Genetics Genetics Research
CHROMOSOME 5 SLC6A3 5p15.33 GENE VIEW SLC6A3 · 5p15.33 5p16 5p14 rs6347 — ~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 rs6347 T / A · SLC6A3 · 5p15.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs6347

Gene: SLC6A3 — Solute Carrier Family 6 Member 3 Chr 5:1411297 5p15.33 Synonymous Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.712635C 0.287365TT 0.515089TC/CT 0.395091CC 0.089819pop=387,622 ↬
African T 0.49718C 0.50282TT 0.244706TC/CT 0.504951CC 0.250343pop=40,800
African American T 0.49936C 0.50064TT 0.247009TC/CT 0.504709CC 0.248282pop=39,286
African Others T 0.4406C 0.5594TT 0.184941TC/CT 0.511229CC 0.303831pop=1,514
Asian T 0.9027C 0.0973TT 0.81546TC/CT 0.174458CC 0.010082pop=6,546
East Asian T 0.9013C 0.0987TT 0.813704TC/CT 0.175185CC 0.011111pop=5,400
European T 0.731238C 0.268762TT 0.535308TC/CT 0.391859CC 0.072833pop=310,438
Latin American 1 T 0.6704C 0.3296TT 0.455614TC/CT 0.429504CC 0.114883pop=3,064
Latin American 2 T 0.8427C 0.1573TT 0.717949TC/CT 0.249573CC 0.032479pop=7,020
Other T 0.73752C 0.26248TT 0.556946TC/CT 0.361146CC 0.081908pop=14,382
Other Asian T 0.9092C 0.0908TT 0.823735TC/CT 0.17103CC 0.005236pop=1,146
South Asian T 0.8299C 0.1701TT 0.69099TC/CT 0.277736CC 0.031273pop=5,372

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