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.
rs174575
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:61834531 (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
- C>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.249647 (66079/264690, TOPMED)G=0.247623 (34685/140072, GnomAD)G=0.24715 (19447/78686, PAGE_STUDY) (+ 18 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- FADS2 : Intron Variant
- Publications
- 37 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.
Release Version: 20201027095038
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 20066 | C=0.75551 | G=0.24449 |
| European | Sub | 15434 | C=0.75833 | G=0.24167 |
| African | Sub | 2946 | C=0.7699 | G=0.2301 |
| African Others | Sub | 114 | C=0.798 | G=0.202 |
| African American | Sub | 2832 | C=0.7687 | G=0.2313 |
| Asian | Sub | 112 | C=0.839 | G=0.161 |
| East Asian | Sub | 86 | C=0.85 | G=0.15 |
| Other Asian | Sub | 26 | C=0.81 | G=0.19 |
| Latin American 1 | Sub | 146 | C=0.699 | G=0.301 |
| Latin American 2 | Sub | 610 | C=0.621 | G=0.379 |
| South Asian | Sub | 98 | C=0.82 | G=0.18 |
| Other | Sub | 720 | C=0.740 | G=0.260 |
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=0.750353 | G=0.249647 |
| gnomAD - Genomes | Global | Study-wide | 140072 | C=0.752377 | G=0.247623 |
| gnomAD - Genomes | European | Sub | 75864 | C=0.74722 | G=0.25278 |
| gnomAD - Genomes | African | Sub | 41960 | C=0.77569 | G=0.22431 |
| gnomAD - Genomes | American | Sub | 13648 | C=0.68633 | G=0.31367 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=0.7671 | G=0.2329 |
| gnomAD - Genomes | East Asian | Sub | 3126 | C=0.8468 | G=0.1532 |
| gnomAD - Genomes | Other | Sub | 2150 | C=0.7386 | G=0.2614 |
| The PAGE Study | Global | Study-wide | 78686 | C=0.75285 | G=0.24715 |
| The PAGE Study | AfricanAmerican | Sub | 32512 | C=0.77196 | G=0.22804 |
| The PAGE Study | Mexican | Sub | 10808 | C=0.63212 | G=0.36788 |
| The PAGE Study | Asian | Sub | 8318 | C=0.8716 | G=0.1284 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.7609 | G=0.2391 |
| The PAGE Study | NativeHawaiian | Sub | 4532 | C=0.7776 | G=0.2224 |
| The PAGE Study | Cuban | Sub | 4228 | C=0.7486 | G=0.2514 |
| The PAGE Study | Dominican | Sub | 3828 | C=0.7552 | G=0.2448 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.6192 | G=0.3808 |
| The PAGE Study | SouthAmerican | Sub | 1976 | C=0.6437 | G=0.3563 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.7167 | G=0.2833 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.890 | G=0.110 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.88690 | G=0.11310 |
| Allele Frequency Aggregator | Total | Global | 20066 | C=0.75551 | G=0.24449 |
| Allele Frequency Aggregator | European | Sub | 15434 | C=0.75833 | G=0.24167 |
| Allele Frequency Aggregator | African | Sub | 2946 | C=0.7699 | G=0.2301 |
| Allele Frequency Aggregator | Other | Sub | 720 | C=0.740 | G=0.260 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=0.621 | G=0.379 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=0.699 | G=0.301 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=0.839 | G=0.161 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=0.82 | G=0.18 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | C=0.88937 | G=0.11063 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.7837 | G=0.2163 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.7872 | G=0.2128 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.7417 | G=0.2583 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.8993 | G=0.1007 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.8299 | G=0.1701 |
| 1000Genomes_30x | American | Sub | 980 | C=0.635 | G=0.365 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.7907 | G=0.2093 |
| 1000Genomes | African | Sub | 1322 | C=0.7905 | G=0.2095 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.8343 | G=0.1657 |
| 1000Genomes | Europe | Sub | 1006 | C=0.7445 | G=0.2555 |
| 1000Genomes | South Asian | Sub | 978 | C=0.902 | G=0.098 |
| 1000Genomes | American | Sub | 694 | C=0.638 | G=0.362 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.7975 | G=0.2025 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.7392 | G=0.2608 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.7203 | G=0.2797 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.9096 | G=0.0904 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.724 | G=0.276 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | C=0.901 | G=0.099 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | C=0.901 | G=0.099 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.780 | G=0.220 |
| HapMap | Global | Study-wide | 328 | C=0.768 | G=0.232 |
| HapMap | African | Sub | 120 | C=0.725 | G=0.275 |
| HapMap | American | Sub | 120 | C=0.717 | G=0.283 |
| HapMap | Asian | Sub | 88 | C=0.90 | G=0.10 |
| SGDP_PRJ | Global | Study-wide | 228 | C=0.417 | G=0.583 |
| Qatari | Global | Study-wide | 216 | C=0.722 | G=0.278 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | C=0.764 | G=0.236 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.72 | G=0.28 |
| Siberian | Global | Study-wide | 16 | C=0.44 | G=0.56 |
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.p14 chr 11 | NC_000011.10:g.61834531C>G |
| GRCh37.p13 chr 11 | NC_000011.9:g.61602003C>G |
| LOC112081406 genomic region | NG_056467.1:g.75C>G |
Gene: FADS2, fatty acid desaturase 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| FADS2 transcript variant 2 |
NM_001281501.1:c.142-3247… NM_001281501.1:c.142-3247C>G |
N/A | Intron Variant |
| FADS2 transcript variant 3 |
NM_001281502.1:c.115-3247… NM_001281502.1:c.115-3247C>G |
N/A | Intron Variant |
| FADS2 transcript variant 1 | NM_004265.4:c.208-3247C>G | N/A | Intron Variant |
| FADS2 transcript variant X1 |
XM_047427889.1:c.208-3247… XM_047427889.1:c.208-3247C>G |
N/A | Intron 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:
1259603
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV001683904.1 | not provided | Benign |
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.p14 chr 11 | NC_000011.10:g.61834531= | NC_000011.10:g.61834531C>G |
| GRCh37.p13 chr 11 | NC_000011.9:g.61602003= | NC_000011.9:g.61602003C>G |
| LOC112081406 genomic region | NG_056467.1:g.75= | NG_056467.1:g.75C>G |
| FADS2 transcript variant 2 | NM_001281501.1:c.142-3247= | NM_001281501.1:c.142-3247C>G |
| FADS2 transcript variant 3 | NM_001281502.1:c.115-3247= | NM_001281502.1:c.115-3247C>G |
| FADS2 transcript variant 1 | NM_004265.3:c.208-3247= | NM_004265.3:c.208-3247C>G |
| FADS2 transcript variant 1 | NM_004265.4:c.208-3247= | NM_004265.4:c.208-3247C>G |
| FADS2 transcript variant X1 | XM_047427889.1:c.208-3247= | XM_047427889.1:c.208-3247C>G |
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#.
79 SubSNP,
21 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | KWOK | ss232411 | Jul 12, 2000 (79) |
| 2 | SC_JCM | ss860402 | Aug 11, 2000 (85) |
| 3 | KWOK | ss1271946 | Oct 04, 2000 (86) |
| 4 | TSC-CSHL | ss1314266 | Oct 04, 2000 (86) |
| 5 | KWOK | ss2067470 | Oct 18, 2000 (87) |
| 6 | KWOK | ss2070590 | Oct 18, 2000 (87) |
| 7 | BCM_SSAHASNP | ss10663635 | Jul 11, 2003 (116) |
| 8 | CSHL-HAPMAP | ss19926651 | Feb 27, 2004 (120) |
| 9 | PERLEGEN | ss24504741 | Sep 20, 2004 (123) |
| 10 | ABI | ss38764803 | Mar 15, 2006 (126) |
| 11 | BCMHGSC_JDW | ss88612940 | Mar 24, 2008 (129) |
| 12 | 1000GENOMES | ss110556613 | Jan 25, 2009 (130) |
| 13 | ENSEMBL | ss132593624 | Dec 01, 2009 (131) |
| 14 | GMI | ss156384491 | Dec 01, 2009 (131) |
| 15 | ILLUMINA | ss160444299 | Dec 01, 2009 (131) |
| 16 | 1000GENOMES | ss211142104 | Jul 14, 2010 (132) |
| 17 | 1000GENOMES | ss225274494 | Jul 14, 2010 (132) |
| 18 | 1000GENOMES | ss235584947 | Jul 15, 2010 (132) |
| 19 | 1000GENOMES | ss242211439 | Jul 15, 2010 (132) |
| 20 | GMI | ss281034567 | May 04, 2012 (137) |
| 21 | ILLUMINA | ss410913843 | Sep 17, 2011 (135) |
| 22 | ILLUMINA | ss480993262 | Sep 08, 2015 (146) |
| 23 | TISHKOFF | ss562598394 | Apr 25, 2013 (138) |
| 24 | SSMP | ss658109111 | Apr 25, 2013 (138) |
| 25 | EVA-GONL | ss988587588 | Aug 21, 2014 (142) |
| 26 | JMKIDD_LAB | ss1077777562 | Aug 21, 2014 (142) |
| 27 | 1000GENOMES | ss1341525267 | Aug 21, 2014 (142) |
| 28 | DDI | ss1426652741 | Apr 01, 2015 (144) |
| 29 | EVA_GENOME_DK | ss1575748746 | Apr 01, 2015 (144) |
| 30 | EVA_DECODE | ss1598250166 | Apr 01, 2015 (144) |
| 31 | EVA_UK10K_ALSPAC | ss1626721490 | Apr 01, 2015 (144) |
| 32 | EVA_UK10K_TWINSUK | ss1669715523 | Apr 01, 2015 (144) |
| 33 | HAMMER_LAB | ss1806843092 | Sep 08, 2015 (146) |
| 34 | WEILL_CORNELL_DGM | ss1931946547 | Feb 12, 2016 (147) |
| 35 | ILLUMINA | ss1959353837 | Feb 12, 2016 (147) |
| 36 | GENOMED | ss1967376931 | Jul 19, 2016 (147) |
| 37 | JJLAB | ss2026719973 | Sep 14, 2016 (149) |
| 38 | ILLUMINA | ss2094790775 | Dec 20, 2016 (150) |
| 39 | ILLUMINA | ss2095022882 | Dec 20, 2016 (150) |
| 40 | USC_VALOUEV | ss2155022544 | Dec 20, 2016 (150) |
| 41 | HUMAN_LONGEVITY | ss2182845567 | Dec 20, 2016 (150) |
| 42 | ILLUMINA | ss2632840739 | Nov 08, 2017 (151) |
| 43 | GRF | ss2699312242 | Nov 08, 2017 (151) |
| 44 | GNOMAD | ss2900364411 | Nov 08, 2017 (151) |
| 45 | SWEGEN | ss3008197265 | Nov 08, 2017 (151) |
| 46 | ILLUMINA | ss3021341085 | Nov 08, 2017 (151) |
| 47 | BIOINF_KMB_FNS_UNIBA | ss3027158678 | Nov 08, 2017 (151) |
| 48 | CSHL | ss3349629602 | Nov 08, 2017 (151) |
| 49 | ILLUMINA | ss3636141688 | Oct 12, 2018 (152) |
| 50 | ILLUMINA | ss3651705665 | Oct 12, 2018 (152) |
| 51 | ILLUMINA | ss3651705666 | Oct 12, 2018 (152) |
| 52 | EGCUT_WGS | ss3675535581 | Jul 13, 2019 (153) |
| 53 | EVA_DECODE | ss3691906852 | Jul 13, 2019 (153) |
| 54 | ILLUMINA | ss3725245409 | Jul 13, 2019 (153) |
| 55 | ACPOP | ss3738233620 | Jul 13, 2019 (153) |
| 56 | EVA | ss3749373685 | Jul 13, 2019 (153) |
| 57 | PAGE_CC | ss3771627908 | Jul 13, 2019 (153) |
| 58 | KHV_HUMAN_GENOMES | ss3814717230 | Jul 13, 2019 (153) |
| 59 | EVA | ss3832660228 | Apr 26, 2020 (154) |
| 60 | EVA | ss3839887995 | Apr 26, 2020 (154) |
| 61 | EVA | ss3845367318 | Apr 26, 2020 (154) |
| 62 | SGDP_PRJ | ss3876387441 | Apr 26, 2020 (154) |
| 63 | KRGDB | ss3924750748 | Apr 26, 2020 (154) |
| 64 | EVA | ss3984651458 | Apr 27, 2021 (155) |
| 65 | TOPMED | ss4887432136 | Apr 27, 2021 (155) |
| 66 | TOMMO_GENOMICS | ss5202258624 | Apr 27, 2021 (155) |
| 67 | 1000G_HIGH_COVERAGE | ss5287636326 | Oct 16, 2022 (156) |
| 68 | EVA | ss5399965746 | Oct 16, 2022 (156) |
| 69 | HUGCELL_USP | ss5482792618 | Oct 16, 2022 (156) |
| 70 | EVA | ss5510387840 | Oct 16, 2022 (156) |
| 71 | 1000G_HIGH_COVERAGE | ss5583472125 | Oct 16, 2022 (156) |
| 72 | SANFORD_IMAGENETICS | ss5624276121 | Oct 16, 2022 (156) |
| 73 | SANFORD_IMAGENETICS | ss5651349681 | Oct 16, 2022 (156) |
| 74 | TOMMO_GENOMICS | ss5750218476 | Oct 16, 2022 (156) |
| 75 | YY_MCH | ss5812468507 | Oct 16, 2022 (156) |
| 76 | EVA | ss5836745883 | Oct 16, 2022 (156) |
| 77 | EVA | ss5850004155 | Oct 16, 2022 (156) |
| 78 | EVA | ss5920225368 | Oct 16, 2022 (156) |
| 79 | EVA | ss5942663402 | Oct 16, 2022 (156) |
| 80 | 1000Genomes | NC_000011.9 - 61602003 | Oct 12, 2018 (152) |
| 81 | 1000Genomes_30x | NC_000011.10 - 61834531 | Oct 16, 2022 (156) |
| 82 | The Avon Longitudinal Study of Parents and Children | NC_000011.9 - 61602003 | Oct 12, 2018 (152) |
| 83 | Genetic variation in the Estonian population | NC_000011.9 - 61602003 | Oct 12, 2018 (152) |
| 84 | The Danish reference pan genome | NC_000011.9 - 61602003 | Apr 26, 2020 (154) |
| 85 | gnomAD - Genomes | NC_000011.10 - 61834531 | Apr 27, 2021 (155) |
| 86 | Genome of the Netherlands Release 5 | NC_000011.9 - 61602003 | Apr 26, 2020 (154) |
| 87 | HapMap | NC_000011.10 - 61834531 | Apr 26, 2020 (154) |
| 88 | KOREAN population from KRGDB | NC_000011.9 - 61602003 | Apr 26, 2020 (154) |
| 89 | Northern Sweden | NC_000011.9 - 61602003 | Jul 13, 2019 (153) |
| 90 | The PAGE Study | NC_000011.10 - 61834531 | Jul 13, 2019 (153) |
| 91 | CNV burdens in cranial meningiomas | NC_000011.9 - 61602003 | Apr 27, 2021 (155) |
| 92 | Qatari | NC_000011.9 - 61602003 | Apr 26, 2020 (154) |
| 93 | SGDP_PRJ | NC_000011.9 - 61602003 | Apr 26, 2020 (154) |
| 94 | Siberian | NC_000011.9 - 61602003 | Apr 26, 2020 (154) |
| 95 | 8.3KJPN | NC_000011.9 - 61602003 | Apr 27, 2021 (155) |
| 96 | 14KJPN | NC_000011.10 - 61834531 | Oct 16, 2022 (156) |
| 97 | TopMed | NC_000011.10 - 61834531 | Apr 27, 2021 (155) |
| 98 | UK 10K study - Twins | NC_000011.9 - 61602003 | Oct 12, 2018 (152) |
| 99 | A Vietnamese Genetic Variation Database | NC_000011.9 - 61602003 | Jul 13, 2019 (153) |
| 100 | ALFA | NC_000011.10 - 61834531 | Apr 27, 2021 (155) |
| 101 | ClinVar | RCV001683904.1 | Oct 16, 2022 (156) |
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) |
|---|---|
| rs686723 | Sep 19, 2000 (85) |
| rs17763526 | Oct 08, 2004 (123) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss88612940, ss110556613, ss160444299, ss211142104, ss281034567, ss410913843, ss1598250166 | NC_000011.8:61358578:C:G | NC_000011.10:61834530:C:G | (self) |
| 54056398, 30018314, 21273829, 2593390, 13396503, 31928142, 11518485, 200936, 13988477, 28404421, 7538898, 60227931, 30018314, 6664564, ss225274494, ss235584947, ss242211439, ss480993262, ss562598394, ss658109111, ss988587588, ss1077777562, ss1341525267, ss1426652741, ss1575748746, ss1626721490, ss1669715523, ss1806843092, ss1931946547, ss1959353837, ss1967376931, ss2026719973, ss2094790775, ss2095022882, ss2155022544, ss2632840739, ss2699312242, ss2900364411, ss3008197265, ss3021341085, ss3349629602, ss3636141688, ss3651705665, ss3651705666, ss3675535581, ss3738233620, ss3749373685, ss3832660228, ss3839887995, ss3876387441, ss3924750748, ss3984651458, ss5202258624, ss5399965746, ss5510387840, ss5624276121, ss5651349681, ss5836745883, ss5942663402 | NC_000011.9:61602002:C:G | NC_000011.10:61834530:C:G | (self) |
| RCV001683904.1, 70998060, 381537700, 623613, 849377, 84055580, 102977792, 13215084216, ss2182845567, ss3027158678, ss3691906852, ss3725245409, ss3771627908, ss3814717230, ss3845367318, ss4887432136, ss5287636326, ss5482792618, ss5583472125, ss5750218476, ss5812468507, ss5850004155, ss5920225368 | NC_000011.10:61834530:C:G | NC_000011.10:61834530:C:G | (self) |
| ss10663635 | NT_033903.5:6703269:C:G | NC_000011.10:61834530:C:G | (self) |
| ss19926651 | NT_033903.6:6775044:C:G | NC_000011.10:61834530:C:G | (self) |
| ss232411, ss860402, ss1271946, ss1314266, ss2067470, ss2070590, ss24504741, ss38764803, ss132593624, ss156384491 | NT_167190.1:6907797:C:G | NC_000011.10:61834530: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.
37
citations for rs174575
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18936223 | Genetic variants of the FADS1 FADS2 gene cluster are associated with altered (n-6) and (n-3) essential fatty acids in plasma and erythrocyte phospholipids in women during pregnancy and in breast milk during lactation. | Xie L et al. | 2008 | The Journal of nutrition |
| 20335541 | FADS1 FADS2 gene variants modify the association between fish intake and the docosahexaenoic acid proportions in human milk. | Moltó-Puigmartí C et al. | 2010 | The American journal of clinical nutrition |
| 20395685 | Association of fatty acid desaturase gene polymorphisms with blood lipid essential fatty acids and perinatal depression among Canadian women: a pilot study. | Xie L et al. | 2009 | Journal of nutrigenetics and nutrigenomics |
| 20562440 | FADS genetic variants and omega-6 polyunsaturated fatty acid metabolism in a homogeneous island population. | Mathias RA et al. | 2010 | Journal of lipid research |
| 20565855 | Genetic variation in lipid desaturases and its impact on the development of human disease. | Merino DM et al. | 2010 | Lipids in health and disease |
| 21040914 | FADS gene polymorphisms in Koreans: association with ω6 polyunsaturated fatty acids in serum phospholipids, lipid peroxides, and coronary artery disease. | Kwak JH et al. | 2011 | Atherosclerosis |
| 21156270 | Cognitive function in adolescence: testing for interactions between breast-feeding and FADS2 polymorphisms. | Martin NW et al. | 2011 | Journal of the American Academy of Child and Adolescent Psychiatry |
| 21513558 | Fatty acid desaturase (FADS) gene polymorphisms and insulin resistance in association with serum phospholipid polyunsaturated fatty acid composition in healthy Korean men: cross-sectional study. | Kim OY et al. | 2011 | Nutrition & metabolism |
| 21793953 | FADS gene variants modulate the effect of dietary fatty acid intake on allergic diseases in children. | Standl M et al. | 2011 | Clinical and experimental allergy |
| 22194195 | Polyunsaturated fatty acid levels in blood during pregnancy, at birth and at 7 years: their associations with two common FADS2 polymorphisms. | Steer CD et al. | 2012 | Human molecular genetics |
| 22629455 | FADS1 FADS2 gene cluster, PUFA intake and blood lipids in children: results from the GINIplus and LISAplus studies. | Standl M et al. | 2012 | PloS one |
| 23636240 | FADS genotype and diet are important determinants of DHA status: a cross-sectional study in Danish infants. | Harsløf LB et al. | 2013 | The American journal of clinical nutrition |
| 23737301 | A prospective study of the effects of breastfeeding and FADS2 polymorphisms on cognition and hyperactivity/attention problems. | Groen-Blokhuis MM et al. | 2013 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 24643342 | Effects on metabolic markers are modified by PPARG2 and COX2 polymorphisms in infants randomized to fish oil. | Harsløf LB et al. | 2014 | Genes & nutrition |
| 25080457 | FADS single-nucleotide polymorphisms are associated with behavioral outcomes in children, and the effect varies between sexes and is dependent on PPAR genotype. | Jensen HA et al. | 2014 | The American journal of clinical nutrition |
| 26439440 | Genetic and epigenetic transgenerational implications related to omega-3 fatty acids. Part I: maternal FADS2 genotype and DNA methylation correlate with polyunsaturated fatty acid status in toddlers: an exploratory analysis. | Lupu DS et al. | 2015 | Nutrition research (New York, N.Y.) |
| 26455892 | Genetic and epigenetic transgenerational implications related to omega-3 fatty acids. Part II: maternal FADS2 rs174575 genotype and DNA methylation predict toddler cognitive performance. | Cheatham CL et al. | 2015 | Nutrition research (New York, N.Y.) |
| 26474818 | Genetic variation in FADS genes is associated with maternal long-chain PUFA status but not with cognitive development of infants in a high fish-eating observational study. | Yeates AJ et al. | 2015 | Prostaglandins, leukotrienes, and essential fatty acids |
| 26742060 | DHA Effects in Brain Development and Function. | Lauritzen L et al. | 2016 | Nutrients |
| 26891335 | Cancer Risk and Eicosanoid Production: Interaction between the Protective Effect of Long Chain Omega-3 Polyunsaturated Fatty Acid Intake and Genotype. | Lenihan-Geels G et al. | 2016 | Journal of clinical medicine |
| 26950146 | Impact of Genotype on EPA and DHA Status and Responsiveness to Increased Intakes. | Minihane AM et al. | 2016 | Nutrients |
| 27188529 | Positive Selection on a Regulatory Insertion-Deletion Polymorphism in FADS2 Influences Apparent Endogenous Synthesis of Arachidonic Acid. | Kothapalli KS et al. | 2016 | Molecular biology and evolution |
| 28162103 | A study of associations between early DHA status and fatty acid desaturase (FADS) SNP and developmental outcomes in children of obese mothers. | Andersen KR et al. | 2017 | The British journal of nutrition |
| 28237083 | Association of the FADS gene cluster with coronary artery disease and plasma lipid concentrations in the northern Chinese Han population. | Wu Y et al. | 2017 | Prostaglandins, leukotrienes, and essential fatty acids |
| 28259851 | Study protocol to investigate the environmental and genetic aetiology of atopic dermatitis: the Indonesian Prospective Study of Atopic Dermatitis in Infants (ISADI). | Tanjung C et al. | 2017 | BMJ open |
| 28552045 | Erythrocyte polyunsaturated fatty acid composition is associated with depression and FADS genotype in Caucasians. | Cribb L et al. | 2018 | Nutritional neuroscience |
| 28555039 | FADS Gene Polymorphisms, Fatty Acid Desaturase Activities, and HDL-C in Type 2 Diabetes. | Huang MC et al. | 2017 | International journal of environmental research and public health |
| 30050886 | Association of Polymorphism in Fatty Acid Desaturase Gene with the Risk of Type 2 Diabetes in Iranian Population. | Mansouri V et al. | 2018 | Advanced biomedical research |
| 30541029 | Effect modification of FADS2 polymorphisms on the association between breastfeeding and intelligence: results from a collaborative meta-analysis. | Hartwig FP et al. | 2019 | International journal of epidemiology |
| 31568926 | Maternal polymorphisms in the FADS1 and FADS2 genes modify the association between PUFA ingestion and plasma concentrations of omega-3 polyunsaturated fatty acids. | Carvalho GQ et al. | 2019 | Prostaglandins, leukotrienes, and essential fatty acids |
| 31589250 | Human milk fatty acid composition is associated with dietary, genetic, sociodemographic, and environmental factors in the CHILD Cohort Study. | Miliku K et al. | 2019 | The American journal of clinical nutrition |
| 32127356 | Risk SNP-Mediated Enhancer-Promoter Interaction Drives Colorectal Cancer through Both FADS2 and AP002754.2. | Tian J et al. | 2020 | Cancer research |
| 32127447 | Collaborative Cross Mice Yield Genetic Modifiers for Pseudomonas aeruginosa Infection in Human Lung Disease. | Lorè NI et al. | 2020 | mBio |
| 32433731 | Maternal Long-Chain Polyunsaturated Fatty Acid Status, Methylmercury Exposure, and Birth Outcomes in a High-Fish-Eating Mother-Child Cohort. | Yeates AJ et al. | 2020 | The Journal of nutrition |
| 33526157 | Maternal and child fatty acid desaturase genotype as determinants of cord blood long-chain PUFA (LCPUFA) concentrations in the Seychelles Child Development Study. | Conway MC et al. | 2021 | The British journal of nutrition |
| 34394238 | Association of FADS2 rs174575 gene polymorphism and insulin resistance in type 2 diabetes mellitus. | Shetty SS et al. | 2020 | African health sciences |
| 34543890 | Maternal FADS2 single nucleotide polymorphism modified the impact of prenatal docosahexaenoic acid (DHA) supplementation on child neurodevelopment at 5 years: Follow-up of a randomized clinical trial. | Gonzalez Casanova I et al. | 2021 | Clinical nutrition (Edinburgh, Scotland) |
Help
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
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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.
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.