Genetics Genetics Research
CHROMOSOME 21 SLC19A1 21q22.3 GENE VIEW SLC19A1 · 21q22.3 21q21 21q23 rs914232 — ~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 rs914232 T / C · SLC19A1 · 21q22.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C T Thymine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs914232

Gene: SLC19A1 — Solute Carrier Family 19 Member 1 Chr 21:45532836 21q22.3 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.434227C 0.565773TT 0.190885TC/CT 0.486683CC 0.322432pop=436,136 ↬
African T 0.58537C 0.41463TT 0.343184TC/CT 0.484376CC 0.17244pop=29,506
African American T 0.58397C 0.41603TT 0.34119TC/CT 0.485556CC 0.173253pop=28,594
African Others T 0.629C 0.371TT 0.405702TC/CT 0.447368CC 0.14693pop=912
Asian T 0.5651C 0.4349TT 0.316623TC/CT 0.496975CC 0.186402pop=6,942
East Asian T 0.5635C 0.4365TT 0.316491TC/CT 0.494035CC 0.189474pop=5,700
European T 0.419432C 0.580568TT 0.176117TC/CT 0.486629CC 0.337254pop=368,494
Latin American 1 T 0.4808C 0.5192TT 0.238016TC/CT 0.485619CC 0.276365pop=4,798
Latin American 2 T 0.4337C 0.5663TT 0.182276TC/CT 0.50292CC 0.314804pop=9,930
Other T 0.44374C 0.55626TT 0.200977TC/CT 0.485528CC 0.313495pop=11,056
Other Asian T 0.5725C 0.4275TT 0.31723TC/CT 0.510467CC 0.172303pop=1,242
South Asian T 0.3898C 0.6102TT 0.158226TC/CT 0.463216CC 0.378558pop=5,410

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