Genetics Genetics Research
CHROMOSOME 14 GCH1 14q22.2 GENE VIEW GCH1 · 14q22.2 14q21 14q23 rs8004018 — ~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 rs8004018 A / G · GCH1 · 14q22.2 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

rs8004018

Gene: GCH1 — GTP Cyclohydrolase 1 Chr 14:54883978 14q22.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total A 0.851561G 0.148439AA 0.732367AG/GA 0.238387GG 0.029246pop=608,632 ↬
African A 0.6217G 0.3783AA 0.388387AG/GA 0.466622GG 0.144991pop=53,838
African American A 0.62412G 0.37588AA 0.391281AG/GA 0.465686GG 0.143033pop=51,932
African Others A 0.5556G 0.4444AA 0.309549AG/GA 0.49213GG 0.198321pop=1,906
Asian A 0.6497G 0.3503AA 0.433724AG/GA 0.431947GG 0.134328pop=11,256
East Asian A 0.6565G 0.3435AA 0.440712AG/GA 0.431591GG 0.127697pop=8,990
European A 0.883282G 0.116718AA 0.780388AG/GA 0.205787GG 0.013825pop=496,494
Latin American 1 A 0.8145G 0.1855AA 0.663291AG/GA 0.302321GG 0.034388pop=9,480
Latin American 2 A 0.85066G 0.14934AA 0.726124AG/GA 0.249073GG 0.024803pop=17,256
Other A 0.82059G 0.17941AA 0.681924AG/GA 0.277324GG 0.040752pop=17,128
Other Asian A 0.6227G 0.3773AA 0.406002AG/GA 0.433363GG 0.160635pop=2,266
South Asian A 0.7874G 0.2126AA 0.627044AG/GA 0.320755GG 0.052201pop=3,180

Studies6

Unread Studies6 ▼
1

Whole genome sequencing analysis of over 3500 individuals dementia-free over 85 years old

Study ↗ PDF ↗
Whole genome sequencing analysis of over 3500 individuals dementia-free over 85 years old

2026 · GM Peloso, D Wang, SM Abbruzzese…

2

Polymorphic Variants of BH4 Pathway Genes and Isolated Hypospadias Risk

Study ↗ PDF ↗
Hypospadias (HS) is one of the most common congenital malformations. Complications of corrective surgery in HS correlate with patients’ opinions on their voiding ability …

2020 · HK Konrad, A Mostowska, A Kowal, PP Jagodzinski

3

Genetic Risk Factors for Suicide in Personality Pathology: Analysis of Candidate Gene Associations and Shared Genomic Segments

Study ↗ PDF ↗
Suicide is a serious public health problem. There is compelling evidence that genes account for some of the observed variability in suicidal behavior; despite this, molecular analyses …

2019 · M Puzia

4

Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts

Study ↗ PDF ↗
… We also found a significant correlation between the rs8004018 and rs17128050 variants … global haplotype association was observed for rs17128050 and rs8004018 (p corr = 0.0152). …

2016 · KK Hozyasz, A Mostowska, P Wójcicki, A Lasota…

5

GCH1 in early‐onset Parkinson's disease

Study ↗ PDF ↗
Mutations in GTP‐cyclohydrolase 1 (GCH1) cause autosomal dominant dopa‐responsive dystonia (DRD), characterized by childhood‐onset foot dystonia that later generalizes. DRD …

2009 · SA Cobb, C Wider, OA Ross, IF Mata…

6

Lack of Influence of GTP Cyclohydrolase Gene (GCH1) Variations on Pain Sensitivity in Humans

Study ↗ PDF ↗
To assess the effect of variations in GTP cyclohydrolase gene (GCH1) on pain sensitivity in humans. Methods: Thermal and cold pain sensitivity were evaluated in a cohort of …

2007 · H Kim, RA Dionne

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.