Genetics Genetics Research
CHROMOSOME 14 GCH1 14q22.2 GENE VIEW GCH1 · 14q22.2 14q21 14q23 rs11158026 — ~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 rs11158026 C / A · GCH1 · 14q22.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs11158026

Gene: GCH1 — GTP Cyclohydrolase 1 Chr 14:54882151 14q22.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.642998T 0.357002CC 0.425544CT/TC 0.434908TT 0.139548pop=281,710 ↬
African C 0.34001T 0.65999CC 0.122438CT/TC 0.43515TT 0.442412pop=21,758
African American C 0.34274T 0.65726CC 0.123521CT/TC 0.438429TT 0.43805pop=21,130
African Others C 0.248T 0.752CC 0.085987CT/TC 0.324841TT 0.589172pop=628
Asian C 0.4854T 0.5146CC 0.240481CT/TC 0.489801TT 0.269719pop=8,824
East Asian C 0.4924T 0.5076CC 0.24605CT/TC 0.492664TT 0.261287pop=7,088
European C 0.67872T 0.32128CC 0.462725CT/TC 0.431991TT 0.105284pop=232,514
Latin American 1 C 0.566T 0.434CC 0.312356CT/TC 0.507291TT 0.180353pop=2,606
Latin American 2 C 0.6227T 0.3773CC 0.399474CT/TC 0.446523TT 0.154004pop=6,844
Other C 0.6485T 0.3515CC 0.436255CT/TC 0.424552TT 0.139193pop=8,032
Other Asian C 0.4568T 0.5432CC 0.217742CT/TC 0.478111TT 0.304147pop=1,736
South Asian C 0.6184T 0.3816CC 0.399293CT/TC 0.438163TT 0.162544pop=1,132

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