Genetics Genetics Research
CHROMOSOME 12 GRIN2B 12p13.1 GENE VIEW GRIN2B · 12p13.1 12p14 12p12 rs1019385 — ~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 rs1019385 C / A · GRIN2B · 12p13.1 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1019385

Gene: GRIN2B — Glutamate Ionotropic Receptor NMDA Type Subunit 2B Chr 12:13981909 12p13.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.578224A 0.421776CC 0.35134CA/AC 0.453769AA 0.194891pop=229,954 ↬
African C 0.88301A 0.11699CC 0.780443CA/AC 0.205141AA 0.014416pop=31,354
African American C 0.8801A 0.1199CC 0.775017CA/AC 0.210166AA 0.014817pop=30,100
African Others C 0.953A 0.047CC 0.910686CA/AC 0.08453AA 0.004785pop=1,254
Asian C 0.4426A 0.5574CC 0.202848CA/AC 0.47943AA 0.317722pop=6,320
East Asian C 0.443A 0.557CC 0.205657CA/AC 0.474771AA 0.319572pop=5,232
European C 0.538967A 0.461033CC 0.291149CA/AC 0.495636AA 0.213215pop=180,100
Latin American 1 C 0.5908A 0.4092CC 0.34728CA/AC 0.487029AA 0.16569pop=2,390
Latin American 2 C 0.3358A 0.6642CC 0.116271CA/AC 0.439024AA 0.444704pop=5,986
Other C 0.5311A 0.4689CC 0.294508CA/AC 0.473144AA 0.232348pop=3,314
Other Asian C 0.4403A 0.5597CC 0.189338CA/AC 0.501838AA 0.308824pop=1,088
South Asian C 0.473A 0.527CC 0.208163CA/AC 0.530612AA 0.261224pop=490

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