rs201988564, FBN2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
3 beta-Hydroxysteroid dehydrogenase deficiency
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
0.010 GeneticVariation BEFREE A missense P222T mutation was seriously detrimental, causing the classic phenotype of 3beta-HSD deficiency. 12050213 2002
Congenital contractural arachnodactyly
CUI: C0220668
Disease: Congenital contractural arachnodactyly
0.010 GeneticVariation BEFREE The second is a homozygous missense mutation in codon 222 [CCA (Pro) --> ACT (Thr) = P222T] in the gene identified from a female neonate with salt-wasting disorder. 12050213 2002