Genetics Genetics Research
CHROMOSOME 2 ATG16L1 2q37.1 GENE VIEW ATG16L1 · 2q37.1 2q36 2q38 rs3792109 — ~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 rs3792109 G / A · ATG16L1 · 2q37.1 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

rs3792109

Gene: ATG16L1 — Autophagy Related 16 Like 1 Chr 2:233275771 2q37.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.511971A 0.488029GG 0.270887GA/AG 0.482168AA 0.246945pop=586,762 ↬
African G 0.73948A 0.26052GG 0.547707GA/AG 0.383548AA 0.068745pop=49,720
African American G 0.73748A 0.26252GG 0.544944GA/AG 0.38507AA 0.069986pop=48,038
African Others G 0.7967A 0.2033GG 0.626635GA/AG 0.340071AA 0.033294pop=1,682
Asian G 0.68552A 0.31448GG 0.477059GA/AG 0.416915AA 0.106027pop=16,128
East Asian G 0.6911A 0.3089GG 0.483668GA/AG 0.414857AA 0.101476pop=12,062
European G 0.474256A 0.525744GG 0.225009GA/AG 0.498495AA 0.276496pop=469,902
Latin American 1 G 0.5789A 0.4211GG 0.338721GA/AG 0.480399AA 0.18088pop=5,816
Latin American 2 G 0.72857A 0.27143GG 0.537736GA/AG 0.381662AA 0.080602pop=12,084
Other G 0.55408A 0.44592GG 0.323578GA/AG 0.461004AA 0.215419pop=24,464
Other Asian G 0.669A 0.331GG 0.457452GA/AG 0.42302AA 0.119528pop=4,066
South Asian G 0.4628A 0.5372GG 0.220167GA/AG 0.485199AA 0.294635pop=8,648

Studies1

Unread Studies1 ▼
1

Association of ATG16L1 gene haplotype with inflammatory bowel disease in Indians.

Study ↗ PDF ↗
PID
Inflammatory bowel disease (IBD) is characterized by multigenic inheritance. Defects in autophagy related genes are considered to show genetic heterogeneity between populations. We evaluated the association of several single nucleotide polymorphisms (SNPs) in the autophagy related 16 like 1 (ATG16L1) gene with IBD in Indians. The ATG16L1 gene was genotyped for ten different SNPs using DNA extracted from peripheral blood of 234 patients with Crohn's disease (CD), 249 patients with ulcerative coli…

2017 · Pugazhendhi S, Baskaran K, Santhanam S et al.

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.