CHROMOSOME 14 GCH1 14q22.2 GENE VIEW GCH1 · 14q22.2 14q21 14q23 rs3783637 — ~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 rs3783637 C / G · GCH1 · 14q22.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G C Cytosine — reference allele G Guanine — variant allele genetics.jdge.cc

rs3783637

Gene: GCH1 — GTP Cyclohydrolase 1 Chr 14:54881400 14q22.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.877778T 0.122222CC 0.772387CT/TC 0.210782TT 0.016831pop=722,710
African C 0.89349T 0.10651CC 0.798364CT/TC 0.190242TT 0.011394pop=58,452
African American C 0.89331T 0.10669CC 0.798107CT/TC 0.190407TT 0.011486pop=56,416
African Others C 0.8983T 0.1017CC 0.805501CT/TC 0.185658TT 0.008841pop=2,036
Asian C 0.64067T 0.35933CC 0.423455CT/TC 0.434431TT 0.142114pop=13,848
East Asian C 0.64526T 0.35474CC 0.428285CT/TC 0.433942TT 0.137774pop=10,960
European C 0.884072T 0.115928CC 0.781688CT/TC 0.204768TT 0.013544pop=588,148
Latin American 1 C 0.89372T 0.10628CC 0.799589CT/TC 0.188259TT 0.012152pop=10,698
Latin American 2 C 0.86547T 0.13453CC 0.751009CT/TC 0.228914TT 0.020076pop=18,828
Other C 0.86074T 0.13926CC 0.744147CT/TC 0.233189TT 0.022663pop=24,092
Other Asian C 0.6233T 0.3767CC 0.405125CT/TC 0.436288TT 0.158587pop=2,888
South Asian C 0.7778T 0.2222CC 0.61453CT/TC 0.326469TT 0.059pop=8,644

Studies6

Unread Studies6
1
Noncoding variants are critical to our understanding of the genetic basis of diseases and disorders such as rheumatoid arthritis (RA). While genome-wide association studies …
2
Obesity is the disease that significantly affects human life as a combination of genetic and physiological environment. The polygenic background of the disease causes of childhood or …
3
Endothelial cell morphology and gene expression are driven by shear stress. Disturbed flow causes constitutive endothelial activation resulting in chronic, non-resolving, and …
4
Dysfunction of vascular endothelium is known to have an essential role in the atherosclerotic process by releasing mediators including nitric oxide (NO). Nitric oxide maintains …
5
The group of tests commonly collected under the name “biomarkers" have been touted for their promise of helping in the diagnosis, treatment, and ultimately prognosis of many …
6
Systemic sclerosis (SSc) is an autoimmune disease for which multiple susceptibility genes have been reported. Genome‐wide association studies have shown that large …
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.

No curated studies yet.

Unused Studies0

No unused studies.