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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.


Current Build 153

Released July 9, 2019

Homo sapiens
chr11:61785208 (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.

Variation Type
SNV Single Nucleotide Variation
T=0.28029 (35195/125568, TOPMED)
T=0.3156 (24835/78702, PAGE_STUDY)
T=0.2975 (9315/31312, GnomAD) (+ 6 more)
T=0.303 (1517/5008, 1000G)
T=0.361 (1617/4480, Estonian)
T=0.325 (1251/3854, ALSPAC)
T=0.343 (1271/3708, TWINSUK)
T=0.37 (224/600, NorthernSweden)
G=0.16 (34/214, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MYRF : Intron Variant
44 citations
Genomic View
See rs on genome

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 11 NC_000011.10:g.61785208G>T
GRCh37.p13 chr 11 NC_000011.9:g.61552680G>T
MYRF RefSeqGene NG_047038.1:g.37572G>T
Gene: MYRF, myelin regulatory factor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MYRF transcript variant 2 NM_001127392.3:c. N/A Intron Variant
MYRF transcript variant 1 NM_013279.4:c. N/A Intron Variant
MYRF transcript variant X1 XM_005274222.1:c. N/A Intron Variant
MYRF transcript variant X2 XM_005274223.1:c. N/A Intron Variant
MYRF transcript variant X3 XM_005274224.1:c. N/A Intron Variant
MYRF transcript variant X4 XM_005274225.1:c. N/A Intron Variant
MYRF transcript variant X5 XM_005274226.1:c. N/A Intron Variant
MYRF transcript variant X6 XM_005274227.1:c. N/A Intron Variant
MYRF transcript variant X7 XM_005274228.1:c. N/A Intron Variant
MYRF transcript variant X9 XM_011545234.2:c. N/A Intron Variant
MYRF transcript variant X8 XM_024448677.1:c. N/A Intron 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.

Not Reported in ClinVar

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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 G=0.71971 T=0.28029
The PAGE Study Global Study-wide 78702 G=0.6844 T=0.3156
The PAGE Study AfricanAmerican Sub 32516 G=0.9059 T=0.0941
The PAGE Study Mexican Sub 10810 G=0.3747 T=0.6253
The PAGE Study Asian Sub 8318 G=0.548 T=0.452
The PAGE Study PuertoRican Sub 7918 G=0.634 T=0.366
The PAGE Study NativeHawaiian Sub 4534 G=0.371 T=0.629
The PAGE Study Cuban Sub 4230 G=0.707 T=0.293
The PAGE Study Dominican Sub 3828 G=0.750 T=0.250
The PAGE Study CentralAmerican Sub 2450 G=0.409 T=0.591
The PAGE Study SouthAmerican Sub 1982 G=0.392 T=0.608
The PAGE Study NativeAmerican Sub 1260 G=0.606 T=0.394
The PAGE Study SouthAsian Sub 856 G=0.82 T=0.18
gnomAD - Genomes Global Study-wide 31312 G=0.7025 T=0.2975
gnomAD - Genomes European Sub 18846 G=0.6425 T=0.3575
gnomAD - Genomes African Sub 8702 G=0.919 T=0.081
gnomAD - Genomes East Asian Sub 1542 G=0.423 T=0.577
gnomAD - Genomes Other Sub 1086 G=0.649 T=0.351
gnomAD - Genomes American Sub 846 G=0.40 T=0.60
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.69 T=0.31
1000Genomes Global Study-wide 5008 G=0.697 T=0.303
1000Genomes African Sub 1322 G=0.975 T=0.025
1000Genomes East Asian Sub 1008 G=0.433 T=0.567
1000Genomes Europe Sub 1006 G=0.651 T=0.349
1000Genomes South Asian Sub 978 G=0.84 T=0.16
1000Genomes American Sub 694 G=0.41 T=0.59
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.639 T=0.361
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.675 T=0.325
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.657 T=0.343
Northern Sweden ACPOP Study-wide 600 G=0.63 T=0.37
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.16 T=0.84

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= T Note
GRCh38.p12 chr 11 NC_000011.10:g.61785208= NC_000011.10:g.61785208G>T
GRCh37.p13 chr 11 NC_000011.9:g.61552680= NC_000011.9:g.61552680G>T
MYRF RefSeqGene NG_047038.1:g.37572= NG_047038.1:g.37572G>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#.

80 SubSNP, 9 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss232367 Jul 12, 2000 (79)
2 SC_JCM ss815269 Aug 11, 2000 (87)
3 KWOK ss1271902 Oct 04, 2000 (86)
4 KWOK ss2050024 Oct 18, 2000 (87)
5 KWOK ss2067426 Oct 18, 2000 (87)
6 PERLEGEN ss24050018 Sep 20, 2004 (123)
7 ILLUMINA ss66803199 Dec 01, 2006 (127)
8 ILLUMINA ss67186561 Dec 01, 2006 (127)
9 ILLUMINA ss67561795 Dec 01, 2006 (127)
10 ILLUMINA ss70664641 May 26, 2008 (130)
11 ILLUMINA ss71226266 May 17, 2007 (127)
12 ILLUMINA ss75811585 Dec 07, 2007 (129)
13 ILLUMINA ss79091176 Dec 16, 2007 (130)
14 HGSV ss81195481 Dec 16, 2007 (130)
15 KRIBB_YJKIM ss83376818 Dec 16, 2007 (130)
16 1000GENOMES ss110556399 Jan 25, 2009 (130)
17 ILLUMINA ss121798008 Dec 01, 2009 (131)
18 ILLUMINA ss153680112 Dec 01, 2009 (131)
19 GMI ss156384263 Dec 01, 2009 (131)
20 ILLUMINA ss159318725 Dec 01, 2009 (131)
21 ILLUMINA ss170784610 Jul 04, 2010 (132)
22 ILLUMINA ss172832379 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss175157224 Jul 04, 2010 (132)
24 PAGE_STUDY ss181835652 Jul 04, 2010 (132)
25 BUSHMAN ss202784916 Jul 04, 2010 (132)
26 1000GENOMES ss235584885 Jul 15, 2010 (132)
27 1000GENOMES ss242211394 Jul 15, 2010 (132)
28 GMI ss281034516 May 04, 2012 (137)
29 PJP ss291058117 May 09, 2011 (134)
30 ILLUMINA ss410913820 Sep 17, 2011 (135)
31 PAGE_STUDY ss469414414 May 04, 2012 (137)
32 ILLUMINA ss536969752 Sep 08, 2015 (146)
33 TISHKOFF ss562598282 Apr 25, 2013 (138)
34 SSMP ss658108961 Apr 25, 2013 (138)
35 ILLUMINA ss825421694 Apr 01, 2015 (144)
36 ILLUMINA ss832830763 Jul 13, 2019 (153)
37 EVA-GONL ss988587360 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1077777457 Aug 21, 2014 (142)
39 1000GENOMES ss1341524189 Aug 21, 2014 (142)
40 DDI ss1426652692 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1575748676 Apr 01, 2015 (144)
42 EVA_DECODE ss1598249903 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1626720890 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1669714923 Apr 01, 2015 (144)
45 EVA_SVP ss1713258744 Apr 01, 2015 (144)
46 WEILL_CORNELL_DGM ss1931946325 Feb 12, 2016 (147)
47 ILLUMINA ss1959353756 Feb 12, 2016 (147)
48 ILLUMINA ss1959353757 Feb 12, 2016 (147)
49 GENOMED ss1967376894 Jul 19, 2016 (147)
50 JJLAB ss2026719869 Sep 14, 2016 (149)
51 ILLUMINA ss2094790769 Dec 20, 2016 (150)
52 ILLUMINA ss2095022874 Dec 20, 2016 (150)
53 USC_VALOUEV ss2155022421 Dec 20, 2016 (150)
54 HUMAN_LONGEVITY ss2182843040 Dec 20, 2016 (150)
55 TOPMED ss2346279229 Dec 20, 2016 (150)
56 SYSTEMSBIOZJU ss2627833118 Nov 08, 2017 (151)
57 ILLUMINA ss2632840687 Nov 08, 2017 (151)
58 GRF ss2699312113 Nov 08, 2017 (151)
59 GNOMAD ss2900360998 Nov 08, 2017 (151)
60 SWEGEN ss3008196845 Nov 08, 2017 (151)
61 ILLUMINA ss3021341004 Nov 08, 2017 (151)
62 ILLUMINA ss3021341005 Nov 08, 2017 (151)
63 BIOINF_KMB_FNS_UNIBA ss3027158636 Nov 08, 2017 (151)
64 TOPMED ss3146983157 Nov 08, 2017 (151)
65 CSHL ss3349629486 Nov 08, 2017 (151)
66 ILLUMINA ss3626670493 Oct 12, 2018 (152)
67 ILLUMINA ss3637909737 Oct 12, 2018 (152)
68 ILLUMINA ss3638969631 Oct 12, 2018 (152)
69 ILLUMINA ss3639485597 Oct 12, 2018 (152)
70 ILLUMINA ss3642907968 Oct 12, 2018 (152)
71 ILLUMINA ss3651705574 Oct 12, 2018 (152)
72 ILLUMINA ss3651705575 Oct 12, 2018 (152)
73 ILLUMINA ss3651705576 Oct 12, 2018 (152)
74 EGCUT_WGS ss3675535156 Jul 13, 2019 (153)
75 EVA_DECODE ss3691906243 Jul 13, 2019 (153)
76 ILLUMINA ss3725245349 Jul 13, 2019 (153)
77 ACPOP ss3738233441 Jul 13, 2019 (153)
78 EVA ss3749373358 Jul 13, 2019 (153)
79 PAGE_CC ss3771627857 Jul 13, 2019 (153)
80 KHV_HUMAN_GENOMES ss3814717000 Jul 13, 2019 (153)
81 1000Genomes NC_000011.9 - 61552680 Oct 12, 2018 (152)
82 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 61552680 Oct 12, 2018 (152)
83 Genetic variation in the Estonian population NC_000011.9 - 61552680 Oct 12, 2018 (152)
84 gnomAD - Genomes NC_000011.9 - 61552680 Jul 13, 2019 (153)
85 Northern Sweden NC_000011.9 - 61552680 Jul 13, 2019 (153)
86 The PAGE Study NC_000011.10 - 61785208 Jul 13, 2019 (153)
87 TopMed NC_000011.10 - 61785208 Oct 12, 2018 (152)
88 UK 10K study - Twins NC_000011.9 - 61552680 Oct 12, 2018 (152)
89 A Vietnamese Genetic Variation Database NC_000011.9 - 61552680 Jul 13, 2019 (153)

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)
rs642460 Oct 23, 2000 (87)
rs61238994 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81195481, ss110556399, ss175157224, ss202784916, ss281034516, ss291058117, ss825421694, ss1598249903, ss1713258744, ss3638969631, ss3639485597, ss3642907968 NC_000011.8:61309255:G:T NC_000011.10:61785207:G:T (self)
54055302, 30017675, 21273404, 147608326, 11518306, 30017675, 6664461, ss235584885, ss242211394, ss536969752, ss562598282, ss658108961, ss832830763, ss988587360, ss1077777457, ss1341524189, ss1426652692, ss1575748676, ss1626720890, ss1669714923, ss1931946325, ss1959353756, ss1959353757, ss1967376894, ss2026719869, ss2094790769, ss2095022874, ss2155022421, ss2346279229, ss2627833118, ss2632840687, ss2699312113, ss2900360998, ss3008196845, ss3021341004, ss3021341005, ss3349629486, ss3626670493, ss3637909737, ss3651705574, ss3651705575, ss3651705576, ss3675535156, ss3738233441, ss3749373358 NC_000011.9:61552679:G:T NC_000011.10:61785207:G:T (self)
849326, 64634739, ss2182843040, ss3027158636, ss3146983157, ss3691906243, ss3725245349, ss3771627857, ss3814717000 NC_000011.10:61785207:G:T NC_000011.10:61785207:G:T (self)
ss232367, ss815269, ss1271902, ss2050024, ss2067426, ss24050018, ss66803199, ss67186561, ss67561795, ss70664641, ss71226266, ss75811585, ss79091176, ss83376818, ss121798008, ss153680112, ss156384263, ss159318725, ss170784610, ss172832379, ss181835652, ss410913820, ss469414414 NT_167190.1:6858474:G:T NC_000011.10:61785207:G:T (self)

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

44 citations for rs174537
PMID Title Author Year Journal
19060910 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Sabatti C et al. 2009 Nature genetics
19148276 Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. Tanaka T et al. 2009 PLoS genetics
19798445 Genetic determinants of circulating sphingolipid concentrations in European populations. Hicks AA et al. 2009 PLoS genetics
19996744 Fatty acid interactions with genetic polymorphisms for cardiovascular disease. Smith CE et al. 2010 Current opinion in clinical nutrition and metabolic care
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
21115529 Genetics and genomics of human ageing. Wheeler HE et al. 2011 Philosophical transactions of the Royal Society of London. Series B, Biological sciences
21383846 Genetic variants of the FADS gene cluster and ELOVL gene family, colostrums LC-PUFA levels, breastfeeding, and child cognition. Morales E et al. 2011 PloS one
21421807 Effects of 34 risk loci for type 2 diabetes or hyperglycemia on lipoprotein subclasses and their composition in 6,580 nondiabetic Finnish men. Stančáková A et al. 2011 Diabetes
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
21599946 The impact of FADS genetic variants on ω6 polyunsaturated fatty acid metabolism in African Americans. Mathias RA et al. 2011 BMC genetics
21733300 Differences in arachidonic acid levels and fatty acid desaturase (FADS) gene variants in African Americans and European Americans with diabetes or the metabolic syndrome. Sergeant S et al. 2012 The British journal of nutrition
22073310 Association of genetic loci with blood lipids in the Chinese population. Zhang Z et al. 2011 PloS one
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
22563332 Fatty Acid desaturase gene variants, cardiovascular risk factors, and myocardial infarction in the costa rica study. Aslibekyan S et al. 2012 Frontiers in genetics
23028684 Adaptive evolution of the FADS gene cluster within Africa. Mathias RA et al. 2012 PloS one
23160180 Genetic variation at the FADS1-FADS2 gene locus influences delta-5 desaturase activity and LC-PUFA proportions after fish oil supplement. Al-Hilal M et al. 2013 Journal of lipid research
23285256 Prostatic alpha-linolenic acid (ALA) is positively associated with aggressive prostate cancer: a relationship which may depend on genetic variation in ALA metabolism. Azrad M et al. 2012 PloS one
24842322 DNA methylation in an enhancer region of the FADS cluster is associated with FADS activity in human liver. Howard TD et al. 2014 PloS one
24853887 Diet-gene interactions and PUFA metabolism: a potential contributor to health disparities and human diseases. Chilton FH et al. 2014 Nutrients
24936800 The role of FADS1/2 polymorphisms on cardiometabolic markers and fatty acid profiles in young adults consuming fish oil supplements. Roke K et al. 2014 Nutrients
24962583 Relationship between a common variant in the fatty acid desaturase (FADS) cluster and eicosanoid generation in humans. Hester AG et al. 2014 The Journal of biological chemistry
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
26885902 [Association between FADS1 rs174537 polymorphism and serum proteins in patients with aggressive periodontitis]. Song WL et al. 2016 Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences
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
27004414 Polymorphisms in FADS1 and FADS2 alter plasma fatty acids and desaturase levels in type 2 diabetic patients with coronary artery disease. Li SW et al. 2016 Journal of translational medicine
27005424 Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease. Orlando G et al. 2016 Human molecular genetics
27146020 Colorectal cancer risk genes are functionally enriched in regulatory pathways. Lu X et al. 2016 Scientific reports
27197070 Impact of Genetic and Epigenetic Variations Within the FADS Cluster on the Composition and Metabolism of Polyunsaturated Fatty Acids in Prostate Cancer. Cui T et al. 2016 The Prostate
28084440 Common risk variants for colorectal cancer: an evaluation of associations with age at cancer onset. Song N et al. 2017 Scientific reports
28333262 Selection in Europeans on Fatty Acid Desaturases Associated with Dietary Changes. Buckley MT et al. 2017 Molecular biology and evolution
28552045 Erythrocyte polyunsaturated fatty acid composition is associated with depression and FADS genotype in Caucasians. Cribb L et al. 2018 Nutritional neuroscience
28577571 Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. Paththinige CS et al. 2017 Lipids in health and disease
28598979 Association of maternal weight with FADS and ELOVL genetic variants and fatty acid levels- The PREOBE follow-up. de la Garza Puentes A et al. 2017 PloS one
28929400 Can polymorphisms in the fatty acid desaturase (FADS) gene cluster alter the effects of fish oil supplementation on plasma and erythrocyte fatty acid profiles? An exploratory study. Meldrum SJ et al. 2018 European journal of nutrition
28957329 Uncovering the DNA methylation landscape in key regulatory regions within the FADS cluster. Rahbar E et al. 2017 PloS one
29080057 Sex Differences in Blood HDL-c, the Total Cholesterol/HDL-c Ratio, and Palmitoleic Acid are Not Associated with Variants in Common Candidate Genes. Klingel SL et al. 2017 Lipids
29258461 Effects of interactions between common genetic variants and smoking on colorectal cancer. Song N et al. 2017 BMC cancer
29636834 Allele-specific methylation in the <i>FADS</i> genomic region in DNA from human saliva, CD4+ cells, and total leukocytes. Rahbar E et al. 2018 Clinical epigenetics
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
30082751 FADS1 genotype is distinguished by human subcutaneous adipose tissue fatty acids, but not inflammatory gene expression. Klingel SL et al. 2019 International journal of obesity (2005)
30588120 Arachidonic acid and colorectal adenoma risk: a Mendelian randomization study. Isom CA et al. 2019 Clinical epidemiology

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