Genetics Genetics Research
CHROMOSOME 17 SLC46A1 17q11.2 GENE VIEW SLC46A1 · 17q11.2 17q10 17q12 rs80338769 — ~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 rs80338769 C / C · SLC46A1 · 17q11.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C C Cytosine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs80338769

Gene: SLC46A1 — Solute Carrier Family 46 Member 1 Chr 17:28405921 17q11.2 Frameshift Variant
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies0

No frequency data stored yet.

Studies0

Unread Studies0 ▼

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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.