Genetics Genetics Research
CHROMOSOME 7 CFTR 7q31.2 GENE VIEW CFTR · 7q31.2 7q30 7q32 rs1800095 — ~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 rs1800095 Glutamic Acid 528 → Aspartic Acid G / A · CFTR · 7q31.2 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

rs1800095

Glutamic Acid 528 → Aspartic Acid Gene: CFTR — CF Transmembrane Conductance Regulator Chr 7:117559655 7q31.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies10

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Total G 0.980431A 0.019569GG 0.961381GA/AG 0.038099AA 0.000519pop=565,992 ↬
African G 0.99561A 0.00439GG 0.9913GA/AG 0.008616AA 0.000084pop=47,354
African American G 0.99543A 0.00457GG 0.990957GA/AG 0.008955AA 0.000088pop=45,560
Asian G 0.99975A 0.00025GG 0.999495GA/AG 0.000505AA 0pop=15,832
European G 0.977891A 0.022109GG 0.956384GA/AG 0.043014AA 0.000602pop=445,016
Latin American 1 G 0.9775A 0.0225GG 0.955843GA/AG 0.043363AA 0.000793pop=7,564
Latin American 2 G 0.98369A 0.01631GG 0.967386GA/AG 0.032614AA 0pop=12,510
Other G 0.98104A 0.01896GG 0.96256GA/AG 0.036969AA 0.000471pop=33,974
Other Asian G 0.999A 0.001GG 0.997973GA/AG 0.002027AA 0pop=3,946
South Asian G 0.9981A 0.0019GG 0.996259GA/AG 0.003741AA 0pop=3,742

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