Genetics Genetics Research
CHROMOSOME 20 SNAP25 20p12.2 GENE VIEW SNAP25 · 20p12.2 20p13 20p11 rs363050 — ~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 rs363050 G / A · SNAP25 · 20p12.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs363050

Gene: SNAP25 — Synaptosome Associated Protein 25 Chr 20:10253609 20p12.2 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.440757A 0.559243GG 0.201634GA/AG 0.478245AA 0.32012pop=101,818 ↬
African G 0.38387A 0.61613GG 0.148581GA/AG 0.470582AA 0.380838pop=17,472
African American G 0.38494A 0.61506GG 0.149641GA/AG 0.470602AA 0.379757pop=16,974
African Others G 0.347A 0.653GG 0.11245GA/AG 0.46988AA 0.417671pop=498
Asian G 0.6972A 0.3028GG 0.500907GA/AG 0.392619AA 0.106473pop=3,306
East Asian G 0.7087A 0.2913GG 0.519231GA/AG 0.379006AA 0.101763pop=2,496
European G 0.42813A 0.57187GG 0.186657GA/AG 0.482951AA 0.330393pop=62,114
Latin American 1 G 0.4044A 0.5956GG 0.164306GA/AG 0.48017AA 0.355524pop=4,236
Latin American 2 G 0.5573A 0.4427GG 0.31512GA/AG 0.484456AA 0.200424pop=8,492
Other G 0.4445A 0.5555GG 0.200301GA/AG 0.488328AA 0.31137pop=5,312
Other Asian G 0.662A 0.338GG 0.444444GA/AG 0.434568AA 0.120988pop=810
South Asian G 0.525A 0.475GG 0.27991GA/AG 0.489842AA 0.230248pop=886

Studies0

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

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Unused Studies0 ▼

No unused studies.