Genetics Genetics Research
CHROMOSOME 4 CNGA1 4p12 GENE VIEW CNGA1 · 4p12 4p13 4p11 rs76537883 — ~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 rs76537883 Arginine 28 → Glutamine C / T · CNGA1 · 4p12 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

rs76537883

Arginine 28 → Glutamine Gene: CNGA1 — Cyclic Nucleotide Gated Channel Subunit Alpha 1 Chr 4:47952607 4p12 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies11

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Total C 0.982837T 0.017163CC 0.966076CT/TC 0.033522TT 0.000402pop=536,968 ↬
African C 0.99528T 0.00472CC 0.990647CT/TC 0.009269TT 0.000084pop=47,900
African American C 0.9951T 0.0049CC 0.990285CT/TC 0.009629TT 0.000087pop=46,112
Asian C 0.99942T 0.00058CC 0.998834CT/TC 0.001166TT 0pop=15,444
East Asian C 0.99974T 0.00026CC 0.999483CT/TC 0.000517TT 0pop=11,606
European C 0.980152T 0.019848CC 0.96078CT/TC 0.038744TT 0.000476pop=424,170
Latin American 1 C 0.9944T 0.0056CC 0.989073CT/TC 0.010647TT 0.00028pop=7,138
Latin American 2 C 0.9935T 0.0065CC 0.987063CT/TC 0.012937TT 0pop=8,348
Other C 0.98577T 0.01423CC 0.971737CT/TC 0.028065TT 0.000198pop=30,358
Other Asian C 0.9984T 0.0016CC 0.996873CT/TC 0.003127TT 0pop=3,838
South Asian C 0.99T 0.01CC 0.980609CT/TC 0.018837TT 0.000554pop=3,610

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