Genetics Genetics Research
CHROMOSOME 8 GGH 8q12.3 GENE VIEW GGH · 8q12.3 8q11 8q13 rs11545078 — ~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 rs11545078 Threonine 151 → Isoleucine G / A · GGH · 8q12.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs11545078

Threonine 151 → Isoleucine Gene: GGH — Gamma-Glutamyl Hydrolase Chr 8:63026205 8q12.3 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.909623A 0.090377GG 0.827968GA/AG 0.16331AA 0.008722pop=682,652 ↬
African G 0.94603A 0.05397GG 0.895562GA/AG 0.100934AA 0.003504pop=59,940
African American G 0.94603A 0.05397GG 0.895632GA/AG 0.1008AA 0.003568pop=57,738
African Others G 0.946A 0.054GG 0.893733GA/AG 0.10445AA 0.001817pop=2,202
Asian G 0.92711A 0.07289GG 0.859692GA/AG 0.134846AA 0.005462pop=16,478
East Asian G 0.9306A 0.0694GG 0.865413GA/AG 0.130371AA 0.004216pop=12,334
European G 0.903703A 0.096297GG 0.816891GA/AG 0.173623AA 0.009486pop=539,964
Latin American 1 G 0.926A 0.074GG 0.857287GA/AG 0.137465AA 0.005248pop=9,908
Latin American 2 G 0.96072A 0.03928GG 0.922742GA/AG 0.075964AA 0.001294pop=17,008
Other G 0.90948A 0.09052GG 0.828084GA/AG 0.162788AA 0.009128pop=35,494
Other Asian G 0.9167A 0.0833GG 0.842664GA/AG 0.148166AA 0.00917pop=4,144
South Asian G 0.8319A 0.1681GG 0.698446GA/AG 0.266839AA 0.034715pop=3,860

Studies0

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