Genetics Genetics Research
CHROMOSOME 11 FOLR1 11q13.4 GENE VIEW FOLR1 · 11q13.4 11q12 11q14 rs144637717 — ~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 rs144637717 T / C · FOLR1 · 11q13.4 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

rs144637717

Gene: FOLR1 — Folate Receptor Alpha Chr 11:72195749 11q13.4 Splice Donor Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies11

Sort by
Total T 0.997911C 0.002089TT 0.995822TC/CT 0.004178CC 0pop=362,350 ↬
African T 0.99922C 0.00078TT 0.998436TC/CT 0.001564CC 0pop=43,468
African American T 0.99919C 0.00081TT 0.998373TC/CT 0.001627CC 0pop=41,798
Asian T 0.9998C 0.0002TT 0.999585TC/CT 0.000415CC 0pop=9,650
East Asian T 0.9999C 0.0001TT 0.999743TC/CT 0.000257CC 0pop=7,774
European T 0.997689C 0.002311TT 0.995379TC/CT 0.004621CC 0pop=280,874
Latin American 1 T 0.9985C 0.0015TT 0.996915TC/CT 0.003085CC 0pop=3,890
Latin American 2 T 0.998C 0.002TT 0.995999TC/CT 0.004001CC 0pop=7,498
Other T 0.99772C 0.00228TT 0.995433TC/CT 0.004567CC 0pop=15,766
Other Asian T 0.9995C 0.0005TT 0.998934TC/CT 0.001066CC 0pop=1,876
South Asian T 0.9875C 0.0125TT 0.975083TC/CT 0.024917CC 0pop=1,204

Studies1

Unread Studies1 ▼
1

Rare variants and biological pathways identified in treatment‐refractory depression

Study ↗ PDF ↗
… SNP rs144637717 is predicted to abolish a splice site, so we expected to observe a larger RNA fragment in the heterozygotes, as an intron should be retained in the resultant mRNA. …

2020 · LL McClain, P Shaw, R Sabol…

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.