CHROMOSOME 20 SNAP25 20p12.2 GENE VIEW SNAP25 · 20p12.2 20p13 20p11 rs363043 — ~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 rs363043 C / T · SNAP25 · 20p12.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs363043

Gene: SNAP25 — Synaptosome Associated Protein 25 Chr 20:10245498 20p12.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.698008T 0.301992CC 0.489569CT/TC 0.416878TT 0.093553pop=293,266
African C 0.64901T 0.35099CC 0.41782CT/TC 0.462371TT 0.119809pop=21,818
African American C 0.65052T 0.34948CC 0.420006CT/TC 0.461021TT 0.118973pop=21,114
African Others C 0.604T 0.396CC 0.352273CT/TC 0.502841TT 0.144886pop=704
Asian C 0.97T 0.03CC 0.940299CT/TC 0.059701TT 0pop=938
East Asian C 0.988T 0.012CC 0.97654CT/TC 0.02346TT 0pop=682
European C 0.697761T 0.302239CC 0.488763CT/TC 0.417997TT 0.093241pop=238,222
Latin American 1 C 0.6741T 0.3259CC 0.462052CT/TC 0.424104TT 0.113844pop=5,692
Latin American 2 C 0.74535T 0.25465CC 0.557566CT/TC 0.37556TT 0.066873pop=11,604
Other C 0.7086T 0.2914CC 0.507559CT/TC 0.402137TT 0.090304pop=9,922
Other Asian C 0.922T 0.078CC 0.84375CT/TC 0.15625TT 0pop=256
South Asian C 0.7679T 0.2321CC 0.592899CT/TC 0.349901TT 0.057199pop=5,070

Studies14

Unread Studies14
1
Borderline intellectual functioning (BIF) is defined as a neurodevelopmental condition characterised by an intelligence quotient between 71 and 85, along with difficulties in adaptive …
2
Regulation of protein expression plays an important role in healthy human physiology as well as disease. Several mechanisms are involved. This research focuses on miRNA (micro …
3
… Blasi et al. showed that the rs363043 C> T SNPs of the synaptosomalassociated protein 25 (SNAP25) gene in children with borderline intellectual disability had reduced perceptual …
4
The inheritance of attention-deficit hyperactivity disorder (ADHD) is more common in children and adults and therefore more research in the field of genetics was carried out. The …
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… Blasi et al. showed that the rs363043 C>T SNPs of the synaptosomal-associated protein 25 (SNAP25) gene in children with borderline intellectual disability had reduced perceptual …
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MicroRNAs (miRNAs) are important regulators of gene expression in humans and many other organisms. Genetic variation in target sites potentially alters this regulation. Better …
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… Moreover, it has been demonstrated that several SNAP25 polymorphisms (rs363050, rs3746544, rs363043) are associated with autism and attention deficit hyperactivity disorder (…
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Spatially and temporally controlled release of neurotransmitters, hormones, and neuropeptides is crucial for proper regulation of physiological processes. On the molecular level, …
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… The rs363050 (A) and rs363043 (T) alleles, as well as the rs363050/rs363043 AT haplotype are significantly more evident in AD patients which correlates with decreased brain activity …
10
A familial disorder that causes psychosis is described. Associated with the disorder are distinct patterns of physical symptoms and conditions that may be used to assist diagnosis. The …
11
We propose here a methodology to uncover modularities in the network of SNP–SNP interactions most associated with disease. We start by computing all possible Boolean binary SNP …
12
… Three of these SNPS (rs363012, rs363043 and rs362547) are mapped to intron 1 of the gene. Interestingly, rs363043 and rs362547 (associated with total ADHD symptoms and with …
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The aims of the present study were to examine the association between a common serotonin transporter gene (SLC6A4) polymorphism 5-HTTLPR/rs25531 with …
14
SNAP25 occurs on chromosome 20p12.2, which has been linked to schizophrenia in some samples, and recently linked to latent classes of psychotic illness in our sample. SNAP25 is …
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.