Genetics Genetics Research
CHROMOSOME 4 SNCA 4q22.1 GENE VIEW SNCA · 4q22.1 4q21 4q23 rs2736990 — ~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 rs2736990 G / A · SNCA · 4q22.1 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

rs2736990

Gene: SNCA — Synuclein Alpha Chr 4:89757390 4q22.1 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.493158A 0.506842GG 0.252523GA/AG 0.48127AA 0.266207pop=725,052 ↬
African G 0.75914A 0.24086GG 0.576765GA/AG 0.364746AA 0.058489pop=57,344
African American G 0.75667A 0.24333GG 0.572847GA/AG 0.367648AA 0.059505pop=55,390
African Others G 0.8291A 0.1709GG 0.68782GA/AG 0.282497AA 0.029683pop=1,954
Asian G 0.61859A 0.38141GG 0.386237GA/AG 0.464708AA 0.149055pop=14,706
East Asian G 0.61566A 0.38434GG 0.382173GA/AG 0.466979AA 0.150848pop=11,084
European G 0.459283A 0.540717GG 0.212982GA/AG 0.492601AA 0.294417pop=586,998
Latin American 1 G 0.5656A 0.4344GG 0.319486GA/AG 0.492311AA 0.188203pop=8,714
Latin American 2 G 0.54999A 0.45001GG 0.306962GA/AG 0.486047AA 0.206991pop=20,426
Other G 0.52255A 0.47745GG 0.279875GA/AG 0.485348AA 0.234777pop=28,870
Other Asian G 0.6276A 0.3724GG 0.398675GA/AG 0.457758AA 0.143567pop=3,622
South Asian G 0.5115A 0.4885GG 0.273205GA/AG 0.476607AA 0.250188pop=7,994

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