Genetics Genetics Research
CHROMOSOME 5 DHFR 5q14.1 GENE VIEW DHFR · 5q14.1 5q13 5q15 rs1650697 — ~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 rs1650697 A / C · DHFR · 5q14.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs1650697

Gene: DHFR — Dihydrofolate Reductase Chr 5:80654962 5q14.1 Non Coding Transcript Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.239648G 0.760352AA 0.059338AG/GA 0.360621GG 0.580042pop=614,280 ↬
African A 0.09147G 0.90853AA 0.008303AG/GA 0.166334GG 0.825363pop=43,118
African American A 0.09232G 0.90768AA 0.008302AG/GA 0.168042GG 0.823656pop=41,918
African Others A 0.0617G 0.9383AA 0.008333AG/GA 0.106667GG 0.885pop=1,200
Asian A 0.32206G 0.67794AA 0.104546AG/GA 0.43503GG 0.460424pop=16,146
East Asian A 0.31796G 0.68204AA 0.101122AG/GA 0.433685GG 0.465193pop=12,124
European A 0.249781G 0.750219AA 0.062201AG/GA 0.37516GG 0.562639pop=496,130
Latin American 1 A 0.1915G 0.8085AA 0.037638AG/GA 0.307692GG 0.654669pop=8,502
Latin American 2 A 0.2323G 0.7677AA 0.052998AG/GA 0.358597GG 0.588405pop=18,076
Other A 0.25119G 0.74881AA 0.066447AG/GA 0.369486GG 0.564067pop=28,564
Other Asian A 0.3344G 0.6656AA 0.114868AG/GA 0.439085GG 0.446047pop=4,022
South Asian A 0.3048G 0.6952AA 0.098291AG/GA 0.412927GG 0.488782pop=3,744

Studies0

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