Genetics Genetics Research
CHROMOSOME 16 CLEC16A 16p13.13 GENE VIEW CLEC16A · 16p13.13 16p14 16p12 rs12924729 — ~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 rs12924729 G / A · CLEC16A · 16p13.13 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

rs12924729

Gene: CLEC16A — C-Type Lectin Domain Containing 16A Chr 16:11093926 16p13.13 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.666995A 0.333005GG 0.446763GA/AG 0.440464AA 0.112773pop=354,658 ↬
African G 0.60708A 0.39292GG 0.369282GA/AG 0.475606AA 0.155112pop=36,812
African American G 0.60836A 0.39164GG 0.370785GA/AG 0.475141AA 0.154074pop=35,762
African Others G 0.5638A 0.4362GG 0.318095GA/AG 0.491429AA 0.190476pop=1,050
Asian G 0.7674A 0.2326GG 0.594494GA/AG 0.345777AA 0.059729pop=4,286
East Asian G 0.7825A 0.2175GG 0.612632GA/AG 0.339649AA 0.047719pop=2,850
European G 0.668102A 0.331898GG 0.446533GA/AG 0.443139AA 0.110328pop=261,692
Latin American 1 G 0.6583A 0.3417GG 0.434648GA/AG 0.447324AA 0.118028pop=7,100
Latin American 2 G 0.7919A 0.2081GG 0.627811GA/AG 0.328183AA 0.044006pop=14,498
Other G 0.67073A 0.32927GG 0.451916GA/AG 0.437636AA 0.110448pop=22,128
Other Asian G 0.7375A 0.2625GG 0.558496GA/AG 0.357939AA 0.083565pop=1,436
South Asian G 0.6244A 0.3756GG 0.400884GA/AG 0.447065AA 0.152051pop=8,142

Studies1

Unread Studies1 ▼
1

Investigating the causal relationship and potential shared diagnostic genes between primary biliary cholangitis and systemic lupus erythematosus using bidirectional Mendelian randomization and transcriptomic analyses.

Study ↗ PDF ↗
PID
The co-occurrence of primary biliary cholangitis (PBC) and systemic lupus erythematosus (SLE) has been consistently reported in observational studies. Nevertheless, the underlying causal correlation between these two conditions still needs to be established. We performed a bidirectional two-sample Mendelian randomization (MR) study to assess their causal association. Five MR analysis methods were utilized for causal inference, with inverse-variance weighted (IVW) selected as the primary method.…

2024 · Tao T, Tang A, Lv L 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.

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Unused Studies0 ▼

No unused studies.