Genetics Genetics Research
CHROMOSOME 1 IL23R 1p31.3 GENE VIEW IL23R · 1p31.3 1p32 1p30 rs9988642 — ~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 rs9988642 T / C · IL23R · 1p31.3 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C T Thymine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs9988642

Gene: IL23R — Interleukin 23 Receptor Chr 1:67260421 1p31.3 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies11

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Total T 0.903191C 0.096809TT 0.821361TC/CT 0.16366CC 0.014979pop=321,374 ↬
African T 0.723C 0.277TT 0.523867TC/CT 0.398263CC 0.07787pop=43,072
African American T 0.72423C 0.27577TT 0.525184TC/CT 0.398082CC 0.076734pop=41,494
African Others T 0.6907C 0.3093TT 0.489227TC/CT 0.403042CC 0.107731pop=1,578
Asian T 0.9999C 0.0001TT 0.999707TC/CT 0.000293CC 0pop=6,816
European T 0.930882C 0.069118TT 0.866523TC/CT 0.128717CC 0.004759pop=243,728
Latin American 1 T 0.8574C 0.1426TT 0.740897TC/CT 0.233039CC 0.026064pop=5,218
Latin American 2 T 0.94723C 0.05277TT 0.896572TC/CT 0.101322CC 0.002107pop=10,442
Other T 0.91124C 0.08876TT 0.834808TC/CT 0.152872CC 0.01232pop=11,526
Other Asian T 0.9991C 0.0009TT 0.998279TC/CT 0.001721CC 0pop=1,162
South Asian T 0.972C 0.028TT 0.944056TC/CT 0.055944CC 0pop=572

Studies0

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