rs727503094, LRRC56;HRAS

N. diseases: 41
Disease: Juberg-Marsidi syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juberg-Marsidi syndrome
CUI: C0796003
Disease: Juberg-Marsidi syndrome
0.010 GeneticVariation BEFREE In DNA from biopsies, mosaicism for pathogenic variants, including KRAS p.Ala146Thr in two OES subjects, FGFR1 p.Asn546Lys and KRAS p.Ala146Val in ECCL patients, and KRAS p.Gly12Asp in both SFMS patients, was demonstrated. 30891959 2019