CHROMOSOME 1 PARK7 1p36.23 GENE VIEW PARK7 · 1p36.23 1p37 1p35 rs3766606 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs3766606 G / T · PARK7 · 1p36.23 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T G Guanine — reference allele T Thymine — variant allele genetics.jdge.cc

rs3766606

Gene: PARK7 — Parkinsonism Associated Deglycase Chr 1:7962137 1p36.23 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.821031T 0.178969GG 0.677673GT/TG 0.286715TT 0.035612pop=513,032
African G 0.666T 0.334GG 0.444553GT/TG 0.442897TT 0.11255pop=53,132
African American G 0.66769T 0.33231GG 0.446743GT/TG 0.441903TT 0.111354pop=51,242
African Others G 0.6201T 0.3799GG 0.385185GT/TG 0.469841TT 0.144974pop=1,890
Asian G 0.93955T 0.06045GG 0.884519GT/TG 0.110056TT 0.005425pop=10,322
East Asian G 0.9376T 0.0624GG 0.880654GT/TG 0.1139TT 0.005446pop=8,446
European G 0.835837T 0.164163GG 0.698876GT/TG 0.273922TT 0.027202pop=414,308
Latin American 1 G 0.8039T 0.1961GG 0.651104GT/TG 0.305506TT 0.04339pop=7,882
Latin American 2 G 0.88156T 0.11844GG 0.777546GT/TG 0.208029TT 0.014425pop=11,508
Other G 0.83846T 0.16154GG 0.706881GT/TG 0.263158TT 0.029962pop=15,086
Other Asian G 0.9483T 0.0517GG 0.901919GT/TG 0.092751TT 0.00533pop=1,876
South Asian G 0.89T 0.11GG 0.785894GT/TG 0.209068TT 0.005038pop=794

Studies17

Unread Studies17
1
PID
Despite substantial advances in Parkinson's disease genomics, Latin American populations remain underrepresented in global genetic studies, limiting the generalizability of risk estimates and biological inference. Mexico, characterized by complex admixture patterns, represents a critical setting for evaluating population-level genetic variation associated with Parkinson's disease...
2
PID
No pre-treatment predictors fulfilled the criteria of being an appropriate predictor of response/non-response. This was due to high RoB, conflicting results and a large heterogeneity between the studies. Future studies must be well-designed and follow strict protocols to produce robust results.
3
Infectious diseases have impacted human populations throughout history, with increasing frequency and devastation as societies started living in larger groups in closer proximity. Well-…
4
Mitochondria play a central role in the pathophysiology of inflammatory bowel disease (IBD) and colorectal cancer (CRC). The maintenance of mitochondrial function is necessary for a …
5
La enfermedad de Parkinson (EP), es un trastorno neurodegenerativo incurable heterogéneo, frecuente, cuya prevalencia aumenta con la edad1. Se caracteriza por presentar …
6
… rs13312, a variant in the 3′-untranslated region of the ubiquitin-specific protease 24 gene (USP24), associated with (PARK10) 85,86 , a susceptibility locus for PD; rs3766606, an …
7
The joint effects of common variants in genomic regions containing susceptibility loci for inflammatory bowel disease and chronic pancreatitis are associated with PDAC and may …
8
… Interestingly, a recent cross-phenotype study has identified an intronic SNP rs3766606 in PARK7 shared by psoriasis (risk), CD and UC (protective). Similar to LRRK2, PARK7 is a …
9
The overall aim of this PhD is to use a multidisciplinary approach to determine the function of Ulcerative Colitis (UC) associated SNPs, to help understand the role of SNPs in the …
10
PID
Systems genomics is a relatively new discipline that involves the study of biological systems at different levels of organization, including genetics, epigenomics, transcriptomics, proteomics, metabolomics and metagenomics. The field of human genomics has rapidly progressed since the initial sequencing of the human genome, with the completion of projects such as Encyclopaedia for DNA Elements (ENCODE), International HapMap, the Epigenome Roadmap and 1000 Genomes. The rapid progress in this area has largely been driven by parallel advances in high-throughput sequencing and microarray technologies and computing capabilities. The resultant explosion of ‘omics’ data has led to the emergence of the field of systems genomics, the goal of which is the development of innovative statistical methods to analyse these data in an efficient, effective and integrated manner to further understand the aetiology of complex traits and diseases.Complex traits and diseases are generally polygenic in nature, meaning they are influenced by many genetic loci, and the effect of each genetic variant is likely to be small. Most complex traits and diseases are moderately to highly heritable, however the proportion of genetic variance attributable to genome-wide significant variants, identified to date, is relatively low. Elucidating the genetic basis of complex traits and disease remains challenging. Although genome-wide association studies (GWAS) have helped to identify hundreds of susceptible loci for many complex traits and diseases, in most cases the...
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Chronic inflammation is defined by the persistence of inflammatory processes beyond their physiological function, resulting in tissue destruction. Chronic inflammation is implicated in …
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연구목적 최근 서양에서 전장유전체연관분석 (Genome-wide association studies)을 이용한 메타분석을 통해 염증성 장질환 (Inflammatory bowel disease, IBD) 연관 유전자를 200 개 이상 …
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We simultaneously investigated the genetic landscape of ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis and ulcerative colitis to investigate pleiotropy …
14
To examine the association of previously identified autoimmune disease susceptibility loci with granulomatosis with polyangiitis (GPA, formerly known as Wegener’s …
15
To examine the association of previously identified autoimmune disease susceptibility loci with granulomatosis with polyangiitis (Wegener's) (GPA), and to determine whether …
16
PID
De Marco EV, Annesi G, Tarantino P, Nicoletti G, Civitelli D, Messina D, Annesi F, Arabia G, Salsone M, Condino F, Novellino F, Provenzano G, Rocca FE, Colica C, Morelli M, Scornaienchi V, Greco V, Giofrè L, Quattrone A. DJ‐1 is a Parkinson's disease susceptibility gene in southern Italy.
17
To investigate the frequencies of three polymorphisms in DJ-1 (g. 168-185del; SNP405, refSNP ID: rs3766606 and 293 G/A) and their association with sporadic Parkinson's …
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0

No unused studies.