CHROMOSOME 5 PDE4D 5q11.2-q12.1 GENE VIEW PDE4D · 5q11.2-q12.1 5q10 5q12 rs10052657 — ~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 rs10052657 C / A · PDE4D · 5q11.2-q12.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs10052657

Gene: PDE4D — Phosphodiesterase 4D Chr 5:59111944 5q11.2-q12.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.803886A 0.196114CC 0.647527CA/AC 0.312718AA 0.039754pop=729,730
African C 0.86348A 0.13652CC 0.746071CA/AC 0.234808AA 0.019121pop=59,308
African American C 0.86276A 0.13724CC 0.744791CA/AC 0.235946AA 0.019263pop=57,208
African Others C 0.8829A 0.1171CC 0.780952CA/AC 0.20381AA 0.015238pop=2,100
Asian C 0.8206A 0.1794CC 0.675739CA/AC 0.289721AA 0.03454pop=14,476
East Asian C 0.81252A 0.18748CC 0.660512CA/AC 0.304022AA 0.035466pop=10,940
European C 0.797531A 0.202469CC 0.63695CA/AC 0.321162AA 0.041888pop=591,440
Latin American 1 C 0.8108A 0.1892CC 0.658113CA/AC 0.305464AA 0.036424pop=9,664
Latin American 2 C 0.79233A 0.20767CC 0.630261CA/AC 0.324141AA 0.045597pop=16,536
Other C 0.81231A 0.18769CC 0.661624CA/AC 0.301381AA 0.036995pop=30,274
Other Asian C 0.8456A 0.1544CC 0.722851CA/AC 0.245475AA 0.031674pop=3,536
South Asian C 0.7854A 0.2146CC 0.61753CA/AC 0.335657AA 0.046813pop=8,032

Studies1

Unread Studies1
1
PID
Gastric cancer may share genetic predisposition with esophageal squamous cell carcinoma in Chinese populations.
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.