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rs80338794(T;T)

From SNPedia

Salla disease
Is agenotype
ofrs80338794
GeneSLC17A5
Chromosome6
Position73,644,583
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Finnish major Salla disease mutation carrier
(T;T) 5 Salla disease

This genotype results in Salla disease, as a homozygous carrier of the Salla disease mutation most prevalent in Finland.