Genetics Genetics Research
CHROMOSOME 17 SLC46A1 17q11.2 GENE VIEW SLC46A1 · 17q11.2 17q10 17q12 rs281875211 — ~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 rs281875211 C / G · SLC46A1 · 17q11.2 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G C Cytosine — reference allele G Guanine — variant allele genetics.jdge.cc

rs281875211

Gene: SLC46A1 — Solute Carrier Family 46 Member 1 Chr 17:28402276 17q11.2
NCBI ↗ Research Rabbit ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies5

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Total C 0.99987T 0.00013CC 0.999742CT/TC 0.000258TT 0pop=23,292 ↬
African C 0.9998T 0.0002CC 0.999663CT/TC 0.000337TT 0pop=5,938
African American C 0.9998T 0.0002CC 0.999651CT/TC 0.000349TT 0pop=5,730
European C 0.99993T 0.00007CC 0.99987CT/TC 0.00013TT 0pop=15,332
Latin American 2 C 0.999T 0.001CC 0.997525CT/TC 0.002475TT 0pop=808

Studies1

Unread Studies1 ▼
1

Genetic Association and Prediction Methods for Biobank Data

Study ↗ PDF ↗
PID
With large sample sizes, population-based cohorts and biobanks provide an exciting opportunity to identify genetic components of complex traits. For example, UK Biobank provides genome-wide genotyping data of 500,000 volunteer participants, which is an invaluable resource to detect genetic associations and build prediction models of genetic effects. In the first two projects, we focus on discovery-type questions and develop robust region-based tests of genetic association. In the third project, we target a translation-type question and develop a multi-ethnic prediction method.

2021 · Zhangchen Zhao

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.

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Unused Studies0 ▼

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