Genetics Genetics Research
CHROMOSOME 5 SLC6A3 5p15.33 GENE VIEW SLC6A3 · 5p15.33 5p16 5p14 rs27072 — ~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 rs27072 C / A · SLC6A3 · 5p15.33 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

rs27072

Gene: SLC6A3 — Solute Carrier Family 6 Member 3 Chr 5:1394407 5p15.33 3 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total C 0.826392T 0.173608CC 0.684198CT/TC 0.284386TT 0.031416pop=562,779 ↬
African C 0.86699T 0.13301CC 0.752362CT/TC 0.229217TT 0.01842pop=50,171
African American C 0.8666T 0.1334CC 0.751734CT/TC 0.22969TT 0.018577pop=48,457
African Others C 0.8781T 0.1219CC 0.770128CT/TC 0.215869TT 0.014002pop=1,714
Asian C 0.7496T 0.2504CC 0.569304CT/TC 0.360635TT 0.07006pop=7,936
East Asian C 0.7595T 0.2405CC 0.582521CT/TC 0.353977TT 0.063502pop=6,362
European C 0.82642T 0.17358CC 0.683553CT/TC 0.285739TT 0.030708pop=457,144
Latin American 1 C 0.8339T 0.1661CC 0.697549CT/TC 0.272794TT 0.029657pop=8,160
Latin American 2 C 0.78016T 0.21984CC 0.611696CT/TC 0.336924TT 0.051379pop=16,894
Other C 0.817T 0.183CC 0.668971CT/TC 0.296055TT 0.034974pop=14,754
Other Asian C 0.7097T 0.2903CC 0.515883CT/TC 0.387548TT 0.096569pop=1,574
South Asian C 0.7509T 0.2491CC 0.571244CT/TC 0.359326TT 0.06943pop=7,720

Studies0

Unread Studies0 ▼

No new studies.

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.