Genetics Genetics Research
CHROMOSOME 22 INTERGENIC GENE VIEW INTERGENIC ?q23 ?q25 rs2413583 — ~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 rs2413583 C / T · INTERGENIC 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

rs2413583

Gene: INTERGENIC — Intergenic / Genome-wide Chr 22:39263768
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.826258T 0.173742CC 0.684914CT/TC 0.282689TT 0.032398pop=775,178 ↬
African C 0.7071T 0.2929CC 0.49911CT/TC 0.415986TT 0.084904pop=66,310
African American C 0.70792T 0.29208CC 0.500234CT/TC 0.415362TT 0.084404pop=64,002
African Others C 0.6846T 0.3154CC 0.467938CT/TC 0.433276TT 0.098787pop=2,308
Asian C 0.94507T 0.05493CC 0.89334CT/TC 0.103461TT 0.0032pop=16,876
East Asian C 0.95135T 0.04865CC 0.905516CT/TC 0.091664TT 0.00282pop=12,764
European C 0.833266T 0.166734CC 0.69467CT/TC 0.277191TT 0.028138pop=617,234
Latin American 1 C 0.82023T 0.17977CC 0.672757CT/TC 0.294943TT 0.0323pop=10,836
Latin American 2 C 0.88754T 0.11246CC 0.789827CT/TC 0.195428TT 0.014744pop=22,924
Other C 0.8355T 0.1645CC 0.703333CT/TC 0.264329TT 0.032338pop=32,346
Other Asian C 0.9256T 0.0744CC 0.855545CT/TC 0.140078TT 0.004377pop=4,112
South Asian C 0.8184T 0.1816CC 0.674757CT/TC 0.287332TT 0.03791pop=8,652

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