Genetics Genetics Research
CHROMOSOME 12 GRIN2B 12p13.1 GENE VIEW GRIN2B · 12p13.1 12p14 12p12 rs1805502 — ~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 rs1805502 A / G · GRIN2B · 12p13.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs1805502

Gene: GRIN2B — Glutamate Ionotropic Receptor NMDA Type Subunit 2B Chr 12:13561247 12p13.1 3 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.796612G 0.203388AA 0.640194AG/GA 0.312831GG 0.046975pop=686,672 ↬
African A 0.57665G 0.42335AA 0.335614AG/GA 0.48197GG 0.182416pop=60,518
African American A 0.5781G 0.4219AA 0.337155AG/GA 0.481792GG 0.181053pop=58,443
African Others A 0.5359G 0.4641AA 0.292189AG/GA 0.486982GG 0.220829pop=2,075
Asian A 0.79544G 0.20456AA 0.637139AG/GA 0.316607GG 0.046254pop=11,718
East Asian A 0.7876G 0.2124AA 0.62417AG/GA 0.326762GG 0.049068pop=9,334
European A 0.819748G 0.180252AA 0.672442AG/GA 0.294612GG 0.032946pop=561,592
Latin American 1 A 0.7732G 0.2268AA 0.596917AG/GA 0.352518GG 0.050565pop=9,730
Latin American 2 A 0.83982G 0.16018AA 0.705853AG/GA 0.26794GG 0.026207pop=16,026
Other A 0.80153G 0.19847AA 0.645433AG/GA 0.312204GG 0.042363pop=19,026
Other Asian A 0.8263G 0.1737AA 0.687919AG/GA 0.276846GG 0.035235pop=2,384
South Asian A 0.7685G 0.2315AA 0.593649AG/GA 0.349789GG 0.056562pop=8,062

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