CHROMOSOME 11 FOLR3 11q13.4 GENE VIEW FOLR3 · 11q13.4 11q12 11q14 rs61734430 — ~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 rs61734430 Arginine 98 → Cysteine C / T · FOLR3 · 11q13.4 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs61734430

Arginine 98 → Cysteine Gene: FOLR3 — Folate Receptor Gamma Chr 11:72139084 11q13.4 Missense Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.957592T 0.042408CC 0.917004CT/TC 0.081175TT 0.001821pop=410,792
African C 0.98812T 0.01188CC 0.976236CT/TC 0.023764TT 0pop=37,452
African American C 0.9878T 0.0122CC 0.975604CT/TC 0.024396TT 0pop=36,400
African Others C 0.999T 0.001CC 0.998099CT/TC 0.001901TT 0pop=1,052
Asian C 0.99895T 0.00105CC 0.997908CT/TC 0.002092TT 0pop=12,430
East Asian C 0.9997T 0.0003CC 0.999342CT/TC 0.000658TT 0pop=9,116
European C 0.951031T 0.048969CC 0.904234CT/TC 0.093593TT 0.002173pop=316,626
Latin American 1 C 0.9628T 0.0372CC 0.926749CT/TC 0.072016TT 0.001235pop=4,860
Latin American 2 C 0.97101T 0.02899CC 0.942772CT/TC 0.05648TT 0.000748pop=10,694
Other C 0.9655T 0.0345CC 0.932594CT/TC 0.065822TT 0.001584pop=25,250
Other Asian C 0.997T 0.003CC 0.993965CT/TC 0.006035TT 0pop=3,314
South Asian C 0.9724T 0.0276CC 0.946552CT/TC 0.051724TT 0.001724pop=3,480

Studies4

Unread Studies4
1
Genetic variants in genes regulating lens epithelial cell homeostasis in dead bag syndrome: part 2
2
Significant progress has been made in the treatment of patients with pulmonary adenocarcinoma (ADCA) based on molecular profiling. However, no such molecular target …
3
The rapid spread of the coronavirus disease 2019 (COVID-19) is a serious threat to public health systems globally and is subsequently, a cause of anxiety and panic within human …
4
The molecular mechanisms linking folate deficiency and neural tube defect (NTD) risk in offspring remain unclear. Folate transporters (SLC19A1, SLC46A1, SLC25A32, and FOLH1) …
Curated Studies0

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Unused Studies0

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