Genetics Genetics Research
CHROMOSOME 1 ACP6 1q21.2 GENE VIEW ACP6 · 1q21.2 1q20 1q22 rs144959805 — ~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 rs144959805 Valine 127 → Leucine C / A · ACP6 · 1q21.2 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

rs144959805

Valine 127 → Leucine Gene: ACP6 — Acid Phosphatase 6, Lysophosphatidic Chr 1:147659496 1q21.2 Missense Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies6

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Total C 0.999238T 0.000762CC 0.998476CT/TC 0.001524TT 0pop=278,192 ↬
African C 0.99976T 0.00024CC 0.999518CT/TC 0.000482TT 0pop=29,064
African American C 0.99975T 0.00025CC 0.999498CT/TC 0.000502TT 0pop=27,886
European C 0.999156T 0.000844CC 0.998312CT/TC 0.001688TT 0pop=219,202
Other C 0.99907T 0.00093CC 0.998141CT/TC 0.001859TT 0pop=18,292
South Asian C 0.9988T 0.0012CC 0.997651CT/TC 0.002349TT 0pop=2,554

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