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.
rs4253778
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr22:46234737 (GRCh38.p14) 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
- G>C / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.331433 (87727/264690, TOPMED)C=0.38030 (29925/78688, PAGE_STUDY)C=0.00014 (4/28258, 14KJPN) (+ 16 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- PPARA : Intron Variant
- Publications
- 32 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
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.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 16698 | G=0.88897 | C=0.11091, T=0.00012 |
| European | Sub | 15022 | G=0.88657 | C=0.11330, T=0.00013 |
| African | Sub | 414 | G=0.795 | C=0.205, T=0.000 |
| African Others | Sub | 6 | G=0.0 | C=1.0, T=0.0 |
| African American | Sub | 408 | G=0.806 | C=0.194, T=0.000 |
| Asian | Sub | 112 | G=1.000 | C=0.000, T=0.000 |
| East Asian | Sub | 86 | G=1.00 | C=0.00, T=0.00 |
| Other Asian | Sub | 26 | G=1.00 | C=0.00, T=0.00 |
| Latin American 1 | Sub | 82 | G=1.00 | C=0.00, T=0.00 |
| Latin American 2 | Sub | 466 | G=1.000 | C=0.000, T=0.000 |
| South Asian | Sub | 80 | G=1.00 | C=0.00, T=0.00 |
| Other | Sub | 522 | G=0.875 | C=0.125, T=0.000 |
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 | G=0.668567 | C=0.331433 |
| The PAGE Study | Global | Study-wide | 78688 | G=0.61970 | C=0.38030 |
| The PAGE Study | AfricanAmerican | Sub | 32506 | G=0.32951 | C=0.67049 |
| The PAGE Study | Mexican | Sub | 10810 | G=0.87308 | C=0.12692 |
| The PAGE Study | Asian | Sub | 8316 | G=0.9986 | C=0.0014 |
| The PAGE Study | PuertoRican | Sub | 7916 | G=0.6731 | C=0.3269 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.9433 | C=0.0567 |
| The PAGE Study | Cuban | Sub | 4230 | G=0.7343 | C=0.2657 |
| The PAGE Study | Dominican | Sub | 3828 | G=0.5739 | C=0.4261 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.8008 | C=0.1992 |
| The PAGE Study | SouthAmerican | Sub | 1982 | G=0.8557 | C=0.1443 |
| The PAGE Study | NativeAmerican | Sub | 1260 | G=0.7714 | C=0.2286 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.902 | C=0.098 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.99986 | C=0.00014 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.99988 | C=0.00012 |
| Allele Frequency Aggregator | Total | Global | 16698 | G=0.88897 | C=0.11091, T=0.00012 |
| Allele Frequency Aggregator | European | Sub | 15022 | G=0.88657 | C=0.11330, T=0.00013 |
| Allele Frequency Aggregator | Other | Sub | 522 | G=0.875 | C=0.125, T=0.000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 466 | G=1.000 | C=0.000, T=0.000 |
| Allele Frequency Aggregator | African | Sub | 414 | G=0.795 | C=0.205, T=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | C=0.000, T=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 82 | G=1.00 | C=0.00, T=0.00 |
| Allele Frequency Aggregator | South Asian | Sub | 80 | G=1.00 | C=0.00, T=0.00 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.7125 | C=0.2875 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.2458 | C=0.7542 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.8128 | C=0.1872 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.9260 | C=0.0740 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.9991 | C=0.0009 |
| 1000Genomes_30x | American | Sub | 980 | G=0.830 | C=0.170 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.7258 | C=0.2742 |
| 1000Genomes | African | Sub | 1322 | G=0.2549 | C=0.7451 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.9990 | C=0.0010 |
| 1000Genomes | Europe | Sub | 1006 | G=0.8082 | C=0.1918 |
| 1000Genomes | South Asian | Sub | 978 | G=0.922 | C=0.078 |
| 1000Genomes | American | Sub | 694 | G=0.830 | C=0.170 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4476 | G=0.8351 | C=0.1649 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.8147 | C=0.1853 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.8293 | C=0.1707 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.9989 | C=0.0011 |
| HapMap | Global | Study-wide | 1554 | G=0.5978 | C=0.4022 |
| HapMap | African | Sub | 688 | G=0.334 | C=0.666 |
| HapMap | American | Sub | 600 | G=0.800 | C=0.200 |
| HapMap | Europe | Sub | 176 | G=0.733 | C=0.267 |
| HapMap | Asian | Sub | 90 | G=1.00 | C=0.00 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.823 | C=0.177 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.999 | C=0.001 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.999 | C=0.001 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.853 | C=0.147 |
| Qatari | Global | Study-wide | 216 | G=0.773 | C=0.227 |
| SGDP_PRJ | Global | Study-wide | 130 | G=0.315 | C=0.685 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.88 | C=0.12 |
| Siberian | Global | Study-wide | 8 | G=0.4 | C=0.6 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.46234737G>C |
| GRCh38.p14 chr 22 | NC_000022.11:g.46234737G>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.46630634G>C |
| GRCh37.p13 chr 22 | NC_000022.10:g.46630634G>T |
| PPARA RefSeqGene | NG_012204.2:g.89204G>C |
| PPARA RefSeqGene | NG_012204.2:g.89204G>T |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| PPARA transcript variant 3 |
NM_001001928.4:c.1160-396… NM_001001928.4:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 4 |
NM_001001929.3:c.1160-396… NM_001001929.3:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 8 |
NM_001362872.2:c.1160-396… NM_001362872.2:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 9 |
NM_001362873.3:c.1160-396… NM_001362873.3:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 10 |
NM_001393941.1:c.1160-396… NM_001393941.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 11 |
NM_001393942.1:c.1160-396… NM_001393942.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 12 |
NM_001393943.1:c.1160-396… NM_001393943.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 13 |
NM_001393944.1:c.1160-396… NM_001393944.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 14 |
NM_001393945.1:c.1160-396… NM_001393945.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 15 |
NM_001393946.1:c.1145-396… NM_001393946.1:c.1145-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 16 |
NM_001393947.1:c.509-396G… NM_001393947.1:c.509-396G>C |
N/A | Intron Variant |
| PPARA transcript variant 5 | NM_005036.6:c.1160-396G>C | N/A | Intron Variant |
| PPARA transcript variant X2 |
XM_011530239.3:c.1160-396… XM_011530239.3:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X1 |
XM_011530240.3:c.1160-396… XM_011530240.3:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X10 |
XM_017028839.2:c.758-396G… XM_017028839.2:c.758-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X3 |
XM_047441420.1:c.1160-396… XM_047441420.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X4 |
XM_047441421.1:c.1160-396… XM_047441421.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X5 |
XM_047441422.1:c.1160-396… XM_047441422.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X6 |
XM_047441423.1:c.1160-396… XM_047441423.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X7 |
XM_047441424.1:c.1160-396… XM_047441424.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X8 |
XM_047441425.1:c.1160-396… XM_047441425.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X9 |
XM_047441426.1:c.1160-396… XM_047441426.1:c.1160-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X11 |
XM_047441427.1:c.551-396G… XM_047441427.1:c.551-396G>C |
N/A | Intron Variant |
| PPARA transcript variant X12 | XM_047441428.1:c. | N/A | Genic Downstream Transcript Variant |
| PPARA transcript variant X13 | XM_047441429.1:c. | N/A | Genic Downstream Transcript Variant |
| PPARA transcript variant X14 | XM_047441430.1:c. | N/A | Genic Downstream Transcript Variant |
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.
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 | G= | C | T |
|---|---|---|---|
| GRCh38.p14 chr 22 | NC_000022.11:g.46234737= | NC_000022.11:g.46234737G>C | NC_000022.11:g.46234737G>T |
| GRCh37.p13 chr 22 | NC_000022.10:g.46630634= | NC_000022.10:g.46630634G>C | NC_000022.10:g.46630634G>T |
| PPARA RefSeqGene | NG_012204.2:g.89204= | NG_012204.2:g.89204G>C | NG_012204.2:g.89204G>T |
| PPARA transcript variant 3 | NM_001001928.2:c.1160-396= | NM_001001928.2:c.1160-396G>C | NM_001001928.2:c.1160-396G>T |
| PPARA transcript variant 3 | NM_001001928.4:c.1160-396= | NM_001001928.4:c.1160-396G>C | NM_001001928.4:c.1160-396G>T |
| PPARA transcript variant 4 | NM_001001929.3:c.1160-396= | NM_001001929.3:c.1160-396G>C | NM_001001929.3:c.1160-396G>T |
| PPARA transcript variant 8 | NM_001362872.2:c.1160-396= | NM_001362872.2:c.1160-396G>C | NM_001362872.2:c.1160-396G>T |
| PPARA transcript variant 9 | NM_001362873.3:c.1160-396= | NM_001362873.3:c.1160-396G>C | NM_001362873.3:c.1160-396G>T |
| PPARA transcript variant 10 | NM_001393941.1:c.1160-396= | NM_001393941.1:c.1160-396G>C | NM_001393941.1:c.1160-396G>T |
| PPARA transcript variant 11 | NM_001393942.1:c.1160-396= | NM_001393942.1:c.1160-396G>C | NM_001393942.1:c.1160-396G>T |
| PPARA transcript variant 12 | NM_001393943.1:c.1160-396= | NM_001393943.1:c.1160-396G>C | NM_001393943.1:c.1160-396G>T |
| PPARA transcript variant 13 | NM_001393944.1:c.1160-396= | NM_001393944.1:c.1160-396G>C | NM_001393944.1:c.1160-396G>T |
| PPARA transcript variant 14 | NM_001393945.1:c.1160-396= | NM_001393945.1:c.1160-396G>C | NM_001393945.1:c.1160-396G>T |
| PPARA transcript variant 15 | NM_001393946.1:c.1145-396= | NM_001393946.1:c.1145-396G>C | NM_001393946.1:c.1145-396G>T |
| PPARA transcript variant 16 | NM_001393947.1:c.509-396= | NM_001393947.1:c.509-396G>C | NM_001393947.1:c.509-396G>T |
| PPARA transcript variant 5 | NM_005036.4:c.1160-396= | NM_005036.4:c.1160-396G>C | NM_005036.4:c.1160-396G>T |
| PPARA transcript variant 5 | NM_005036.6:c.1160-396= | NM_005036.6:c.1160-396G>C | NM_005036.6:c.1160-396G>T |
| PPARA transcript variant X1 | XM_005261653.1:c.1160-396= | XM_005261653.1:c.1160-396G>C | XM_005261653.1:c.1160-396G>T |
| PPARA transcript variant X2 | XM_005261654.1:c.1160-396= | XM_005261654.1:c.1160-396G>C | XM_005261654.1:c.1160-396G>T |
| PPARA transcript variant X3 | XM_005261655.1:c.1160-396= | XM_005261655.1:c.1160-396G>C | XM_005261655.1:c.1160-396G>T |
| PPARA transcript variant X4 | XM_005261656.1:c.1160-396= | XM_005261656.1:c.1160-396G>C | XM_005261656.1:c.1160-396G>T |
| PPARA transcript variant X5 | XM_005261657.1:c.1160-396= | XM_005261657.1:c.1160-396G>C | XM_005261657.1:c.1160-396G>T |
| PPARA transcript variant X6 | XM_005261658.1:c.1160-396= | XM_005261658.1:c.1160-396G>C | XM_005261658.1:c.1160-396G>T |
| PPARA transcript variant X2 | XM_011530239.3:c.1160-396= | XM_011530239.3:c.1160-396G>C | XM_011530239.3:c.1160-396G>T |
| PPARA transcript variant X1 | XM_011530240.3:c.1160-396= | XM_011530240.3:c.1160-396G>C | XM_011530240.3:c.1160-396G>T |
| PPARA transcript variant X10 | XM_017028839.2:c.758-396= | XM_017028839.2:c.758-396G>C | XM_017028839.2:c.758-396G>T |
| PPARA transcript variant X3 | XM_047441420.1:c.1160-396= | XM_047441420.1:c.1160-396G>C | XM_047441420.1:c.1160-396G>T |
| PPARA transcript variant X4 | XM_047441421.1:c.1160-396= | XM_047441421.1:c.1160-396G>C | XM_047441421.1:c.1160-396G>T |
| PPARA transcript variant X5 | XM_047441422.1:c.1160-396= | XM_047441422.1:c.1160-396G>C | XM_047441422.1:c.1160-396G>T |
| PPARA transcript variant X6 | XM_047441423.1:c.1160-396= | XM_047441423.1:c.1160-396G>C | XM_047441423.1:c.1160-396G>T |
| PPARA transcript variant X7 | XM_047441424.1:c.1160-396= | XM_047441424.1:c.1160-396G>C | XM_047441424.1:c.1160-396G>T |
| PPARA transcript variant X8 | XM_047441425.1:c.1160-396= | XM_047441425.1:c.1160-396G>C | XM_047441425.1:c.1160-396G>T |
| PPARA transcript variant X9 | XM_047441426.1:c.1160-396= | XM_047441426.1:c.1160-396G>C | XM_047441426.1:c.1160-396G>T |
| PPARA transcript variant X11 | XM_047441427.1:c.551-396= | XM_047441427.1:c.551-396G>C | XM_047441427.1:c.551-396G>T |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | PGA-UW-FHCRC | ss5609857 | Feb 20, 2003 (111) |
| 2 | SC_SNP | ss8305552 | Apr 21, 2003 (114) |
| 3 | CSHL-HAPMAP | ss16920176 | Feb 27, 2004 (120) |
| 4 | CSHL-HAPMAP | ss17715542 | Feb 27, 2004 (120) |
| 5 | PARC | ss23144257 | Sep 20, 2004 (126) |
| 6 | PERLEGEN | ss23613450 | Sep 20, 2004 (123) |
| 7 | ABI | ss44308020 | Mar 10, 2006 (126) |
| 8 | AFFY | ss66421516 | Dec 01, 2006 (127) |
| 9 | AFFY | ss76187345 | Dec 07, 2007 (129) |
| 10 | KRIBB_YJKIM | ss82006998 | Dec 14, 2007 (130) |
| 11 | HGSV | ss84910396 | Dec 15, 2007 (130) |
| 12 | 1000GENOMES | ss112699872 | Jan 25, 2009 (130) |
| 13 | ILLUMINA-UK | ss117430555 | Feb 14, 2009 (130) |
| 14 | ILLUMINA | ss160668271 | Dec 01, 2009 (131) |
| 15 | COMPLETE_GENOMICS | ss168092412 | Jul 04, 2010 (132) |
| 16 | AFFY | ss172748227 | Jul 04, 2010 (132) |
| 17 | ILLUMINA | ss173704034 | Jul 04, 2010 (132) |
| 18 | BUSHMAN | ss204111395 | Jul 04, 2010 (132) |
| 19 | 1000GENOMES | ss212130469 | Jul 14, 2010 (132) |
| 20 | 1000GENOMES | ss228717928 | Jul 14, 2010 (132) |
| 21 | 1000GENOMES | ss238095890 | Jul 15, 2010 (132) |
| 22 | ILLUMINA | ss244299441 | Jul 04, 2010 (132) |
| 23 | PJP | ss292722017 | May 09, 2011 (134) |
| 24 | ILLUMINA | ss481887795 | Sep 08, 2015 (146) |
| 25 | ILLUMINA | ss537222071 | Sep 08, 2015 (146) |
| 26 | TISHKOFF | ss566691654 | Apr 25, 2013 (138) |
| 27 | SSMP | ss662620416 | Apr 25, 2013 (138) |
| 28 | EVA-GONL | ss995430445 | Aug 21, 2014 (142) |
| 29 | JMKIDD_LAB | ss1082713437 | Aug 21, 2014 (142) |
| 30 | 1000GENOMES | ss1367473235 | Aug 21, 2014 (142) |
| 31 | DDI | ss1429279781 | Apr 01, 2015 (144) |
| 32 | EVA_GENOME_DK | ss1579781501 | Apr 01, 2015 (144) |
| 33 | EVA_UK10K_ALSPAC | ss1640155104 | Apr 01, 2015 (144) |
| 34 | EVA_UK10K_TWINSUK | ss1683149137 | Apr 01, 2015 (144) |
| 35 | EVA_DECODE | ss1699501849 | Apr 01, 2015 (144) |
| 36 | EVA_SVP | ss1713746776 | Apr 01, 2015 (144) |
| 37 | HAMMER_LAB | ss1809823270 | Sep 08, 2015 (146) |
| 38 | WEILL_CORNELL_DGM | ss1939001170 | Feb 12, 2016 (147) |
| 39 | ILLUMINA | ss1959988306 | Feb 12, 2016 (147) |
| 40 | JJLAB | ss2030272939 | Sep 14, 2016 (149) |
| 41 | USC_VALOUEV | ss2158895898 | Dec 20, 2016 (150) |
| 42 | HUMAN_LONGEVITY | ss2247959619 | Dec 20, 2016 (150) |
| 43 | GNOMAD | ss2975278578 | Nov 08, 2017 (151) |
| 44 | AFFY | ss2985241998 | Nov 08, 2017 (151) |
| 45 | AFFY | ss2985859589 | Nov 08, 2017 (151) |
| 46 | SWEGEN | ss3019433007 | Nov 08, 2017 (151) |
| 47 | ILLUMINA | ss3022195191 | Nov 08, 2017 (151) |
| 48 | BIOINF_KMB_FNS_UNIBA | ss3028973097 | Nov 08, 2017 (151) |
| 49 | CSHL | ss3352873366 | Nov 08, 2017 (151) |
| 50 | ILLUMINA | ss3628553830 | Oct 12, 2018 (152) |
| 51 | ILLUMINA | ss3636567983 | Oct 12, 2018 (152) |
| 52 | ILLUMINA | ss3638388147 | Oct 12, 2018 (152) |
| 53 | ILLUMINA | ss3652659863 | Oct 12, 2018 (152) |
| 54 | ILLUMINA | ss3654010355 | Oct 12, 2018 (152) |
| 55 | EGCUT_WGS | ss3685922526 | Jul 13, 2019 (153) |
| 56 | EVA_DECODE | ss3708357613 | Jul 13, 2019 (153) |
| 57 | ILLUMINA | ss3725976058 | Jul 13, 2019 (153) |
| 58 | ACPOP | ss3744000641 | Jul 13, 2019 (153) |
| 59 | EVA | ss3759478263 | Jul 13, 2019 (153) |
| 60 | PAGE_CC | ss3772097751 | Jul 13, 2019 (153) |
| 61 | PACBIO | ss3788847681 | Jul 13, 2019 (153) |
| 62 | PACBIO | ss3793709822 | Jul 13, 2019 (153) |
| 63 | PACBIO | ss3798596349 | Jul 13, 2019 (153) |
| 64 | KHV_HUMAN_GENOMES | ss3822636124 | Jul 13, 2019 (153) |
| 65 | EVA | ss3836030988 | Apr 27, 2020 (154) |
| 66 | EVA | ss3841643422 | Apr 27, 2020 (154) |
| 67 | EVA | ss3847158805 | Apr 27, 2020 (154) |
| 68 | SGDP_PRJ | ss3890715132 | Apr 27, 2020 (154) |
| 69 | KOGIC | ss3983808310 | Apr 27, 2020 (154) |
| 70 | EVA | ss3984761855 | Apr 26, 2021 (155) |
| 71 | TOPMED | ss5111932642 | Apr 26, 2021 (155) |
| 72 | TOMMO_GENOMICS | ss5233000686 | Apr 26, 2021 (155) |
| 73 | EVA | ss5237619220 | Apr 26, 2021 (155) |
| 74 | 1000G_HIGH_COVERAGE | ss5311379188 | Oct 16, 2022 (156) |
| 75 | EVA | ss5441811410 | Oct 16, 2022 (156) |
| 76 | HUGCELL_USP | ss5503194075 | Oct 16, 2022 (156) |
| 77 | EVA | ss5512401262 | Oct 16, 2022 (156) |
| 78 | 1000G_HIGH_COVERAGE | ss5619061892 | Oct 16, 2022 (156) |
| 79 | SANFORD_IMAGENETICS | ss5624505348 | Oct 16, 2022 (156) |
| 80 | SANFORD_IMAGENETICS | ss5664646401 | Oct 16, 2022 (156) |
| 81 | TOMMO_GENOMICS | ss5794244581 | Oct 16, 2022 (156) |
| 82 | EVA | ss5822180634 | Oct 16, 2022 (156) |
| 83 | EVA | ss5847947978 | Oct 16, 2022 (156) |
| 84 | EVA | ss5882131898 | Oct 16, 2022 (156) |
| 85 | EVA | ss5959504953 | Oct 16, 2022 (156) |
| 86 | EVA | ss5979640306 | Oct 16, 2022 (156) |
| 87 | 1000Genomes | NC_000022.10 - 46630634 | Oct 12, 2018 (152) |
| 88 | 1000Genomes_30x | NC_000022.11 - 46234737 | Oct 16, 2022 (156) |
| 89 | The Avon Longitudinal Study of Parents and Children | NC_000022.10 - 46630634 | Oct 12, 2018 (152) |
| 90 | Genetic variation in the Estonian population | NC_000022.10 - 46630634 | Oct 12, 2018 (152) |
| 91 | The Danish reference pan genome | NC_000022.10 - 46630634 | Apr 27, 2020 (154) |
| 92 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 93 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 94 | Genome of the Netherlands Release 5 | NC_000022.10 - 46630634 | Apr 27, 2020 (154) |
| 95 | HapMap | NC_000022.11 - 46234737 | Apr 27, 2020 (154) |
| 96 | Korean Genome Project | NC_000022.11 - 46234737 | Apr 27, 2020 (154) |
| 97 | Northern Sweden | NC_000022.10 - 46630634 | Jul 13, 2019 (153) |
| 98 | The PAGE Study | NC_000022.11 - 46234737 | Jul 13, 2019 (153) |
| 99 | CNV burdens in cranial meningiomas | NC_000022.10 - 46630634 | Apr 26, 2021 (155) |
| 100 | Qatari | NC_000022.10 - 46630634 | Apr 27, 2020 (154) |
| 101 | SGDP_PRJ | NC_000022.10 - 46630634 | Apr 27, 2020 (154) |
| 102 | Siberian | NC_000022.10 - 46630634 | Apr 27, 2020 (154) |
| 103 | 8.3KJPN | NC_000022.10 - 46630634 | Apr 26, 2021 (155) |
| 104 | 14KJPN | NC_000022.11 - 46234737 | Oct 16, 2022 (156) |
| 105 | TopMed | NC_000022.11 - 46234737 | Apr 26, 2021 (155) |
| 106 | UK 10K study - Twins | NC_000022.10 - 46630634 | Oct 12, 2018 (152) |
| 107 | ALFA | NC_000022.11 - 46234737 | Apr 26, 2021 (155) |
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) |
|---|---|
| rs17248629 | Mar 10, 2006 (126) |
| rs57323063 | Feb 27, 2009 (130) |
| rs61046783 | May 26, 2008 (130) |
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss84910396 | NC_000022.8:44951152:G:C | NC_000022.11:46234736:G:C | (self) |
| ss66421516, ss76187345, ss112699872, ss117430555, ss160668271, ss168092412, ss172748227, ss204111395, ss212130469, ss244299441, ss292722017, ss1699501849, ss1713746776 | NC_000022.9:45009297:G:C | NC_000022.11:46234736:G:C | (self) |
| 81036478, 44826129, 31660774, 5946440, 19970486, 17285506, 311448, 21043092, 42732112, 11412252, 90969993, 44826129, ss228717928, ss238095890, ss481887795, ss537222071, ss566691654, ss662620416, ss995430445, ss1082713437, ss1367473235, ss1429279781, ss1579781501, ss1640155104, ss1683149137, ss1809823270, ss1939001170, ss1959988306, ss2030272939, ss2158895898, ss2975278578, ss2985241998, ss2985859589, ss3019433007, ss3022195191, ss3352873366, ss3628553830, ss3636567983, ss3638388147, ss3652659863, ss3654010355, ss3685922526, ss3744000641, ss3759478263, ss3788847681, ss3793709822, ss3798596349, ss3836030988, ss3841643422, ss3890715132, ss3984761855, ss5233000686, ss5237619220, ss5441811410, ss5512401262, ss5624505348, ss5664646401, ss5822180634, ss5847947978, ss5959504953, ss5979640306 | NC_000022.10:46630633:G:C | NC_000022.11:46234736:G:C | (self) |
| 106587827, 2271100, 40186311, 1319220, 128081685, 387041589, 9381049746, ss2247959619, ss3028973097, ss3708357613, ss3725976058, ss3772097751, ss3822636124, ss3847158805, ss3983808310, ss5111932642, ss5311379188, ss5503194075, ss5619061892, ss5794244581, ss5882131898 | NC_000022.11:46234736:G:C | NC_000022.11:46234736:G:C | (self) |
| ss5609857, ss8305552, ss23144257, ss23613450, ss44308020, ss82006998, ss173704034 | NT_011520.12:26021202:G:C | NC_000022.11:46234736:G:C | (self) |
| ss16920176, ss17715542 | NT_011523.9:210517:G:C | NC_000022.11:46234736:G:C | (self) |
| ss2975278578 | NC_000022.10:46630633:G:T | NC_000022.11:46234736:G:T | (self) |
| 9381049746, ss2247959619 | NC_000022.11:46234736:G:T | NC_000022.11:46234736:G:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 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 |
| 18401448 | PPAR Genomics and Pharmacogenomics: Implications for Cardiovascular Disease. | Cresci S et al. | 2008 | PPAR research |
| 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 |
| 18855529 | Interaction between PPARA genotype and beta-blocker treatment influences clinical outcomes following acute coronary syndromes. | Cresci S et al. | 2008 | Pharmacogenomics |
| 19422653 | Do PPARGC1A and PPARalpha polymorphisms influence sprint or endurance phenotypes? | Eynon N et al. | 2010 | Scandinavian journal of medicine & science in sports |
| 19653005 | The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes. | Ahmetov II et al. | 2009 | Human genetics |
| 20620111 | Variation in the PPARα gene in Polish rowers. | Maciejewska A et al. | 2011 | Journal of science and medicine in sport |
| 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 |
| 21540342 | Genes and elite athletes: a roadmap for future research. | Eynon N et al. | 2011 | The Journal of physiology |
| 21935354 | Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. | Dewey FE et al. | 2011 | PLoS genetics |
| 22092351 | Is PPARα intron 7 G/C polymorphism associated with muscle strength characteristics in nonathletic young men? | Broos S et al. | 2013 | Scandinavian journal of medicine & science in sports |
| 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 |
| 23681449 | Genes for elite power and sprint performance: ACTN3 leads the way. | Eynon N et al. | 2013 | Sports medicine (Auckland, N.Z.) |
| 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 |
| 25198533 | PPARA intron polymorphism associated with power performance in 30-s anaerobic Wingate Test. | Petr M et al. | 2014 | PloS one |
| 25761120 | A genetic predisposition score associates with reduced aerobic capacity in response to acute normobaric hypoxia in lowlanders. | Masschelein E et al. | 2015 | High altitude medicine & biology |
| 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 |
| 27274104 | A genetic-based algorithm for personalized resistance training. | Jones N et al. | 2016 | Biology of sport |
| 30985523 | Effect of COL5A1, GDF5, and PPARA Genes on a Movement Screen and Neuromuscular Performance in Adolescent Team Sport Athletes. | Stastny P et al. | 2019 | Journal of strength and conditioning research |
| 31134135 | Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms. | Kulminski AM et al. | 2019 | Frontiers in genetics |
| 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 |
| 31881714 | Association of Elite Sports Status with Gene Variants of Peroxisome Proliferator Activated Receptors and Their Transcriptional Coactivator. | Petr M et al. | 2019 | International journal of molecular sciences |
| 32190036 | Association of Peroxisome Proliferator-Activated Receptors (PPARs) with Diabetic Retinopathy in Human and Animal Models: Analysis of the Literature and Genome Browsers. | Tajnšek Š et al. | 2020 | PPAR research |
| 32569264 | The genetic profile of elite youth soccer players and its association with power and speed depends on maturity status. | Murtagh CF et al. | 2020 | PloS one |
| 32866209 | Detection of epistasis between ACTN3 and SNAP-25 with an insight towards gymnastic aptitude identification. | Płóciennik ŁA et al. | 2020 | PloS one |
| 33192589 | No Change - No Gain; The Effect of Age, Sex, Selected Genes and Training on Physiological and Performance Adaptations in Cross-Country Skiing. | Johansen JM et al. | 2020 | Frontiers in physiology |
| 33763108 | Whole Genome Interpretation for a Family of Five. | Corpas M et al. | 2021 | Frontiers in genetics |
| 34400988 | Does the PPARA Intron 7 Gene Variant (rs4253778) Influence Performance in Power/Strength-Oriented Athletes? A Case-Control Replication Study in Three Cohorts of European Gymnasts. | Maciejewska-Skrendo A et al. | 2021 | Journal of human kinetics |
| 35337603 | Advances in sports genomics. | Ahmetov II et al. | 2022 | Advances in clinical chemistry |
| 35363365 | PPARα polymorphisms association with total cholesterol and LDL-C levels in a Mexican population. | Ortega-Meléndez AI et al. | 2022 | European review for medical and pharmacological sciences |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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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.
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.