 4 genetic variations and risk of incident nonfatal myocardial infarction and ischemic stroke. Enquobahrie DA et al. 2008 The American journal of cardiology
18586686 Peroxisome proliferator-activated receptor-alpha (PPARA) genetic polymorphisms and breast cancer risk: a Long Island ancillary study. Golembesky AK et al. 2008 Carcinogenesis
18855529 Interaction between PPARA genotype and beta-blocker treatment influences clinical outcomes following acute coronary syndromes. Cresci S et al. 2008 Pharmacogenomics
19041386 Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. Boes E et al. 2009 Experimental gerontology
19223982 Genetic variability of RXRB, PPARA, and PPARG in Wegener's granulomatosis. Wieczorek S et al. 2009 PPAR research
19736300 Genetic basis of inter-individual variability in the effects of exercise on the alleviation of lifestyle-related diseases. Mori M et al. 2009 The Journal of physiology
19773451 Role of inflammation gene polymorphisms on pain severity in lung cancer patients. Reyes-Gibby CC et al. 2009 Cancer epidemiology, biomarkers & prevention
20414453 PPARalpha: energy combustion, hypolipidemia, inflammation and cancer. Pyper SR et al. 2010 Nuclear receptor signaling
20811626 Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer. Hildebrandt MA et al. 2010 PloS one
20825652 Lack of association between peroxisome proliferator-activated receptors alpha and gamma2 polymorphisms and progressive liver damage in patients with non-alcoholic fatty liver disease: a case control study. Dongiovanni P et al. 2010 BMC gastroenterology
21430558 Association of the peroxisome proliferator-activated receptor α gene L162V polymorphism with stage C heart failure. Arias T et al. 2011 Journal of hypertension
21487230 Effects of peroxisome proliferator-activated receptors, dietary fat intakes and gene-diet interactions on peak particle diameters of low-density lipoproteins. Bouchard-Mercier A et al. 2011 Journal of nutrigenetics and nutrigenomics
22378291 PPARγ2 gene Pro12Ala and PPARα gene Leu162Val single nucleotide polymorphisms interact with dietary intake of fat in determination of plasma lipid concentrations. Alsaleh A et al. 2011 Journal of nutrigenetics and nutrigenomics
22380508 Cognitive reserve, cortical plasticity and resistance to Alzheimer's disease. Esiri MM et al. 2012 Alzheimer's research & therapy
22493750 Interactions between PPAR-α and inflammation-related cytokine genes on the development of Alzheimer's disease, observed by the Epistasis Project. Heun R et al. 2012 International journal of molecular epidemiology and genetics
22920733 Investigation of endocannabinoid system genes suggests association between peroxisome proliferator activator receptor-α gene (PPARA) and schizophrenia. Costa M et al. 2013 European neuropsychopharmacology
23262340 Gene-gene interactions among PPARα/δ/γ polymorphisms for hypertriglyceridemia in Chinese Han population. Gu SJ et al. 2013 Gene
23545576 Association of peroxisome proliferator-activated receptor α/δ/γ with obesity, and gene-gene interaction, in the Chinese Han population. Luo W et al. 2013 Journal of epidemiology
24460649 PPAR α and PPAR γ polymorphisms as risk factors for dyslipidemia in a Chinese Han population. Gu SJ et al. 2014 Lipids in health and disease
24599720 Effect of obesity on the association between common variations in the PPAR gene and C-reactive protein level in Chinese Han population. Gu SJ et al. 2015 Endocrine
24880474 Analysis on the association between PPARα/γ polymorphisms and lipoprotein(a) in a Chinese Han population. Xie HJ et al. 2014 Molecular genetics and genomics
25430627 A genetic risk tool for obesity predisposition assessment and personalized nutrition implementation based on macronutrient intake. Goni L et al. 2015 Genes & nutrition
25987964 Role of peroxisome proliferator-activated receptors gene polymorphisms in type 2 diabetes and metabolic syndrome. Dong C et al. 2015 World journal of diabetes
26098621 Association and interaction of PPARα, δ, and γ gene polymorphisms with low-density lipoprotein-cholesterol in a Chinese Han population. Fan W et al. 2015 Genetic testing and molecular biomarkers
26497374 Study on association of peroxisome proliferator-activated receptor α with C-reactive protein, and additional gene-gene interaction in Chinese Han. Zhang SQ et al. 2015 Archives of Iranian medicine
26965314 Gene polymorphisms associated with non-alcoholic fatty liver disease and coronary artery disease: a concise review. Li XL et al. 2016 Lipids in health and disease
27547017 Genetic factors that affect nonalcoholic fatty liver disease: A systematic clinical review. Severson TJ et al. 2016 World journal of gastroenterology
27624431 An association between the PPARα-L162V polymorphism and nicotine dependency among patients with schizophrenia. Nadalin S et al. 2016 Comprehensive psychiatry
28294290 Genetic Obesity Risk and Attenuation Effect of Physical Fitness in Mexican-Mestizo Population: a Case-Control Study. Costa-Urrutia P et al. 2017 Annals of human genetics
28577571 Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. Paththinige CS et al. 2017 Lipids in health and disease
28669518 Impact of Interaction Between PPAR Alpha and PPAR Gamma on Breast Cancer Risk in the Chinese Han Population. Lianggeng X et al. 2017 Clinical breast cancer
29795275 Phenotype and genotype predictors of BMI variability among European adults. Goni L et al. 2018 Nutrition & diabetes
30041843 Genetic susceptibility to pre diabetes mellitus and related association with obesity and physical fitness components in Mexican-Mestizos. Costa-Urrutia P et al. 2018 Primary care diabetes
31252163 PPARA, PPARD and PPARG gene polymorphisms in patients with unstable angina. Maciejewska-Skrendo A et al. 2019 Gene
31319591 The Polymorphisms of the Peroxisome-Proliferator Activated Receptors' Alfa Gene Modify the Aerobic Training Induced Changes of Cholesterol and Glucose. Maciejewska-Skrendo A et al. 2019 Journal of clinical medicine
32713352 Does polymorphisms in <i>PPAR</i> and <i>APOE</i> genes modify associations between fatty acid desaturase (<i>FADS</i>), <i>n</i>-3 long-chain PUFA and cardiometabolic markers in 8-11-year-old Danish children? Damsgaard CT et al. 2021 The British journal of nutrition
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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post593+28e45f6