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dbSNP Short Genetic Variations

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 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr22:46218377 (GRCh38.p12) 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=0.04343 (10923/251492, GnomAD_exome)
G=0.04362 (5477/125568, TOPMED)
G=0.04246 (5155/121410, ExAC) (+ 7 more)
G=0.0286 (2251/78696, PAGE_STUDY)
G=0.0404 (1269/31376, GnomAD)
G=0.023 (114/5008, 1000G)
G=0.040 (177/4480, Estonian)
G=0.069 (267/3854, ALSPAC)
G=0.068 (252/3708, TWINSUK)
G=0.03 (19/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PPARA : Missense Variant
Publications
41 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.p12 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
PPARA RefSeqGene NG_012204.1:g.72776C>G
Gene: PPARA, peroxisome proliferator activated receptor alpha (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PPARA transcript variant 9 NM_001362873.1:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha NP_001349802.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant 3 NM_001001928.3:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha NP_001001928.1:p.Leu162Val L (Leu) > V (Val) Missense Variant
PPARA transcript variant 8 NM_001362872.2:c.484C>G L [CTT] > V [GTT] Coding Sequence Variant
peroxisome proliferator-activated receptor alpha 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 NP_005027.2: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
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
gnomAD - Exomes Global Study-wide 251492 C=0.95657 G=0.04343
gnomAD - Exomes European Sub 135414 C=0.94218 G=0.05782
gnomAD - Exomes Asian Sub 49010 C=0.9847 G=0.0153
gnomAD - Exomes American Sub 34592 C=0.9598 G=0.0402
gnomAD - Exomes African Sub 16256 C=0.9895 G=0.0105
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=0.9571 G=0.0429
gnomAD - Exomes Other Sub 6140 C=0.943 G=0.057
TopMed Global Study-wide 125568 C=0.95638 G=0.04362
ExAC Global Study-wide 121410 C=0.95754 G=0.04246
ExAC Europe Sub 73352 C=0.9431 G=0.0569
ExAC Asian Sub 25166 C=0.9845 G=0.0155
ExAC American Sub 11578 C=0.9634 G=0.0366
ExAC African Sub 10406 C=0.9875 G=0.0125
ExAC Other Sub 908 C=0.96 G=0.04
The PAGE Study Global Study-wide 78696 C=0.9714 G=0.0286
The PAGE Study AfricanAmerican Sub 32514 C=0.9864 G=0.0136
The PAGE Study Mexican Sub 10810 C=0.9519 G=0.0481
The PAGE Study Asian Sub 8316 C=1.000 G=0.000
The PAGE Study PuertoRican Sub 7916 C=0.939 G=0.061
The PAGE Study NativeHawaiian Sub 4534 C=0.978 G=0.022
The PAGE Study Cuban Sub 4230 C=0.928 G=0.072
The PAGE Study Dominican Sub 3828 C=0.963 G=0.037
The PAGE Study CentralAmerican Sub 2450 C=0.968 G=0.032
The PAGE Study SouthAmerican Sub 1982 C=0.958 G=0.042
The PAGE Study NativeAmerican Sub 1260 C=0.939 G=0.061
The PAGE Study SouthAsian Sub 856 C=0.97 G=0.03
gnomAD - Genomes Global Study-wide 31376 C=0.9596 G=0.0404
gnomAD - Genomes European Sub 18886 C=0.9442 G=0.0558
gnomAD - Genomes African Sub 8710 C=0.987 G=0.013
gnomAD - Genomes East Asian Sub 1558 C=1.000 G=0.000
gnomAD - Genomes Other Sub 1086 C=0.951 G=0.049
gnomAD - Genomes American Sub 848 C=0.96 G=0.04
gnomAD - Genomes Ashkenazi Jewish Sub 288 C=0.97 G=0.03
1000Genomes Global Study-wide 5008 C=0.977 G=0.023
1000Genomes African Sub 1322 C=0.995 G=0.005
1000Genomes East Asian Sub 1008 C=1.000 G=0.000
1000Genomes Europe Sub 1006 C=0.941 G=0.059
1000Genomes South Asian Sub 978 C=0.98 G=0.02
1000Genomes American Sub 694 C=0.97 G=0.03
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.960 G=0.040
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.931 G=0.069
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.932 G=0.068
Northern Sweden ACPOP Study-wide 600 C=0.97 G=0.03
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 Note
GRCh38.p12 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 RefSeqGene NG_012204.1:g.72776= NG_012204.1:g.72776C>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_001001928.3: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 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 9 NM_001362873.1:c.484= NM_001362873.1: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 X7 XM_006724270.3:c.484= XM_006724270.3: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 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 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 NP_005027.2:p.Leu162= NP_005027.2:p.Leu162Val
peroxisome proliferator-activated receptor alpha NP_001001928.1:p.Leu162= NP_001001928.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha NP_001349801.1:p.Leu162= NP_001349801.1:p.Leu162Val
peroxisome proliferator-activated receptor alpha NP_001349802.1:p.Leu162= NP_001349802.1: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#.

69 SubSNP, 10 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 1000Genomes NC_000022.10 - 46614274 Oct 12, 2018 (152)
71 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 46614274 Oct 12, 2018 (152)
72 Genetic variation in the Estonian population NC_000022.10 - 46614274 Oct 12, 2018 (152)
73 ExAC NC_000022.10 - 46614274 Oct 12, 2018 (152)
74 gnomAD - Genomes NC_000022.10 - 46614274 Jul 13, 2019 (153)
75 gnomAD - Exomes NC_000022.10 - 46614274 Jul 13, 2019 (153)
76 Northern Sweden NC_000022.10 - 46614274 Jul 13, 2019 (153)
77 The PAGE Study NC_000022.11 - 46218377 Jul 13, 2019 (153)
78 TopMed NC_000022.11 - 46218377 Oct 12, 2018 (152)
79 UK 10K study - Twins NC_000022.10 - 46614274 Oct 12, 2018 (152)
80 ClinVar RCV000014700.3 Oct 12, 2018 (152)
Help

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, 221061698, 14559121, 17285402, 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 NC_000022.10:46614273:C:G NC_000022.11:46218376:C:G (self)
RCV000014700.3, 1319188, 241793850, ss169708902, ss256302373, ss2247958625, ss3028973074, ss3379207529, ss3708357352, ss3725976027, ss3772097719 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)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

41 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
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Genomic regions, transcripts, and products
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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.post246+3cda961