Genetics Genetics Research
CHROMOSOME 21 SLC19A1 21q22.3 GENE VIEW SLC19A1 · 21q22.3 21q21 21q23 rs7499 — ~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 rs7499 G / A · SLC19A1 · 21q22.3 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

rs7499

Gene: SLC19A1 — Solute Carrier Family 19 Member 1 Chr 21:45512414 21q22.3 3 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.594222A 0.405778GG 0.355464GA/AG 0.477514AA 0.167021pop=388,202 ↬
African G 0.55672A 0.44328GG 0.315484GA/AG 0.482462AA 0.202054pop=29,992
African American G 0.55679A 0.44321GG 0.315844GA/AG 0.481893AA 0.202263pop=29,160
African Others G 0.554A 0.446GG 0.302885GA/AG 0.502404AA 0.194712pop=832
Asian G 0.4266A 0.5734GG 0.180584GA/AG 0.491979AA 0.327437pop=4,862
East Asian G 0.4096A 0.5904GG 0.160819GA/AG 0.497661AA 0.34152pop=3,420
European G 0.602496A 0.397504GG 0.364374GA/AG 0.476244AA 0.159383pop=311,916
Latin American 1 G 0.5734A 0.4266GG 0.337476GA/AG 0.471764AA 0.190759pop=7,402
Latin American 2 G 0.57648A 0.42352GG 0.334443GA/AG 0.484081AA 0.181476pop=13,820
Other G 0.5827A 0.4173GG 0.341001GA/AG 0.483401AA 0.175599pop=16,868
Other Asian G 0.4667A 0.5333GG 0.227462GA/AG 0.478502AA 0.294036pop=1,442
South Asian G 0.5802A 0.4198GG 0.336924GA/AG 0.486535AA 0.176541pop=3,342

Studies0

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