rs753345594, MRPS22

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
OVARIAN DYSGENESIS 7
CUI: C4748263
Disease: OVARIAN DYSGENESIS 7
0.800 GeneticVariation UNIPROT
OVARIAN DYSGENESIS 7
CUI: C4748263
Disease: OVARIAN DYSGENESIS 7
0.800 CausalMutation CLINVAR
Pure Gonadal Dysgenesis, 46, XX
CUI: C0685837
Disease: Pure Gonadal Dysgenesis, 46, XX
0.700 CausalMutation CLINVAR Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
46, XX Gonadal Sex Reversal
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
0.700 CausalMutation CLINVAR Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. 29566152 2018
Ovarian Failure, Premature
CUI: C0085215
Disease: Ovarian Failure, Premature
0.010 GeneticVariation BEFREE Here we report MRPS22 homozygous missense variants c.404G>A (p.R135Q) and c.605G>A (p.R202H) identified in four females from two independent consanguineous families as a novel genetic cause of POI in adolescents. 29566152 2018