Genetics Genetics Research
CHROMOSOME 11 BDNF 11p14.1 GENE VIEW BDNF · 11p14.1 11p15 11p13 rs6265 — ~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 rs6265 Valine 66 → Leucine C / A · BDNF · 11p14.1 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

rs6265

Valine 66 → Leucine Gene: BDNF — Brain Derived Neurotrophic Factor Chr 11:27658369 11p14.1 Non Coding Transcript Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.818931T 0.181069CC 0.674139CT/TC 0.289585TT 0.036276pop=814,696 ↬
African C 0.95827T 0.04173CC 0.91845CT/TC 0.079642TT 0.001908pop=72,324
African American C 0.95709T 0.04291CC 0.916161CT/TC 0.081863TT 0.001976pop=69,824
African Others C 0.9912T 0.0088CC 0.9824CT/TC 0.0176TT 0pop=2,500
Asian C 0.55957T 0.44043CC 0.317766CT/TC 0.483612TT 0.198621pop=14,218
East Asian C 0.55055T 0.44945CC 0.302747CT/TC 0.495601TT 0.201652pop=11,138
European C 0.808244T 0.191756CC 0.65351CT/TC 0.309468TT 0.037023pop=652,630
Latin American 1 C 0.85152T 0.14848CC 0.724004CT/TC 0.255023TT 0.020973pop=11,348
Latin American 2 C 0.83977T 0.16023CC 0.702926CT/TC 0.273686TT 0.023388pop=20,096
Other C 0.81383T 0.18617CC 0.666591CT/TC 0.29448TT 0.038929pop=35,398
Other Asian C 0.5922T 0.4078CC 0.372078CT/TC 0.44026TT 0.187662pop=3,080
South Asian C 0.8163T 0.1837CC 0.672195CT/TC 0.288182TT 0.039622pop=8,682

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