rs1324026337, TGM2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Precocious pubarche
CUI: C0342541
Disease: Precocious pubarche
0.010 GeneticVariation BEFREE The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation. 12050213 2002
Transposition of Great Vessels
CUI: C0040761
Disease: Transposition of Great Vessels
0.010 GeneticVariation BEFREE The first is a nonstop mutation in the normal stop codon 373 of the gene in exon IV [TGA (Stop) --> TGC (Cys) = Stop373C) identified from one allele of a female child with premature pubarche whose second allele had an E142K mutation. 12050213 2002