Genetics Genetics Research
CHROMOSOME 8 GGH 8q12.3 GENE VIEW GGH · 8q12.3 8q11 8q13 rs1031552 — ~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 rs1031552 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

rs1031552

Gene: GGH — Gamma-Glutamyl Hydrolase Chr 8:63020631 8q12.3 Intron Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total G 0.894582A 0.105418GG 0.802093GA/AG 0.184977AA 0.01293pop=613,148 ↬
African G 0.87952A 0.12048GG 0.774022GA/AG 0.210995AA 0.014983pop=53,660
African American G 0.87996A 0.12004GG 0.77484GA/AG 0.210237AA 0.014923pop=51,732
African Others G 0.8677A 0.1323GG 0.752075GA/AG 0.231328AA 0.016598pop=1,928
Asian G 0.67569A 0.32431GG 0.457967GA/AG 0.435456AA 0.106578pop=11,372
East Asian G 0.6542A 0.3458GG 0.425452GA/AG 0.457433AA 0.117115pop=9,068
European G 0.906526A 0.093474GG 0.821987GA/AG 0.169079AA 0.008934pop=501,906
Latin American 1 G 0.8856A 0.1144GG 0.783215GA/AG 0.204728AA 0.012057pop=8,460
Latin American 2 G 0.7748A 0.2252GG 0.601156GA/AG 0.347283AA 0.051561pop=17,300
Other G 0.86449A 0.13551GG 0.7511GA/AG 0.226778AA 0.022122pop=17,268
Other Asian G 0.7604A 0.2396GG 0.585938GA/AG 0.348958AA 0.065104pop=2,304
South Asian G 0.8853A 0.1147GG 0.786926GA/AG 0.196732AA 0.016342pop=3,182

Studies7

Unread Studies7 ▼
1

Polymorphisms in DNA Repair and One-Carbon Metabolism Genes and Overall Survival in Diffuse Large B-Cell Lymphoma (DLBCL) and Follicular Lymphoma

Study ↗ PDF ↗
Diffuse large B-cell lymphoma (DLBCL) and follicular lymphoma (FL) are the two most commonly diagnosed subtypes of non-Hodgkin lymphoma (NHL) in the United States (1). Both …

2009 · MD Habermann, S Davis

2

An association study of 45 folate‐related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)

Study ↗ PDF ↗
Spina bifida is a class of neural tube defects, which are congenital malformations of the central nervous system with a prevalence of 0.5 to 12 per 1000 births globally. …

2009 · B Franke, SHHM Vermeulen…

3

Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study

Study ↗ PDF ↗
We previously reported a lower risk of non-Hodgkin lymphoma (NHL) associated with high consumption of vitamin B6 and methionine, dietary determinants of one-carbon metabolism. …

2007 · U Lim, SS Wang, P Hartge, W Cozen, LE Kelemen…

4

Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China

Study ↗ PDF ↗
The aim of this study is to investigate the role of genetic polymorphisms in twelve folate metabolism genes on the risk of lung cancer in Xuan Wei, China, where the lung cancer mortality …

2005 · M Shen, N Rothman, SI Berndt, X He, M Yeager…

5

Gene-nutrient interactions among determinants of folate and one-carbon

Study ↗ PDF ↗
We previously reported a lower risk of non-Hodgkin lymphoma (NHL) associated with high consumption of vitamin B6 and methionine, dietary determinants of one-carbon metabolism. …

AB Davis, M Schenk, N Rothman, Q Lan

6

an association study of 45 folate-related genes in spina bifida: involvement of cubilin (CUBN) and trna aspartic acid methyltransferase 1 (TRDMT1)

Study ↗ PDF ↗
Spina bifida is a class of neural tube defects, which are congenital malformations of the central nervous system with a prevalence of 0.5 to 12 per 1000 births globally. In …

SHH Vermeulen, H Scheffer, HJ Blom

7

Candidate-gene association study for one-carbon metabolism-related genes and folate, homocysteine, and methionine concentrations

Study ↗ PDF ↗
One-carbon metabolism involves the transfer of carbon groups and is related to essential physiologic processes. these include formation of purines and thymidine for Dna and rna …

SHH Vermeulen, H Scheffer, HJ Blom

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.