Genetics Genetics Research
CHROMOSOME 12 GRIN2B 12p13.1 GENE VIEW GRIN2B · 12p13.1 12p14 12p12 rs6488619 — ~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 rs6488619 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

rs6488619

Gene: GRIN2B — Glutamate Ionotropic Receptor NMDA Type Subunit 2B Chr 12:13774962 12p13.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.196296T 0.803704CC 0.041891CT/TC 0.308811TT 0.649298pop=530,234 ↬
African C 0.08757T 0.91243CC 0.009024CT/TC 0.157084TT 0.833892pop=48,318
African American C 0.08824T 0.91176CC 0.009232CT/TC 0.158015TT 0.832754pop=46,578
African Others C 0.0695T 0.9305CC 0.003448CT/TC 0.132184TT 0.864368pop=1,740
Asian C 0.16349T 0.83651CC 0.030527CT/TC 0.265932TT 0.703541pop=12,710
East Asian C 0.15305T 0.84695CC 0.0269CT/TC 0.252307TT 0.720793pop=10,186
European C 0.214007T 0.785993CC 0.047386CT/TC 0.333242TT 0.619372pop=422,318
Latin American 1 C 0.1611T 0.8389CC 0.027373CT/TC 0.267444TT 0.705183pop=8,914
Latin American 2 C 0.11487T 0.88513CC 0.01685CT/TC 0.196035TT 0.787115pop=18,160
Other C 0.1925T 0.8075CC 0.041115CT/TC 0.302777TT 0.656108pop=18,436
Other Asian C 0.2056T 0.7944CC 0.045166CT/TC 0.320919TT 0.633914pop=2,524
South Asian C 0.2351T 0.7649CC 0.049347CT/TC 0.371553TT 0.5791pop=1,378

Studies2

Unread Studies2 ▼
1

Frailty Index associates with GRIN2B in two representative samples from the United States and the United Kingdom

Study ↗ PDF ↗
… A third variant, rs6488619, has been associated with follicle-stimulating hormone (FSH) levels in … Of these SNPs, rs4764043 and rs6488619 were included in our GWAS, but neither …

2018 · K Mekli, A Stevens, AD Marshall, TE Arpawong…

2

Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women

Study ↗ PDF ↗
… As summarized in Table II, the two most significant SNPs in the Caucasian women, rs6488619 and … Variant rs6488619, is located within an intron of the glutamate receptor, ionotropic, N-…

2012 · SM Schuh-Huerta, NA Johnson, MP Rosen…

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.