Genetics Genetics Research
CHROMOSOME 9 CDKN2A 9p21.3 GENE VIEW CDKN2A · 9p21.3 9p22 9p20 rs55797833 — ~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 rs55797833 T / G · CDKN2A · 9p21.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G T Thymine — reference allele G Guanine — variant allele genetics.jdge.cc

rs55797833

Gene: CDKN2A — Cyclin Dependent Kinase Inhibitor 2A Chr 9:21995045 9p21.3 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.981604G 0.018396TT 0.963619TG/GT 0.03597GG 0.000411pop=296,640 ↬
African T 0.99478G 0.00522TT 0.989657TG/GT 0.010243GG 0.0001pop=19,916
African American T 0.99466G 0.00534TT 0.98943TG/GT 0.010466GG 0.000104pop=19,300
African Others T 0.998G 0.002TT 0.996753TG/GT 0.003247GG 0pop=616
Asian T 0.9996G 0.0004TT 0.999124TG/GT 0.000876GG 0pop=9,136
East Asian T 0.9997G 0.0003TT 0.999461TG/GT 0.000539GG 0pop=7,422
European T 0.979725G 0.020275TT 0.959923TG/GT 0.039604GG 0.000473pop=245,430
Latin American 1 T 0.9792G 0.0208TT 0.958844TG/GT 0.040666GG 0.00049pop=4,082
Latin American 2 T 0.9837G 0.0163TT 0.967408TG/GT 0.032592GG 0pop=8,898
Other T 0.9836G 0.0164TT 0.967405TG/GT 0.032346GG 0.000249pop=8,038
Other Asian T 0.9988G 0.0012TT 0.997666TG/GT 0.002334GG 0pop=1,714
South Asian T 0.9904G 0.0096TT 0.980702TG/GT 0.019298GG 0pop=1,140

Studies0

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