CHROMOSOME 7 DDC 7p12.2-p12.1 GENE VIEW DDC · 7p12.2-p12.1 7p13 7p11 rs12718541 — ~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 rs12718541 A / G · DDC · 7p12.2-p12.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs12718541

Gene: DDC — Dopa Decarboxylase Chr 7:50482446 7p12.2-p12.1
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.431404G 0.568596AA 0.188091AG/GA 0.486627GG 0.325282pop=620,784
African A 0.47574G 0.52426AA 0.227266AG/GA 0.496954GG 0.275779pop=55,820
African American A 0.47529G 0.52471AA 0.226742AG/GA 0.497102GG 0.276155pop=53,832
African Others A 0.4879G 0.5121AA 0.241449AG/GA 0.492958GG 0.265594pop=1,988
Asian A 0.56129G 0.43871AA 0.321695AG/GA 0.479182GG 0.199123pop=13,690
East Asian A 0.56614G 0.43386AA 0.326698AG/GA 0.478884GG 0.194419pop=10,750
European A 0.42329G 0.57671AA 0.180058AG/GA 0.486464GG 0.333478pop=507,314
Latin American 1 A 0.44439G 0.55561AA 0.206818AG/GA 0.475148GG 0.318035pop=10,502
Latin American 2 A 0.37655G 0.62345AA 0.142676AG/GA 0.467746GG 0.389577pop=14,200
Other A 0.45093G 0.54907AA 0.208982AG/GA 0.483904GG 0.307113pop=15,408
Other Asian A 0.5435G 0.4565AA 0.303401AG/GA 0.480272GG 0.216327pop=2,940
South Asian A 0.4847G 0.5153AA 0.236364AG/GA 0.496623GG 0.267013pop=3,850

Studies8

Unread Studies8
1
Research into multi-causative disorders, such as substance dependence, makes it important to understand their neurobiological, genetic, and environmental foundations. The primary …
2
… scores were most significantly associated with rs12718541. The authors suggested that alternative … The presence of the rs12718541 A allele is predicted to disrupt the intronic splicing …
3
Since 1980, there has been a rapid explosion in knowledge regarding the neurobiology of brain substrates of the severe personality disorders. Once conceived solely in traditional …
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Borderline personality disorder (BPD) is comprised of a heterogeneous range of symptoms, including impairment in affect regulation and interpersonal relationships. Dimensional, as …
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… 在对DDC 基因与边缘人格障碍(borderline personality disorder,BPD)关系的研究中发现:BPD 和DDC 基因单核苷酸多 态性rs12718541 之间存在一定的关联性[31].研究表明: rs12718541 和…
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Excessive alcohol consumption contributes to significant morbidity and mortality. Heritable influences contribute to 50% of the variation in alcohol consumption, suggesting …
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… In this study, one marker, rs12718541, was associated with FTND score in both EAs and AAs, and no haplotype studied was more strongly associated than this marker alone. …
8
Nicotine dependence is a major cause of tobacco-related illnesses. Although tobacco smoking continues to be the leading cause of preventable death, and although the harmful health …
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.