Genetics Genetics Research
CHROMOSOME 8 CASC8 8q24.21 GENE VIEW CASC8 · 8q24.21 8q23 8q25 rs10505477 — ~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 rs10505477 A / C · CASC8 · 8q24.21 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

rs10505477

Gene: CASC8 — Cancer Susceptibility 8 Chr 8:127395198 8q24.21 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.528408G 0.471592AA 0.289191AG/GA 0.478435GG 0.232374pop=756,366 ↬
African A 0.8199G 0.1801AA 0.6732AG/GA 0.293395GG 0.033405pop=60,710
African American A 0.81754G 0.18246AA 0.669294AG/GA 0.296482GG 0.034224pop=58,614
African Others A 0.886G 0.114AA 0.782443AG/GA 0.207061GG 0.010496pop=2,096
Asian A 0.38355G 0.61645AA 0.151802AG/GA 0.463494GG 0.384704pop=17,312
East Asian A 0.39168G 0.60832AA 0.156947AG/GA 0.469457GG 0.373596pop=12,998
European A 0.501747G 0.498253AA 0.253515AG/GA 0.496464GG 0.250021pop=607,198
Latin American 1 A 0.6055G 0.3945AA 0.360089AG/GA 0.490847GG 0.149065pop=9,942
Latin American 2 A 0.57639G 0.42361AA 0.333817AG/GA 0.485156GG 0.181027pop=23,444
Other A 0.5161G 0.4839AA 0.273534AG/GA 0.485136GG 0.241329pop=29,064
Other Asian A 0.3591G 0.6409AA 0.1363AG/GA 0.445526GG 0.418173pop=4,314
South Asian A 0.467G 0.533AA 0.223781AG/GA 0.486431GG 0.289788pop=8,696

Studies0

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