Genetics Genetics Research
CHROMOSOME 3 TIMMDC1 3q13.33 GENE VIEW TIMMDC1 · 3q13.33 3q12 3q14 rs2293370 — ~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 rs2293370 G / A · TIMMDC1 · 3q13.33 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

rs2293370

Gene: TIMMDC1 — Translocase Of Inner Mitochondrial Membrane Domain Containing 1 Chr 3:119501087 3q13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.81187A 0.18813GG 0.659893GA/AG 0.303953AA 0.036154pop=551,756 ↬
African G 0.79756A 0.20244GG 0.635998GA/AG 0.323116AA 0.040886pop=42,802
African American G 0.79794A 0.20206GG 0.636439GA/AG 0.322999AA 0.040563pop=41,220
African Others G 0.7876A 0.2124GG 0.624526GA/AG 0.326169AA 0.049305pop=1,582
Asian G 0.66924A 0.33076GG 0.451095GA/AG 0.436285AA 0.11262pop=12,964
East Asian G 0.67827A 0.32173GG 0.461812GA/AG 0.432924AA 0.105263pop=10,108
European G 0.814745A 0.185255GG 0.663734GA/AG 0.302021AA 0.034245pop=448,128
Latin American 1 G 0.8339A 0.1661GG 0.696633GA/AG 0.274557AA 0.028809pop=5,762
Latin American 2 G 0.88316A 0.11684GG 0.78068GA/AG 0.204966AA 0.014353pop=13,934
Other G 0.80859A 0.19141GG 0.654579GA/AG 0.308031AA 0.03739pop=19,524
Other Asian G 0.6373A 0.3627GG 0.413165GA/AG 0.448179AA 0.138655pop=2,856
South Asian G 0.8254A 0.1746GG 0.685027GA/AG 0.280722AA 0.034251pop=8,642

Studies3

Unread Studies3 ▼
1

POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.

Study ↗ PDF ↗
PID
POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.

2019 · Hitomi Y, Ueno K, Kawai Y et al.

2

Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records.

Study ↗ PDF ↗
PID
Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records.

2016 · Restrepo NA, Butkiewicz M, McGrath JA et al.

3

Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.

Study ↗ PDF ↗
PID
Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population.

2015 · Dong M, Li J, Tang R 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.