Genetics Genetics Research
CHROMOSOME 1 ADAMTSL4 1q21.2 GENE VIEW ADAMTSL4 · 1q21.2 1q20 1q22 rs41317525 — ~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 rs41317525 G / A · ADAMTSL4 · 1q21.2 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

rs41317525

Gene: ADAMTSL4 — ADAMTS Like 4 Chr 1:150557567 1q21.2 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies10

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Total G 0.987899A 0.012101GG 0.975945GA/AG 0.023907AA 0.000148pop=256,830 ↬
African G 0.99777A 0.00223GG 0.99555GA/AG 0.00445AA 0pop=19,324
African American G 0.99769A 0.00231GG 0.995387GA/AG 0.004613AA 0pop=18,642
Asian G 0.9998A 0.0002GG 0.999664GA/AG 0.000336AA 0pop=5,948
European G 0.986588A 0.013412GG 0.973352GA/AG 0.026472AA 0.000176pop=215,548
Latin American 1 G 0.991A 0.009GG 0.982183GA/AG 0.017817AA 0pop=898
Latin American 2 G 0.9927A 0.0073GG 0.985423GA/AG 0.014577AA 0pop=3,430
Other G 0.98785A 0.01215GG 0.975696GA/AG 0.024304AA 0pop=11,274
Other Asian G 0.999A 0.001GG 0.998012GA/AG 0.001988AA 0pop=1,006
South Asian G 0.993A 0.007GG 0.985294GA/AG 0.014706AA 0pop=408

Studies0

Unread Studies0 ▼

No new studies.

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.