MRPS22, mitochondrial ribosomal protein S22, 56945

N. diseases: 78; N. variants: 15
Disease: Pure Gonadal Dysgenesis, 46, XX ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753345594
rs753345594
Entrez Id: 56945
Gene Symbol: MRPS22
MRPS22
CUI: C0685837
Disease:
Pure Gonadal Dysgenesis, 46, XX 		A 0.700 CausalMutation CLINVAR Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018